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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation G20210A

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 53 clinical trials

Clinical Trials


1 Epidemiology of Venous Thromboembolism

To evaluate potentially modifiable lifestyle predictors of venous thromboembolism and their joint associations with biochemical and genetic determinants.

NCT00041457
Conditions
  1. Cardiovascular Diseases
  2. Thromboembolism
  3. Peripheral Vascular Diseases
MeSH:Cardiovascular Diseases Thromboembolism Vascular Diseases Peripheral Vascular Diseases Peripheral Arterial Disease
HPO:Abnormality of the cardiovascular system Peripheral arterial stenosis Thromboembolism

Archived blood samples were collected from approximately 75 percent of participants at baseline and will be used to assess biochemical and genetic markers of risk including factor V Leiden, the G20210A mutation in the prothrombin gene, hyperhomocysteinemia, and anticardiolipin antibodies. --- G20210A ---


2 Hormone Replacement Therapy and Prothrombotic Variants

To examine in postmenopausal women the potential interactions of hormone replacement therapy with other blood clotting factors on the risk of cardiovascular diseases such as heart attack or stroke.

NCT00049933
Conditions
  1. Cardiovascular Diseases
  2. Heart Diseases
  3. Cerebrovascular Accident
  4. Myocardial Infarction
  5. Hypertension
MeSH:Stroke Cardiovascular Diseases Heart Diseases Myocardial Infarction Infarction
HPO:Abnormality of the cardiovascular system Myocardial infarction Stroke

In an American Heart Association funded case-control study, a potential interaction was observed between HRT and the prothrombin G20210A variant on the risk of first myocardial infarction (MI) in post-menopausal women with hypertension. --- G20210A ---

Primary Outcomes

Measure: Myocardial Infarction or Stroke

Time: Retrospective

3 A Study to Assess the Incidence of Deep Vein Thrombosis (DVT) Following Prophylactic Intravenous Administration of Recombinant Human Antithrombin(rhAT) to Hereditary Antithrombin (AT) Deficient Patients in High Risk Situations.

Patients with hereditary antithrombin (AT) deficiency are at increased risk of venous thrombosis and pulmonary embolism, particularly during certain high risk procedures. The trial is focusing on patients with confirmed hereditary antithrombin deficiency who are undergoing a surgical procedure or induced/spontaneous labor and delivery. The study will test the safety and efficacy of recombinant human antithrombin (rhAT) by infusing rhAT prior to, during and following the period of risk or surgical procedure.

NCT00056550
Conditions
  1. Antithrombin Deficiency, Congenital
Interventions
  1. Biological: Recombinant Human Antithrombin (rhAT)
MeSH:Thrombosis Venous Thrombosis Antithrombin III Deficiency
HPO:Deep venous thrombosis Reduced antithrombin III activity Venous thrombosis

Exclusion Criteria: - Patients who have a diagnosis of hereditary APC resistance, Factor V Leiden, Protein S or C deficiency, prothrombin gene mutation (G20210A), or acquired (lupus anticoagulant) thrombophilic disorder. --- G20210A ---

Primary Outcomes

Description: Observation for clinical signs and symptoms of thromboembolic events are evaluated for acute deep vein thrombosis (DVT) using duplex ultrasonography and/or other imaging tests to confirm clinical signs/symptoms. Duplex ultrasonography was performed at baseline, last day of dosing and day 7 (+ or -1 day).

Measure: Incidence of Thromboembolic Events Acute Deep Venous Thrombosis (DVT) and/or Thromboembolic Events Other Than Acute Deep Vein Thrombosis (DVT).

Time: Baseline, last day of dosing and day 7 (+ or - 1 day)

Secondary Outcomes

Description: The investigators evaluated patients for any clinical signs of thromboembolism by physical examination.

Measure: Local Assessment of Thromboembolism by Physical Examination.

Time: 30 days after last dose

4 A Phase I Study of Bevacizumab in Refractory Solid Tumors

This phase I trial is studying the side effects and best dose of bevacizumab in treating young patients with refractory solid tumors. Monoclonal antibodies, such as bevacizumab, can locate tumor cells and either kill them or deliver tumor-killing substances to them without harming normal cells.

NCT00085111
Conditions
  1. Unspecified Childhood Solid Tumor, Protocol Specific
Interventions
  1. Biological: bevacizumab
MeSH:Neoplasms
HPO:Neoplasm

Inclusion Criteria: - Histologically confirmed solid tumor at original diagnosis - Measurable or evaluable* disease - No known curative therapy exists - No lymphomas or primary CNS tumors - No history or clinical evidence of CNS metastasis by head CT scan - Performance status - Karnofsky 50-100% (patients > 10 years of age) - Performance status - Lansky 50-100% (patients ≤ 10 years of age) - At least 8 weeks - Patients without bone marrow involvement: - Absolute neutrophil count ≥ 1,000/mm^3 - Platelet count ≥ 100,000/mm^3 (transfusion independent) - Hemoglobin ≥ 8.0 g/dL (RBC transfusion allowed) - Patients with bone marrow metastases: - Platelet count ≥ 75,000/mm^3 (transfusion independent) - Granulocytopenia, anemia, and/or mild thrombocytopenia allowed - No known bleeding diathesis or coagulopathy - No known thrombophilic condition (e.g., protein S, protein C, or antithrombin III deficiency, Factor V Leiden, Factor II G20210A mutation, homocystinemia, or antiphospholipid antibody syndrome) - PT or PTT ≤ 1.2 times upper limit of normal (ULN) - ALT ≤ 5 times ULN - Bilirubin ≤ 1.5 times ULN - Albumin ≥ 2 g/dL - Creatinine clearance or radioisotope glomerular filtrationrate ≥ 70 mL/min - Creatinine based on age as follows: - Creatinine ≤ 0.8 mg/dL (patients ≤ 5 years of age) - Creatinine ≤ 1.0 mg/dL (patients 6 to 10 years of age) - Creatinine ≤ 1.2 mg/dL (patients 11 to 15 years of age) - Creatinine ≤ 1.5 mg/dL (patients > 15 years of age) - No proteinuria - 24-hour urine protein ≤ 500 mg - No history of stroke - No deep venous or arterial thrombosis within the past 3 months - No uncontrolled hypertension - Hypertension must be well-controlled with stable doses of medication for at least 2 weeks - No history of myocardial infarction - No severe or unstable angina - No transient ischemic attack within the past 6 months - No cerebrovascular accident within the past 6 months - No other arterial thromboembolic event within the past 6 months - No clinically significant or severe peripheral vascular disease - No pulmonary embolism within the past 3 months - Not pregnant or nursing - Negative pregnancy test - Fertile patients must use effective contraception during and for at least 3 months after study participation - No chronic non-healing wound, ulcer, or bone fracture - No significant traumatic injury within the past 28 days - No uncontrolled seizures - No uncontrolled infection - No known hypersensitivity to Chinese hamster ovary cell products or other recombinant human antibodies - Recovered from prior immunotherapy - More than 1 week since prior growth factors - At least 2 months since prior stem cell transplantation - No evidence of active graft-vs-host disease - At least 8 weeks since prior monoclonal antibody therapy - At least 7 days since prior antineoplastic biologic agents - No prior bevacizumab - No concurrent prophylactic growth factors - No other concurrent immunotherapy or biologic therapy - More than 3 weeks since prior myelosuppressive chemotherapy (6 weeks for nitrosoureas) and recovered - No concurrent chemotherapy - Recovered from prior radiotherapy - At least 4 months since prior craniospinal radiotherapy - At least 4 months since prior radiotherapy to ≥ 50% of the pelvis - At least 6 weeks since other prior substantial bone marrow radiotherapy - At least 2 weeks since prior local palliative small-port radiotherapy - No concurrent radiotherapy - More than 28 days since prior major surgery - At least 7 days since prior minor surgery (for limited purposes of tissue retrieval) and recovered - At least 24 hours since prior placement of an indwelling IV catheter - At least 1 week since prior full-dose anticoagulation therapy, including systemic thrombolytic agents, heparin, low-molecular weight heparin, and warfarin - Local intralumenal anticoagulants (e.g., heparin or tissue plasminogen activator) allowed to maintain patency of preexisting, permanent, indwelling IV catheters or peripheral IV catheters for blood sampling - More than 1 week since prior antipyretic and anti-inflammatory medications (except acetaminophen) - No concurrent full-dose anticoagulation therapy - No concurrent anti-inflammatory medication - Concurrent acetaminophen allowed - No other concurrent cancer therapy - No other concurrent investigational agents Inclusion Criteria: - Histologically confirmed solid tumor at original diagnosis - Measurable or evaluable* disease - No known curative therapy exists - No lymphomas or primary CNS tumors - No history or clinical evidence of CNS metastasis by head CT scan - Performance status - Karnofsky 50-100% (patients > 10 years of age) - Performance status - Lansky 50-100% (patients ≤ 10 years of age) - At least 8 weeks - Patients without bone marrow involvement: - Absolute neutrophil count ≥ 1,000/mm^3 - Platelet count ≥ 100,000/mm^3 (transfusion independent) - Hemoglobin ≥ 8.0 g/dL (RBC transfusion allowed) - Patients with bone marrow metastases: - Platelet count ≥ 75,000/mm^3 (transfusion independent) - Granulocytopenia, anemia, and/or mild thrombocytopenia allowed - No known bleeding diathesis or coagulopathy - No known thrombophilic condition (e.g., protein S, protein C, or antithrombin III deficiency, Factor V Leiden, Factor II G20210A mutation, homocystinemia, or antiphospholipid antibody syndrome) - PT or PTT ≤ 1.2 times upper limit of normal (ULN) - ALT ≤ 5 times ULN - Bilirubin ≤ 1.5 times ULN - Albumin ≥ 2 g/dL - Creatinine clearance or radioisotope glomerular filtrationrate ≥ 70 mL/min - Creatinine based on age as follows: - Creatinine ≤ 0.8 mg/dL (patients ≤ 5 years of age) - Creatinine ≤ 1.0 mg/dL (patients 6 to 10 years of age) - Creatinine ≤ 1.2 mg/dL (patients 11 to 15 years of age) - Creatinine ≤ 1.5 mg/dL (patients > 15 years of age) - No proteinuria - 24-hour urine protein ≤ 500 mg - No history of stroke - No deep venous or arterial thrombosis within the past 3 months - No uncontrolled hypertension - Hypertension must be well-controlled with stable doses of medication for at least 2 weeks - No history of myocardial infarction - No severe or unstable angina - No transient ischemic attack within the past 6 months - No cerebrovascular accident within the past 6 months - No other arterial thromboembolic event within the past 6 months - No clinically significant or severe peripheral vascular disease - No pulmonary embolism within the past 3 months - Not pregnant or nursing - Negative pregnancy test - Fertile patients must use effective contraception during and for at least 3 months after study participation - No chronic non-healing wound, ulcer, or bone fracture - No significant traumatic injury within the past 28 days - No uncontrolled seizures - No uncontrolled infection - No known hypersensitivity to Chinese hamster ovary cell products or other recombinant human antibodies - Recovered from prior immunotherapy - More than 1 week since prior growth factors - At least 2 months since prior stem cell transplantation - No evidence of active graft-vs-host disease - At least 8 weeks since prior monoclonal antibody therapy - At least 7 days since prior antineoplastic biologic agents - No prior bevacizumab - No concurrent prophylactic growth factors - No other concurrent immunotherapy or biologic therapy - More than 3 weeks since prior myelosuppressive chemotherapy (6 weeks for nitrosoureas) and recovered - No concurrent chemotherapy - Recovered from prior radiotherapy - At least 4 months since prior craniospinal radiotherapy - At least 4 months since prior radiotherapy to ≥ 50% of the pelvis - At least 6 weeks since other prior substantial bone marrow radiotherapy - At least 2 weeks since prior local palliative small-port radiotherapy - No concurrent radiotherapy - More than 28 days since prior major surgery - At least 7 days since prior minor surgery (for limited purposes of tissue retrieval) and recovered - At least 24 hours since prior placement of an indwelling IV catheter - At least 1 week since prior full-dose anticoagulation therapy, including systemic thrombolytic agents, heparin, low-molecular weight heparin, and warfarin - Local intralumenal anticoagulants (e.g., heparin or tissue plasminogen activator) allowed to maintain patency of preexisting, permanent, indwelling IV catheters or peripheral IV catheters for blood sampling - More than 1 week since prior antipyretic and anti-inflammatory medications (except acetaminophen) - No concurrent full-dose anticoagulation therapy - No concurrent anti-inflammatory medication - Concurrent acetaminophen allowed - No other concurrent cancer therapy - No other concurrent investigational agents Unspecified Childhood Solid Tumor, Protocol Specific Neoplasms PRIMARY OBJECTIVES: I. To estimate the maximum tolerable dose (MTD) of bevacizumab by dose escalation to a maximum of 15mg/kg, even if MTD is not reached, administered as an intravenous infusion, every 2 weeks to children with refractory solid tumors. --- G20210A ---

Inclusion Criteria: - Histologically confirmed solid tumor at original diagnosis - Measurable or evaluable* disease - No known curative therapy exists - No lymphomas or primary CNS tumors - No history or clinical evidence of CNS metastasis by head CT scan - Performance status - Karnofsky 50-100% (patients > 10 years of age) - Performance status - Lansky 50-100% (patients ≤ 10 years of age) - At least 8 weeks - Patients without bone marrow involvement: - Absolute neutrophil count ≥ 1,000/mm^3 - Platelet count ≥ 100,000/mm^3 (transfusion independent) - Hemoglobin ≥ 8.0 g/dL (RBC transfusion allowed) - Patients with bone marrow metastases: - Platelet count ≥ 75,000/mm^3 (transfusion independent) - Granulocytopenia, anemia, and/or mild thrombocytopenia allowed - No known bleeding diathesis or coagulopathy - No known thrombophilic condition (e.g., protein S, protein C, or antithrombin III deficiency, Factor V Leiden, Factor II G20210A mutation, homocystinemia, or antiphospholipid antibody syndrome) - PT or PTT ≤ 1.2 times upper limit of normal (ULN) - ALT ≤ 5 times ULN - Bilirubin ≤ 1.5 times ULN - Albumin ≥ 2 g/dL - Creatinine clearance or radioisotope glomerular filtrationrate ≥ 70 mL/min - Creatinine based on age as follows: - Creatinine ≤ 0.8 mg/dL (patients ≤ 5 years of age) - Creatinine ≤ 1.0 mg/dL (patients 6 to 10 years of age) - Creatinine ≤ 1.2 mg/dL (patients 11 to 15 years of age) - Creatinine ≤ 1.5 mg/dL (patients > 15 years of age) - No proteinuria - 24-hour urine protein ≤ 500 mg - No history of stroke - No deep venous or arterial thrombosis within the past 3 months - No uncontrolled hypertension - Hypertension must be well-controlled with stable doses of medication for at least 2 weeks - No history of myocardial infarction - No severe or unstable angina - No transient ischemic attack within the past 6 months - No cerebrovascular accident within the past 6 months - No other arterial thromboembolic event within the past 6 months - No clinically significant or severe peripheral vascular disease - No pulmonary embolism within the past 3 months - Not pregnant or nursing - Negative pregnancy test - Fertile patients must use effective contraception during and for at least 3 months after study participation - No chronic non-healing wound, ulcer, or bone fracture - No significant traumatic injury within the past 28 days - No uncontrolled seizures - No uncontrolled infection - No known hypersensitivity to Chinese hamster ovary cell products or other recombinant human antibodies - Recovered from prior immunotherapy - More than 1 week since prior growth factors - At least 2 months since prior stem cell transplantation - No evidence of active graft-vs-host disease - At least 8 weeks since prior monoclonal antibody therapy - At least 7 days since prior antineoplastic biologic agents - No prior bevacizumab - No concurrent prophylactic growth factors - No other concurrent immunotherapy or biologic therapy - More than 3 weeks since prior myelosuppressive chemotherapy (6 weeks for nitrosoureas) and recovered - No concurrent chemotherapy - Recovered from prior radiotherapy - At least 4 months since prior craniospinal radiotherapy - At least 4 months since prior radiotherapy to ≥ 50% of the pelvis - At least 6 weeks since other prior substantial bone marrow radiotherapy - At least 2 weeks since prior local palliative small-port radiotherapy - No concurrent radiotherapy - More than 28 days since prior major surgery - At least 7 days since prior minor surgery (for limited purposes of tissue retrieval) and recovered - At least 24 hours since prior placement of an indwelling IV catheter - At least 1 week since prior full-dose anticoagulation therapy, including systemic thrombolytic agents, heparin, low-molecular weight heparin, and warfarin - Local intralumenal anticoagulants (e.g., heparin or tissue plasminogen activator) allowed to maintain patency of preexisting, permanent, indwelling IV catheters or peripheral IV catheters for blood sampling - More than 1 week since prior antipyretic and anti-inflammatory medications (except acetaminophen) - No concurrent full-dose anticoagulation therapy - No concurrent anti-inflammatory medication - Concurrent acetaminophen allowed - No other concurrent cancer therapy - No other concurrent investigational agents Inclusion Criteria: - Histologically confirmed solid tumor at original diagnosis - Measurable or evaluable* disease - No known curative therapy exists - No lymphomas or primary CNS tumors - No history or clinical evidence of CNS metastasis by head CT scan - Performance status - Karnofsky 50-100% (patients > 10 years of age) - Performance status - Lansky 50-100% (patients ≤ 10 years of age) - At least 8 weeks - Patients without bone marrow involvement: - Absolute neutrophil count ≥ 1,000/mm^3 - Platelet count ≥ 100,000/mm^3 (transfusion independent) - Hemoglobin ≥ 8.0 g/dL (RBC transfusion allowed) - Patients with bone marrow metastases: - Platelet count ≥ 75,000/mm^3 (transfusion independent) - Granulocytopenia, anemia, and/or mild thrombocytopenia allowed - No known bleeding diathesis or coagulopathy - No known thrombophilic condition (e.g., protein S, protein C, or antithrombin III deficiency, Factor V Leiden, Factor II G20210A mutation, homocystinemia, or antiphospholipid antibody syndrome) - PT or PTT ≤ 1.2 times upper limit of normal (ULN) - ALT ≤ 5 times ULN - Bilirubin ≤ 1.5 times ULN - Albumin ≥ 2 g/dL - Creatinine clearance or radioisotope glomerular filtrationrate ≥ 70 mL/min - Creatinine based on age as follows: - Creatinine ≤ 0.8 mg/dL (patients ≤ 5 years of age) - Creatinine ≤ 1.0 mg/dL (patients 6 to 10 years of age) - Creatinine ≤ 1.2 mg/dL (patients 11 to 15 years of age) - Creatinine ≤ 1.5 mg/dL (patients > 15 years of age) - No proteinuria - 24-hour urine protein ≤ 500 mg - No history of stroke - No deep venous or arterial thrombosis within the past 3 months - No uncontrolled hypertension - Hypertension must be well-controlled with stable doses of medication for at least 2 weeks - No history of myocardial infarction - No severe or unstable angina - No transient ischemic attack within the past 6 months - No cerebrovascular accident within the past 6 months - No other arterial thromboembolic event within the past 6 months - No clinically significant or severe peripheral vascular disease - No pulmonary embolism within the past 3 months - Not pregnant or nursing - Negative pregnancy test - Fertile patients must use effective contraception during and for at least 3 months after study participation - No chronic non-healing wound, ulcer, or bone fracture - No significant traumatic injury within the past 28 days - No uncontrolled seizures - No uncontrolled infection - No known hypersensitivity to Chinese hamster ovary cell products or other recombinant human antibodies - Recovered from prior immunotherapy - More than 1 week since prior growth factors - At least 2 months since prior stem cell transplantation - No evidence of active graft-vs-host disease - At least 8 weeks since prior monoclonal antibody therapy - At least 7 days since prior antineoplastic biologic agents - No prior bevacizumab - No concurrent prophylactic growth factors - No other concurrent immunotherapy or biologic therapy - More than 3 weeks since prior myelosuppressive chemotherapy (6 weeks for nitrosoureas) and recovered - No concurrent chemotherapy - Recovered from prior radiotherapy - At least 4 months since prior craniospinal radiotherapy - At least 4 months since prior radiotherapy to ≥ 50% of the pelvis - At least 6 weeks since other prior substantial bone marrow radiotherapy - At least 2 weeks since prior local palliative small-port radiotherapy - No concurrent radiotherapy - More than 28 days since prior major surgery - At least 7 days since prior minor surgery (for limited purposes of tissue retrieval) and recovered - At least 24 hours since prior placement of an indwelling IV catheter - At least 1 week since prior full-dose anticoagulation therapy, including systemic thrombolytic agents, heparin, low-molecular weight heparin, and warfarin - Local intralumenal anticoagulants (e.g., heparin or tissue plasminogen activator) allowed to maintain patency of preexisting, permanent, indwelling IV catheters or peripheral IV catheters for blood sampling - More than 1 week since prior antipyretic and anti-inflammatory medications (except acetaminophen) - No concurrent full-dose anticoagulation therapy - No concurrent anti-inflammatory medication - Concurrent acetaminophen allowed - No other concurrent cancer therapy - No other concurrent investigational agents Unspecified Childhood Solid Tumor, Protocol Specific Neoplasms PRIMARY OBJECTIVES: I. To estimate the maximum tolerable dose (MTD) of bevacizumab by dose escalation to a maximum of 15mg/kg, even if MTD is not reached, administered as an intravenous infusion, every 2 weeks to children with refractory solid tumors. --- G20210A --- --- G20210A ---

Primary Outcomes

Measure: Maximum tolerated dose defined based on the dose-limiting toxicities graded according to Common Terminology Criteria for Adverse Events v3.0

Time: 28 days

5 A Multicenter, Multinational Study to Assess the Safety and Efficacy of Antithrombin Alfa in Hereditary Antithrombin (AT) Deficient Patients in High-Risk Situations for Thrombosis

Patients with hereditary antithrombin deficiency are at increased risk of venous thrombosis and pulmonary embolism, particularly during certain high risk procedures. The trial focused on patients with confirmed hereditary antithrombin deficiency who were undergoing a surgical procedure or induced/spontaneous labor and delivery, and/or caesarean section. The study assessed the incidence of thromboembolic events following prophylactic intravenous administration of recombinant human antithrombin (rhAT) to patients with hereditary antithrombin (AT) deficiency in situations usually associated with a high risk for thromboembolic events.

NCT00110513
Conditions
  1. Antithrombin III Deficiency
Interventions
  1. Biological: Recombinant human antithrombin (rhAT)
MeSH:Antithrombin III Deficiency
HPO:Reduced antithrombin III activity

activated protein C(APC) resistance/Factor V Leiden, Protein S or C deficiency, prothrombin gene mutation (G20210A), or acquired (lupus anticoagulant) thrombophilic disorder). --- G20210A ---

In September 2006, GTC Biotherapeutics modified exclusion criteria 1 (below) to allow for the participation of previously excluded patients with the hereditary thrombophilic disorders Factor V Leiden and prothrombin gene mutation (G20210A). --- G20210A ---

Primary Outcomes

Description: To assess the incidence of thromboembolic events acute deep venous thrombosis (DVT) and/or thromboembolic events other than acute deep venous thrombosis (DVT) by clinical signs and symptoms of venous thromboembolism (VTE), confirmed by diagnostic assessments.

Measure: Incidence of Thromboembolic Events Acute Deep Venous Thrombosis (DVT) and/or Thromboembolic Events Other Than Acute Deep Venous Thrombosis (DVT)

Time: During treatment and follow up period of 7 days

6 Low Molecular Weight Heparin Vs No Treatment in Pregnant Women With Previous Preeclampsia or Fetal Growth Restriction Who Were Heterozygote for Factor V Leiden or Prothrombin Gene G20210A Mutation

The objective of this trial will be to determine whether prophylactic low-molecular weight heparin therapy in pregnant women with the heterozygous Factor V Leiden and G20210A prothrombin gene mutations thrombophilia and a history of severe preeclampsia and/or severe fetal growth restriction reduces the risk of the composite outcome of preeclampsia, fetal growth restriction, or both.

NCT00260520
Conditions
  1. Preeclampsia
Interventions
  1. Drug: Dalteparin
MeSH:Pre-Eclampsia Fetal Growth Retardation
HPO:Intrauterine growth retardation Preeclampsia Toxemia of pregnancy

Low Molecular Weight Heparin Vs No Treatment in Pregnant Women With Previous Preeclampsia or Fetal Growth Restriction Who Were Heterozygote for Factor V Leiden or Prothrombin Gene G20210A Mutation. --- G20210A ---

LMWH to Prevent Preeclampsia and Fetal Growth Restriction The objective of this trial will be to determine whether prophylactic low-molecular weight heparin therapy in pregnant women with the heterozygous Factor V Leiden and G20210A prothrombin gene mutations thrombophilia and a history of severe preeclampsia and/or severe fetal growth restriction reduces the risk of the composite outcome of preeclampsia, fetal growth restriction, or both. --- G20210A ---

Inclusion Criteria: - Previous severe preeclampsia - Previous severe fetal growth restriction - Heterozygous Factor V Leiden - Heterozygous G20210A prothrombin gene mutations Exclusion Criteria: - renal disease - chronic hypertension - preexisting diabetes mellitus - homozygosity for Factor V Leiden - homozygosity for prothrombin G20210A mutation - hyperhomocysteinemia - protein C deficency - protein S deficency - antithrombin deficiency - positive anticardiolipin antibodies - positive lupus anticoagulant Inclusion Criteria: - Previous severe preeclampsia - Previous severe fetal growth restriction - Heterozygous Factor V Leiden - Heterozygous G20210A prothrombin gene mutations Exclusion Criteria: - renal disease - chronic hypertension - preexisting diabetes mellitus - homozygosity for Factor V Leiden - homozygosity for prothrombin G20210A mutation - hyperhomocysteinemia - protein C deficency - protein S deficency - antithrombin deficiency - positive anticardiolipin antibodies - positive lupus anticoagulant Preeclampsia Pre-Eclampsia Fetal Growth Retardation The objective of this trial will be to determine whether prophylactic low-molecular weight heparin therapy in pregnant women with the heterozygous Factor V Leiden and G20210A prothrombin gene mutations thrombophilia and a history of severe preeclampsia and/or severe fetal growth restriction reduces the risk of the composite outcome of preeclampsia, fetal growth restriction, or both. --- G20210A ---

Inclusion Criteria: - Previous severe preeclampsia - Previous severe fetal growth restriction - Heterozygous Factor V Leiden - Heterozygous G20210A prothrombin gene mutations Exclusion Criteria: - renal disease - chronic hypertension - preexisting diabetes mellitus - homozygosity for Factor V Leiden - homozygosity for prothrombin G20210A mutation - hyperhomocysteinemia - protein C deficency - protein S deficency - antithrombin deficiency - positive anticardiolipin antibodies - positive lupus anticoagulant Inclusion Criteria: - Previous severe preeclampsia - Previous severe fetal growth restriction - Heterozygous Factor V Leiden - Heterozygous G20210A prothrombin gene mutations Exclusion Criteria: - renal disease - chronic hypertension - preexisting diabetes mellitus - homozygosity for Factor V Leiden - homozygosity for prothrombin G20210A mutation - hyperhomocysteinemia - protein C deficency - protein S deficency - antithrombin deficiency - positive anticardiolipin antibodies - positive lupus anticoagulant Preeclampsia Pre-Eclampsia Fetal Growth Retardation The objective of this trial will be to determine whether prophylactic low-molecular weight heparin therapy in pregnant women with the heterozygous Factor V Leiden and G20210A prothrombin gene mutations thrombophilia and a history of severe preeclampsia and/or severe fetal growth restriction reduces the risk of the composite outcome of preeclampsia, fetal growth restriction, or both. --- G20210A --- --- G20210A ---

Inclusion Criteria: - Previous severe preeclampsia - Previous severe fetal growth restriction - Heterozygous Factor V Leiden - Heterozygous G20210A prothrombin gene mutations Exclusion Criteria: - renal disease - chronic hypertension - preexisting diabetes mellitus - homozygosity for Factor V Leiden - homozygosity for prothrombin G20210A mutation - hyperhomocysteinemia - protein C deficency - protein S deficency - antithrombin deficiency - positive anticardiolipin antibodies - positive lupus anticoagulant Inclusion Criteria: - Previous severe preeclampsia - Previous severe fetal growth restriction - Heterozygous Factor V Leiden - Heterozygous G20210A prothrombin gene mutations Exclusion Criteria: - renal disease - chronic hypertension - preexisting diabetes mellitus - homozygosity for Factor V Leiden - homozygosity for prothrombin G20210A mutation - hyperhomocysteinemia - protein C deficency - protein S deficency - antithrombin deficiency - positive anticardiolipin antibodies - positive lupus anticoagulant Preeclampsia Pre-Eclampsia Fetal Growth Retardation The objective of this trial will be to determine whether prophylactic low-molecular weight heparin therapy in pregnant women with the heterozygous Factor V Leiden and G20210A prothrombin gene mutations thrombophilia and a history of severe preeclampsia and/or severe fetal growth restriction reduces the risk of the composite outcome of preeclampsia, fetal growth restriction, or both. --- G20210A --- --- G20210A --- --- G20210A ---

Inclusion Criteria: - Previous severe preeclampsia - Previous severe fetal growth restriction - Heterozygous Factor V Leiden - Heterozygous G20210A prothrombin gene mutations Exclusion Criteria: - renal disease - chronic hypertension - preexisting diabetes mellitus - homozygosity for Factor V Leiden - homozygosity for prothrombin G20210A mutation - hyperhomocysteinemia - protein C deficency - protein S deficency - antithrombin deficiency - positive anticardiolipin antibodies - positive lupus anticoagulant Inclusion Criteria: - Previous severe preeclampsia - Previous severe fetal growth restriction - Heterozygous Factor V Leiden - Heterozygous G20210A prothrombin gene mutations Exclusion Criteria: - renal disease - chronic hypertension - preexisting diabetes mellitus - homozygosity for Factor V Leiden - homozygosity for prothrombin G20210A mutation - hyperhomocysteinemia - protein C deficency - protein S deficency - antithrombin deficiency - positive anticardiolipin antibodies - positive lupus anticoagulant Preeclampsia Pre-Eclampsia Fetal Growth Retardation The objective of this trial will be to determine whether prophylactic low-molecular weight heparin therapy in pregnant women with the heterozygous Factor V Leiden and G20210A prothrombin gene mutations thrombophilia and a history of severe preeclampsia and/or severe fetal growth restriction reduces the risk of the composite outcome of preeclampsia, fetal growth restriction, or both. --- G20210A --- --- G20210A --- --- G20210A --- --- G20210A ---

Inclusion Criteria: - Previous severe preeclampsia - Previous severe fetal growth restriction - Heterozygous Factor V Leiden - Heterozygous G20210A prothrombin gene mutations Exclusion Criteria: - renal disease - chronic hypertension - preexisting diabetes mellitus - homozygosity for Factor V Leiden - homozygosity for prothrombin G20210A mutation - hyperhomocysteinemia - protein C deficency - protein S deficency - antithrombin deficiency - positive anticardiolipin antibodies - positive lupus anticoagulant Inclusion Criteria: - Previous severe preeclampsia - Previous severe fetal growth restriction - Heterozygous Factor V Leiden - Heterozygous G20210A prothrombin gene mutations Exclusion Criteria: - renal disease - chronic hypertension - preexisting diabetes mellitus - homozygosity for Factor V Leiden - homozygosity for prothrombin G20210A mutation - hyperhomocysteinemia - protein C deficency - protein S deficency - antithrombin deficiency - positive anticardiolipin antibodies - positive lupus anticoagulant Preeclampsia Pre-Eclampsia Fetal Growth Retardation The objective of this trial will be to determine whether prophylactic low-molecular weight heparin therapy in pregnant women with the heterozygous Factor V Leiden and G20210A prothrombin gene mutations thrombophilia and a history of severe preeclampsia and/or severe fetal growth restriction reduces the risk of the composite outcome of preeclampsia, fetal growth restriction, or both. --- G20210A --- --- G20210A --- --- G20210A --- --- G20210A --- --- G20210A ---


7 Use of Whole Blood and Cell-rich Coagulation Assays for the Detection of Non-Overt DIC in Sepsis

Sepsis is the 13th most common cause of death in the United States, causing approximately 210,000 deaths per year. Once DIC has developed, irreversible organ injury has already occurred and the mortality rate is 70%. Inhibition of systemic coagulation with activated protein C concentrate has been the only therapy for sepsis introduced in the past several decades which has improved outcomes. Elucidation of the coagulopathic mechanisms early in the development of DIC may give rise to targeted therapies and strategies for early intervention. We hypothesize that an increase in endogenous thrombin potential precedes the development of overt DIC by a clinically significant time period. Our primary objective is to determine if endogenous thrombin potential (ETP) measured at first diagnosis of sepsis prior to the onset of DIC and organ failure is predictive of overt DIC and/or poor outcome. We will compare ETP to standard coagulation assays and the clinical assessment of DIC using the ISTH criteria for overt DIC. A secondary objective of this study is to determine if host coagulation variables predispose to the development of DIC and poor clinical outcome during sepsis.

NCT00299949
Conditions
  1. Sepsis
  2. Disseminated Intravascular Coagulation
MeSH:Sepsis Disseminated Intravascular Coagulation
HPO:Disseminated intravascular coagulation Sepsis

Cbc, PT/PTT, Fibrinogen, d-dimer, Protein C activity, Protein S activity, ATIII activity, Factor V Leiden mutation, Prothrombin G20210A mutation analysis will be performed in Memorial Herman Hospital clinical laboratories. --- G20210A ---

The secondary objective will be to compare host coagulation variables, including ETP, roTEG, Pro C, Pro S, ATIII, FVL, and prothrombin G20210A mutation at presentation, with the secondary outcome measures of 28-day mortality and organ dysfunction. --- G20210A ---

Primary Outcomes

Description: ETP will be used to predict 28 day mortality

Measure: Mortality

Time: 28 days

8 Phase III Study Analyzing the Effectiveness of Dalteparin Therapy as Intervention in Recurrent Pregnancy Loss

With this clinical trial the investigators will analyze whether the rate of pregnancy losses before the 24th week of gestation can be reduced by dalteparin treatment in habitual aborters.

NCT00400387
Conditions
  1. Abortion, Habitual
Interventions
  1. Drug: Fragmin P Forte (dalteparin sodium)
  2. Dietary Supplement: Multivitamin supplement
MeSH:Abortion, Habitual

Likewise, other thrombophilic risk factors including factor II G20210A, hyperhomocysteinemia, protein C, protein S and antithrombin deficiencies have also been associated with RPL (Sanson 1996; Brenner 1999). --- G20210A ---

Primary Outcomes

Measure: ongoing intact pregnancy at 24 weeks of gestation

Time: at 24 weeks of gestation

Secondary Outcomes

Measure: late pregnancy complication, defined as at least one of the following: preterm delivery, placenta insufficiency, intrauterine growth retardation, preeclampsia and abruptio placentae

Time: 6-8 weeks after delivery

Measure: foetus with structural anomalies

Time: 6-8 weeks after delivery

Measure: side effects of dalteparin therapy (e.g. thrombocytopenia, osteoporosis, haemorrhage)

Time: 6-8 weeks after delivery

Measure: life birth

Time: 6-8 weeks after delivery

Measure: preterm delivery (< 37 weeks of gestation)

Time: 6-8 weeks after delivery

9 The Negative Predictive Value of D-dimer on the Risk of Recurrent Venous Thromboembolism in Patients With Multiple Previous Events: a Prospective Cohort Study

Optimal duration of oral anticoagulant therapy in patients with recurrent episodes of venous thromboembolism (VTE) is a matter of debate and recommendations are based on inadequate evidence. More than 12 months of treatment are currently recommended, and the grade of recommendation is low. The PROLONG study has recently evaluated the predictive role of D-dimer measurement after withholding oral anticoagulant treatment in patients with a first episode of VTE. Patients with a positive D-dimer had a significantly higher incidence of VTE recurrences than patients with a negative D-dimer and required resumption of the antithrombotic treatment. Based on the results of this and of previous cohort studies, it appears safe to withhold treatment in patients with negative D-dimer values and to continue treatment in patients with altered D-dimer levels. Aim of this study is therefore to assess the negative predictive value of D-dimer also in patients with recurrent VTE and to evaluate the clinical utility of this approach in this patient setting.

NCT00428441
Conditions
  1. Venous Thromboembolism
Interventions
  1. Drug: Warfarin
MeSH:Thromboembolism Venous Thromboembolism
HPO:Thromboembolism

Inclusion Criteria: - Patients with at least two episodes of objectively documented venous thromboembolism (at least one proximal deep vein thrombosis or pulmonary embolism) - Ongoing treatment with oral anticoagulants for at least a) 12 months in case idiopathic DVT was the last event; b) 6 months in all other cases - Age > 18 years - Informed consent provided Exclusion Criteria: - Pregnancy/puerperium - One or more episodes of massive pulmonary embolism - Last event isolated idiopathic pulmonary embolism - Two or more idiopathic VTE events - First degree relatives with recurrent VTE - Right ventricular disfunction or pulmonary hypertension - Active cancer - Antiphospholipid antibodies syndrome - Antithrombin deficiency - Homozygous Factor V Leiden or G20210A prothrombin mutation - Heterozygous Factor V Leiden and G20210A prothrombin mutation - Concomitant congenital thrombophilic mutations - Concomitant indications to long term oral anticoagulant treatment - Severe cardiorespiratory insufficiency - Severe liver or renal disease (creatinine clearance > 2 mg/dL) - Limited life expectancy - Geographic inaccessibility Inclusion Criteria: - Patients with at least two episodes of objectively documented venous thromboembolism (at least one proximal deep vein thrombosis or pulmonary embolism) - Ongoing treatment with oral anticoagulants for at least a) 12 months in case idiopathic DVT was the last event; b) 6 months in all other cases - Age > 18 years - Informed consent provided Exclusion Criteria: - Pregnancy/puerperium - One or more episodes of massive pulmonary embolism - Last event isolated idiopathic pulmonary embolism - Two or more idiopathic VTE events - First degree relatives with recurrent VTE - Right ventricular disfunction or pulmonary hypertension - Active cancer - Antiphospholipid antibodies syndrome - Antithrombin deficiency - Homozygous Factor V Leiden or G20210A prothrombin mutation - Heterozygous Factor V Leiden and G20210A prothrombin mutation - Concomitant congenital thrombophilic mutations - Concomitant indications to long term oral anticoagulant treatment - Severe cardiorespiratory insufficiency - Severe liver or renal disease (creatinine clearance > 2 mg/dL) - Limited life expectancy - Geographic inaccessibility Venous Thromboembolism Thromboembolism Venous Thromboembolism null --- G20210A ---

Inclusion Criteria: - Patients with at least two episodes of objectively documented venous thromboembolism (at least one proximal deep vein thrombosis or pulmonary embolism) - Ongoing treatment with oral anticoagulants for at least a) 12 months in case idiopathic DVT was the last event; b) 6 months in all other cases - Age > 18 years - Informed consent provided Exclusion Criteria: - Pregnancy/puerperium - One or more episodes of massive pulmonary embolism - Last event isolated idiopathic pulmonary embolism - Two or more idiopathic VTE events - First degree relatives with recurrent VTE - Right ventricular disfunction or pulmonary hypertension - Active cancer - Antiphospholipid antibodies syndrome - Antithrombin deficiency - Homozygous Factor V Leiden or G20210A prothrombin mutation - Heterozygous Factor V Leiden and G20210A prothrombin mutation - Concomitant congenital thrombophilic mutations - Concomitant indications to long term oral anticoagulant treatment - Severe cardiorespiratory insufficiency - Severe liver or renal disease (creatinine clearance > 2 mg/dL) - Limited life expectancy - Geographic inaccessibility Inclusion Criteria: - Patients with at least two episodes of objectively documented venous thromboembolism (at least one proximal deep vein thrombosis or pulmonary embolism) - Ongoing treatment with oral anticoagulants for at least a) 12 months in case idiopathic DVT was the last event; b) 6 months in all other cases - Age > 18 years - Informed consent provided Exclusion Criteria: - Pregnancy/puerperium - One or more episodes of massive pulmonary embolism - Last event isolated idiopathic pulmonary embolism - Two or more idiopathic VTE events - First degree relatives with recurrent VTE - Right ventricular disfunction or pulmonary hypertension - Active cancer - Antiphospholipid antibodies syndrome - Antithrombin deficiency - Homozygous Factor V Leiden or G20210A prothrombin mutation - Heterozygous Factor V Leiden and G20210A prothrombin mutation - Concomitant congenital thrombophilic mutations - Concomitant indications to long term oral anticoagulant treatment - Severe cardiorespiratory insufficiency - Severe liver or renal disease (creatinine clearance > 2 mg/dL) - Limited life expectancy - Geographic inaccessibility Venous Thromboembolism Thromboembolism Venous Thromboembolism null --- G20210A --- --- G20210A ---

Inclusion Criteria: - Patients with at least two episodes of objectively documented venous thromboembolism (at least one proximal deep vein thrombosis or pulmonary embolism) - Ongoing treatment with oral anticoagulants for at least a) 12 months in case idiopathic DVT was the last event; b) 6 months in all other cases - Age > 18 years - Informed consent provided Exclusion Criteria: - Pregnancy/puerperium - One or more episodes of massive pulmonary embolism - Last event isolated idiopathic pulmonary embolism - Two or more idiopathic VTE events - First degree relatives with recurrent VTE - Right ventricular disfunction or pulmonary hypertension - Active cancer - Antiphospholipid antibodies syndrome - Antithrombin deficiency - Homozygous Factor V Leiden or G20210A prothrombin mutation - Heterozygous Factor V Leiden and G20210A prothrombin mutation - Concomitant congenital thrombophilic mutations - Concomitant indications to long term oral anticoagulant treatment - Severe cardiorespiratory insufficiency - Severe liver or renal disease (creatinine clearance > 2 mg/dL) - Limited life expectancy - Geographic inaccessibility Inclusion Criteria: - Patients with at least two episodes of objectively documented venous thromboembolism (at least one proximal deep vein thrombosis or pulmonary embolism) - Ongoing treatment with oral anticoagulants for at least a) 12 months in case idiopathic DVT was the last event; b) 6 months in all other cases - Age > 18 years - Informed consent provided Exclusion Criteria: - Pregnancy/puerperium - One or more episodes of massive pulmonary embolism - Last event isolated idiopathic pulmonary embolism - Two or more idiopathic VTE events - First degree relatives with recurrent VTE - Right ventricular disfunction or pulmonary hypertension - Active cancer - Antiphospholipid antibodies syndrome - Antithrombin deficiency - Homozygous Factor V Leiden or G20210A prothrombin mutation - Heterozygous Factor V Leiden and G20210A prothrombin mutation - Concomitant congenital thrombophilic mutations - Concomitant indications to long term oral anticoagulant treatment - Severe cardiorespiratory insufficiency - Severe liver or renal disease (creatinine clearance > 2 mg/dL) - Limited life expectancy - Geographic inaccessibility Venous Thromboembolism Thromboembolism Venous Thromboembolism null --- G20210A --- --- G20210A --- --- G20210A ---

Inclusion Criteria: - Patients with at least two episodes of objectively documented venous thromboembolism (at least one proximal deep vein thrombosis or pulmonary embolism) - Ongoing treatment with oral anticoagulants for at least a) 12 months in case idiopathic DVT was the last event; b) 6 months in all other cases - Age > 18 years - Informed consent provided Exclusion Criteria: - Pregnancy/puerperium - One or more episodes of massive pulmonary embolism - Last event isolated idiopathic pulmonary embolism - Two or more idiopathic VTE events - First degree relatives with recurrent VTE - Right ventricular disfunction or pulmonary hypertension - Active cancer - Antiphospholipid antibodies syndrome - Antithrombin deficiency - Homozygous Factor V Leiden or G20210A prothrombin mutation - Heterozygous Factor V Leiden and G20210A prothrombin mutation - Concomitant congenital thrombophilic mutations - Concomitant indications to long term oral anticoagulant treatment - Severe cardiorespiratory insufficiency - Severe liver or renal disease (creatinine clearance > 2 mg/dL) - Limited life expectancy - Geographic inaccessibility Inclusion Criteria: - Patients with at least two episodes of objectively documented venous thromboembolism (at least one proximal deep vein thrombosis or pulmonary embolism) - Ongoing treatment with oral anticoagulants for at least a) 12 months in case idiopathic DVT was the last event; b) 6 months in all other cases - Age > 18 years - Informed consent provided Exclusion Criteria: - Pregnancy/puerperium - One or more episodes of massive pulmonary embolism - Last event isolated idiopathic pulmonary embolism - Two or more idiopathic VTE events - First degree relatives with recurrent VTE - Right ventricular disfunction or pulmonary hypertension - Active cancer - Antiphospholipid antibodies syndrome - Antithrombin deficiency - Homozygous Factor V Leiden or G20210A prothrombin mutation - Heterozygous Factor V Leiden and G20210A prothrombin mutation - Concomitant congenital thrombophilic mutations - Concomitant indications to long term oral anticoagulant treatment - Severe cardiorespiratory insufficiency - Severe liver or renal disease (creatinine clearance > 2 mg/dL) - Limited life expectancy - Geographic inaccessibility Venous Thromboembolism Thromboembolism Venous Thromboembolism null --- G20210A --- --- G20210A --- --- G20210A --- --- G20210A ---

Primary Outcomes

Description: Objectively documented deep vein thrombosis, pulmonary embolism, superficial vein thrombosis

Measure: Recurrent Deep Vein Thrombosis or Pulmonary Embolism in Patients With Persistently Negative D-dimer Levels

Time: 1 year

Measure: Rate of Patients With Altered D-dimer Levels and Temporal Distribution of Alterations

Time: 3 months

Secondary Outcomes

Measure: Recurrent Deep Vein Thrombosis or Pulmonary Embolism in Patients Who Resumed Oral Anticoagulant Therapy

Time: 3 months

Measure: Incidence of Major Bleeding in Patients Who Resumed Oral Anticoagulant Therapy

Time: 3 months

Measure: Mortality

Time: 3 months

10 Chemotherapy With or Without Preventive Anticoagulation for Metastatic Cancer of the Pancreas

RATIONALE: Drugs used in chemotherapy, such as gemcitabine and capecitabine, work in different ways to stop the growth of tumor cells, either by killing the cells or by stopping them from dividing. Anticoagulants, such as dalteparin, may help prevent blood clots from forming in patients being treated with chemotherapy. It is not yet known whether gemcitabine is more effective when given alone or together with dalteparin and/or capecitabine in treating patients with pancreatic cancer. PURPOSE: This randomized phase III trial is studying whether dalteparin prevents blood clots in patients with pancreatic cancer receiving treatment with different combinations of gemcitabine and capecitabine.

NCT00662688
Conditions
  1. Chemotherapeutic Agent Toxicity
  2. Pancreatic Cancer
  3. Thromboembolism
Interventions
  1. Drug: daltéparine
  2. Drug: Chemotherapy at the investigator's discretion
MeSH:Pancreatic Neoplasms Thromboembolism
HPO:Neoplasm of the pancreas Thromboembolism

Blood is examined for biomarkers, resistance to activated protein C, and mutations (Leiden V factor, mutation G20210A, and the factor II gene). --- G20210A ---

Primary Outcomes

Description: number of thromboembolic events during anticoagulation treatment

Measure: Thromboembolic events

Time: during study treatment

Secondary Outcomes

Measure: Progression-free survival

Time: at 6 months

Measure: Overall survival

Time: at one year

Measure: Tolerance of regimens

Time: each cycle

11 Essai thérapeutique randomisé Multicentrique en Double Insu, Comparant l'énoxaparine 40mg Versus Placebo, en Une Injection Sous-cutanée Quotidienne, Dans Les Fausses Couches spontanées récurrentes inexpliquées

Standard investigations fail to reveal any apparent cause in 50% of the cases of recurrent spontaneous abortion. Prothrombotic mechanisms were initially evoked. Factor V Leiden, Prothrombin G20210A mutation and protein S deficiency are implicated in the meta-analysis of Rey (Lancet).However, they do not account for a large number of miscarriages.Gris JC and coworkers (Blood 2004)carried out an open trial, low-molecular-weight heparin versus low-dose aspirin, in women with one fetal loss and with a constitutional thrombophilic disorder. They conclude for a benefit action of Low-molecular-weight heparin. There is actually no trials concerning women with unexplained recurrent abortions and without known thrombophilia. Nevertheless,aspirin or enoxaparin are often prescribed. It is time to assess these practices. We therefore initiate a multisite, double blind randomized study, enoxaparine versus placebo, in women without known thrombophilia, which experienced unexplained recurrent abortions.

NCT00740545
Conditions
  1. Alive and Viable Births
Interventions
  1. Drug: enoxaparine 40 mg daily
  2. Drug: placebo

Factor V Leiden, Prothrombin G20210A mutation and protein S deficiency are implicated in the meta-analysis of Rey (Lancet).However, they do not account for a large number of miscarriages.Gris JC and coworkers (Blood 2004)carried out an open trial, low-molecular-weight heparin versus low-dose aspirin, in women with one fetal loss and with a constitutional thrombophilic disorder. --- G20210A ---

Inclusion Criteria: - Women between 18 and 45 years - 2 or more consecutive spontaneous abortions before the 15th week of pregnancy - Unexplained abortions - No maternal or paternal characterized chromosomal aberration - No Anti-phospholipid Syndrome - No anatomical abnormality possibly responsible for abortion - No Factor V Leiden - No Prothrombin G20210A mutation - No protein S deficiency - No protein C deficiency - No Anti thrombin 3 deficiency - Proved pregnancy Exclusion Criteria: - Contraindications of enoxaparine 4000 U per day - Women with risk of venous thromboembolism during pregnancy - No regular anticoagulation or antiplatelet treatment - Blood Hemoglobin level below 10g/dl - Blood platelet level below 150 000/mm3 - Creatinine clearance below 30ml/mn - Anomaly of the coagulation tests - No informed consent Inclusion Criteria: - Women between 18 and 45 years - 2 or more consecutive spontaneous abortions before the 15th week of pregnancy - Unexplained abortions - No maternal or paternal characterized chromosomal aberration - No Anti-phospholipid Syndrome - No anatomical abnormality possibly responsible for abortion - No Factor V Leiden - No Prothrombin G20210A mutation - No protein S deficiency - No protein C deficiency - No Anti thrombin 3 deficiency - Proved pregnancy Exclusion Criteria: - Contraindications of enoxaparine 4000 U per day - Women with risk of venous thromboembolism during pregnancy - No regular anticoagulation or antiplatelet treatment - Blood Hemoglobin level below 10g/dl - Blood platelet level below 150 000/mm3 - Creatinine clearance below 30ml/mn - Anomaly of the coagulation tests - No informed consent Alive and Viable Births null --- G20210A ---

Inclusion Criteria: - Women between 18 and 45 years - 2 or more consecutive spontaneous abortions before the 15th week of pregnancy - Unexplained abortions - No maternal or paternal characterized chromosomal aberration - No Anti-phospholipid Syndrome - No anatomical abnormality possibly responsible for abortion - No Factor V Leiden - No Prothrombin G20210A mutation - No protein S deficiency - No protein C deficiency - No Anti thrombin 3 deficiency - Proved pregnancy Exclusion Criteria: - Contraindications of enoxaparine 4000 U per day - Women with risk of venous thromboembolism during pregnancy - No regular anticoagulation or antiplatelet treatment - Blood Hemoglobin level below 10g/dl - Blood platelet level below 150 000/mm3 - Creatinine clearance below 30ml/mn - Anomaly of the coagulation tests - No informed consent Inclusion Criteria: - Women between 18 and 45 years - 2 or more consecutive spontaneous abortions before the 15th week of pregnancy - Unexplained abortions - No maternal or paternal characterized chromosomal aberration - No Anti-phospholipid Syndrome - No anatomical abnormality possibly responsible for abortion - No Factor V Leiden - No Prothrombin G20210A mutation - No protein S deficiency - No protein C deficiency - No Anti thrombin 3 deficiency - Proved pregnancy Exclusion Criteria: - Contraindications of enoxaparine 4000 U per day - Women with risk of venous thromboembolism during pregnancy - No regular anticoagulation or antiplatelet treatment - Blood Hemoglobin level below 10g/dl - Blood platelet level below 150 000/mm3 - Creatinine clearance below 30ml/mn - Anomaly of the coagulation tests - No informed consent Alive and Viable Births null --- G20210A --- --- G20210A ---

Primary Outcomes

Measure: Alive and Viable Births

Time: number of born child healthy

12 Prophylactic Enoxaparin Dosing for Prevention of Venous Thromboembolism in Pregnancy.

Enoxaparin is a type of low molecular weight heparin (LMWH), or anticoagulant, used to prevent and treat blood clots. Formation of blood clots, or venous thromboemboli (VTE) in pregnancy can have dangerous and even life-threatening effects on the mother and fetus. Enoxaparin is the preferred medicine to prevent clotting in pregnant patients who are at risk for VTE, because it has been studied to be safe and effective in pregnancy without any harms to the fetus. Although this medication is routinely used and is recommended by several prominent medical groups, the optimal dosing for prevention of VTE is still unclear. The range of standardly prescribed dosing regimens of Enoxaparin includes 40mg daily and 1mg/kg daily, but these two dosing strategies have never been compared in a head to head fashion.

NCT00878826
Conditions
  1. Venous Thrombosis
Interventions
  1. Drug: Enoxaparin
MeSH:Thrombosis Thromboembolism Venous Thromboembolism Venous Thrombosis
HPO:Deep venous thrombosis Thromboembolism Venous thrombosis

Inclusion Criteria: 1. >18 years of age 2. Warrants prophylaxis against venous thromboembolism in pregnancy according to American College of Obstetrics and Gynecology Practice Bulletin 2000, reaffirmed in 2008: - history of idiopathic thrombosis - history of thrombosis related to pregnancy or oral contraceptive use - history of thrombosis accompanied by an underlying thrombophilia other than homozygous for the factor V Leiden mutation, heterozygous for both the factor V Leiden and the prothrombin G20210A mutation, or AT-III deficiency - without a history of thrombosis but who have an underlying thrombophilia and a strong family history of thrombosis - Known thrombophilia except for those listed above, with a history of adverse pregnancy outcome (APO) as defined by: ¡Ý3 pregnancy losses in the 1st trimester, ¡Ý2 pregnancy losses/stillbirth in 2nd trimester, ¡Ý1 pregnancy loss/intrauterine fetal demise (IUFD) in the 3rd trimester, intrauterine growth restriction (IUGR), abruptio placentae, or severe pre-Eclampsia prior to 34 weeks gestation. --- G20210A ---

Exclusion Criteria: 1. Need for therapeutic-level anticoagulation as determined by physician 2. Renal disease as defined by serum creatinine >1.0 3. Weight >90kg 4. Allergy to enoxaparin Inclusion Criteria: 1. >18 years of age 2. Warrants prophylaxis against venous thromboembolism in pregnancy according to American College of Obstetrics and Gynecology Practice Bulletin 2000, reaffirmed in 2008: - history of idiopathic thrombosis - history of thrombosis related to pregnancy or oral contraceptive use - history of thrombosis accompanied by an underlying thrombophilia other than homozygous for the factor V Leiden mutation, heterozygous for both the factor V Leiden and the prothrombin G20210A mutation, or AT-III deficiency - without a history of thrombosis but who have an underlying thrombophilia and a strong family history of thrombosis - Known thrombophilia except for those listed above, with a history of adverse pregnancy outcome (APO) as defined by: ¡Ý3 pregnancy losses in the 1st trimester, ¡Ý2 pregnancy losses/stillbirth in 2nd trimester, ¡Ý1 pregnancy loss/intrauterine fetal demise (IUFD) in the 3rd trimester, intrauterine growth restriction (IUGR), abruptio placentae, or severe pre-Eclampsia prior to 34 weeks gestation. --- G20210A ---

Primary Outcomes

Description: Goal peak anti-Xa level is 0.2 to 0.4 u/ml. We compared peak drug levels between different dosing arms.

Measure: Peak Anti-Xa Level

Time: One measurement per trimester of pregnancy, up to 36 weeks

Secondary Outcomes

Measure: Thromboembolic Events

Time: Enrollment through 6 weeks postpartum

Measure: Bleeding Events

Time: Enrollment through 6 weeks postpartum

Measure: Side Effect - Bruising

Time: Enrollment through 6 weeks postpartum

13 Omega-3 Supplementation Decreases Inflammation and Fetal Obesity in Pregnancy

Randomized, double-blind placebo controlled trial of fish oil to decrease inflammation in pregnancy.

NCT00957476
Conditions
  1. Inflammation
  2. Obesity
  3. Pregnancy
  4. Fetal Growth
Interventions
  1. Dietary Supplement: Omega-3 Fish Oil
MeSH:Obesity Inflammation
HPO:Obesity

- Moderate or high titer IgG anticardiolipin antibodies or prolonged activated PTT or other indication of presence of lupus anticoagulant, homozygous for prothrombin gene (G20210A) mutation, antithrombin III deficiency. --- G20210A ---

Primary Outcomes

Description: cytokine concentration in plasma, placenta and white adipose tissue

Measure: Decreased inflammation during human pregnancy

Time: enrollment (8-16 weeks) to delivery

Secondary Outcomes

Description: insulin sensitivity as estimated by OGTT

Measure: Reduction of insulin resistance

Time: enrollment (8-16 weeks) to delivery

14 VeraCode Genotyping Test for Factor V and Factor II on the BeadXpress System

As an external validation test of the performance of the VeraCode Genotyping Test for Factor V and Factor II on the BeadXpress System, clinical trials will be conducted at three sites. This study will assess genotyping accuracy as compared to bidirectional sequencing and genotyping reproducibility across variables such as user, day, and site.

NCT00959504
Conditions
  1. Detection and Genotyping of Facto
  2. Detection and Genotyping of Factor V and Factor II Point Mutations

Detection of Factor V Leiden G1691A and Factor II (Prothrombin) G20210A Point Mutations in DNA As an external validation test of the performance of the VeraCode Genotyping Test for Factor V and Factor II on the BeadXpress System, clinical trials will be conducted at three sites. --- G1691A --- --- G20210A ---


15 Correlation of Genetic Polymorphism and Livedo Vasculitis

Livedo vasculitis is disease with recurrent courses of painful foot or ankle ulcerations, followed by healed white scars. The actual mechanism of its pathophysiology is not yet clear. It has been reported to be associated with some gene mutations, for example, factor V Leiden gene. This study is aimed to find the possible relation of these gene mutations in Taiwanese patients.

NCT00975871
Conditions
  1. Livedo Vasculitis
  2. Livedoid Vasculitis
  3. Livedoid Vasculopathy
  4. Genetic Pleomorphism
  5. Leiden Mutation
MeSH:Vasculitis
HPO:Vasculitis

It has been reported to be related to factor V Leiden mutation (heterozygous) (22.2%), prothrombin G20210A gene mutation (8.3%), PAI promotor 4G/4G genotype and methylenetetrahydrofolate reductase (MTHFR) C677T mutation in about total 30% livedo vasculitis patients. --- G20210A ---


16 Low Molecular Weight Heparin, Enoxaparin, to Prevent Adverse Maternal and Perinatal Outcomes in Women With Previous Severe Preeclampsia at Less Than 34 Weeks' Gestation. A Prospective Randomized Trial

Preeclampsia (PE) complicates 2-8% of pregnancies. It is associated with an increased risk of adverse maternal (death, eclampsia, abruptio placenta, HELLP syndrome) and perinatal (perinatal death, growth restriction, prematurity) outcomes. The only definite treatment of PE remains pregnancy termination. Therefore, prevention of PE remains an important challenge. Low dose aspirin may be used in the prevention of PE, particularly in women who had a severe preeclampsia before 34 weeks. Its efficiency, however, is very weak. Recently, it has been suggested that low molecular weight heparin might be useful in the prevention of PE. The aim of this study is to analyze the usefulness of the enoxaparin 4000 UI/day in the prevention of a composite maternal or perinatal morbidity (occurrence of one of the following events: maternal death, PE, fetal growth retardation, abruptio placenta, perinatal death) in women who previously had a severe preeclampsia at less than 34 weeks' gestation. To answer this question, the investigators propose to conduct a multicenter prospective randomized trial that will compare two groups in parallel: a group where women will have an association of enoxaparin 4000 U/day and aspirin 100 mg/day and another group where women would have only aspirin 100 mg/day. The number of patients needed is 255 (amendment n°2-approved 06/12/2011) .

NCT00986765
Conditions
  1. Preeclampsia
Interventions
  1. Drug: Lovenox® (enoxaparin)
  2. Drug: Aspegic ® (Aspirin)
MeSH:Pre-Eclampsia
HPO:Preeclampsia Toxemia of pregnancy

Recurrence of preeclampsia controlled for thrombophilia analysis (polymorphism of factor V Leiden, prothrombin G20210A gene polymorphism). --- G20210A ---

Primary Outcomes

Measure: The primary outcome is a composite morbidity that may occur : maternal death, or perinatal death, or preeclampsia, or abruptio placenta, or fetal growth restriction.

Time: from randomization until one month after the delivery

Secondary Outcomes

Measure: Recurrence of preeclampsia alone

Time: from randomization until one month after the delivery

Measure: Recurrence of severe preeclampsia

Time: from randomization until one month after the delivery

Measure: Fetal growth restriction alone

Time: from randomization until one month after the delivery

Measure: Severe fetal growth restriction (< 5th percentile)

Time: from randomization until one month after the delivery

Measure: Perinatal death alone

Time: from randomization until one month after the delivery

Measure: Neonatal death

Time: from randomization until one month after the delivery

Measure: Abruption alone

Time: from randomization until one month after the delivery

Measure: Maternal death

Time: from randomization until one month after the delivery

Measure: Fetal loss (10-21 weeks)

Time: from randomization until one month after the delivery

Measure: Fetal death

Time: from 15 weeks to delivery

Measure: Recurrence of preeclampsia controlled for thrombophilia analysis (polymorphism of factor V Leiden, prothrombin G20210A gene polymorphism)

Time: from randomization until one month after the delivery

Measure: Recurrence of preeclampsia controlled for angiogenic factors (free VEGF and PlGF, sFlt1, sEng)

Time: from randomization until one month after the delivery

Measure: Neonatal morbidity (NICU transfer, length of hospitalization, mechanical ventilation > 24 hours, respiratory distress syndrome, necrotizing enterocolitis, periventricular leucomalacia, bronchopulmonary dysplasia, intraventricular hemorrhage grade III-IV)

Time: from randomization until one month after the delivery

Measure: Enoxaparin toxicity: hemorrhage, skin reaction, thrombocytopenia (<100000/µL) related to heparin

Time: from randomization until one month after the delivery

Measure: Bone fracture

Time: from randomization until one month after the delivery

17 Low Molecular Weight Heparin for Pregnant Women With Thrombophilia: a Prospective, Randomized, Open Trial

The purpose of this study is to investigate whether heparin is an effective treatment in pregnant women at risk for thrombosis and other pregnancy-associated complications.

NCT01019655
Conditions
  1. Pregnancy and Thrombophilia
Interventions
  1. Drug: Nadroparin calcium
MeSH:Thrombophilia
HPO:Hypercoagulability

Inclusion Criteria: - Pregnant women with a singleton pregnancy - Age >18 years - Ability to understand informed consent form Exclusion Criteria: - Allergy/hypersensitivity for nadroparin calcium - Heparin-associated thrombocytopenia - Organ lesions at risk for bleeding such as acute stomach/bowel ulcers, cerebral hemorrhage, cerebral aneurysm - uncontrolled hypertension - Liver and/or renal dysfunction - Known hematologic disease Inclusion Criteria: - Pregnant women with a singleton pregnancy - Age >18 years - Ability to understand informed consent form Exclusion Criteria: - Allergy/hypersensitivity for nadroparin calcium - Heparin-associated thrombocytopenia - Organ lesions at risk for bleeding such as acute stomach/bowel ulcers, cerebral hemorrhage, cerebral aneurysm - uncontrolled hypertension - Liver and/or renal dysfunction - Known hematologic disease Pregnancy and Thrombophilia Thrombophilia Women with thrombophilia, i.e. carriage of a factor V leiden mutation, a factor II prothrombin G20210A mutation or a reduced amount of antithrombin III, protein C or protein S, are at elevated risk for thrombosis and related sequelae. --- G20210A ---

Primary Outcomes

Measure: composite endpoint: pregnancy-associated thrombosis/thromboembolism, miscarriage, preeclampsia, intrauterine growth retardation

Time: 10.5 months

18 Temozolomide With Irinotecan Versus Temozolomide, Irinotecan Plus Bevacizumab (NSC# 704865) for Recurrent/Refractory Medulloblastoma/CNS PNET of Childhood, a COG Randomized Phase II Screening Trial

This randomized phase II trial studies how well giving temozolomide and irinotecan hydrochloride together with or without bevacizumab works in treating young patients with recurrent or refractory medulloblastoma or central nervous system (CNS) primitive neuroectodermal tumors. Drugs used in chemotherapy, such as temozolomide and irinotecan hydrochloride, work in different ways to stop the growth of tumor cells, either by killing the cells, by stopping them from dividing, or by stopping them from spreading. Monoclonal antibodies, such as bevacizumab, can block tumor growth in different ways. Some block the ability of tumor cells to grow and spread. Others find tumor cells and help kill them or carry tumor-killing substances to them. It is not yet known whether temozolomide and irinotecan hydrochloride are more effective with or without bevacizumab in treating medulloblastoma or CNS primitive neuroectodermal tumors.

NCT01217437
Conditions
  1. Central Nervous System Neoplasm
  2. Pineoblastoma
  3. Recurrent Medulloblastoma
  4. Recurrent Primitive Neuroectodermal Tumor
  5. Refractory Medulloblastoma
  6. Refractory Peripheral Primitive Neuroectodermal Tumor
Interventions
  1. Biological: Bevacizumab
  2. Drug: Irinotecan Hydrochloride
  3. Drug: Temozolomide
MeSH:Neoplasms Medulloblastoma Neuroectodermal Tumors Neuroectodermal Tumors, Primitive Neuroectodermal Tumors, Primitive, Peripheral Sarcoma, Ewing Nervous System Neoplasms Central Nervous System Neoplasms Pinealoma
HPO:Ependymoblastoma Ewing sarcoma Medulloblastoma Medulloepithelioma Neoplasm Neoplasm of the central nervous system Neoplasm of the nervous system Neuroectodermal neoplasm Peripheral primitive neuroectodermal neoplasm Pineal parenchymal cell neoplasm Pinealoma Pineoblastoma Pineocytoma Primitive neuroectodermal tumor Supratentorial neoplasm

Inclusion Criteria: - Medulloblastoma or PNET of childhood that has relapsed or become refractory to standard chemotherapy; patients with pineoblastoma are eligible - Patients must have had histologic verification of the malignancy at original diagnosis or at the time of recurrence - Patients must have clear residual disease, defined as tumor that is measurable in two perpendicular diameters on magnetic resonance imaging (MRI) OR diffuse leptomeningeal disease OR clear MRI evidence of disease that may not be measurable in two perpendicular diameters - All patients must have a brain MRI with and without gadolinium and a spine MRI with gadolinium performed within 2 weeks prior to study enrollment - Patients must have a Lansky or Karnofsky performance status score of >= 50%, corresponding to Eastern Cooperative Oncology Group (ECOG) categories of 0, 1, or 2 (use Karnofsky for patients > 16 years of age and Lansky for patients =< 16 years of age) - Patients must have a life expectancy of >= 8 weeks - Patients must have experienced at least one and at most two relapses prior to study enrollment; patients with primary refractory disease are eligible - Patients must have fully recovered from the acute toxic effects of all prior chemotherapy, immunotherapy, or radiotherapy prior to entering this study - Myelosuppressive chemotherapy: Must not have received within 3 weeks of entry onto this study (6 weeks if prior nitrosourea) - Biologic (anti-neoplastic agent): At least 7 days since the completion of therapy with a biologic agent; at least 3 weeks for biologic agents with a long half life, such as antibodies - External beam radiation therapy (XRT): Must not have received craniospinal radiotherapy within 24 weeks prior to study entry; the tumor designated as "measurable" for protocol purposes must not have received radiation within 12 weeks prior to study entry); focal radiation to areas of symptomatic metastatic disease must not be given within 14 days of study entry - Stem cell transplant (SCT): For autologous SCT, >= 3 months must have elapsed prior to study entry - Study specific limitations on prior therapy: - Patients must not have previously received bevacizumab, irinotecan, temozolomide or other anti-vascular endothelial growth factor (VEGF) inhibitor - Patients must not be taking enzyme-inducing antiepileptic medicines within 1 week of study entry - Patients must have recovered from any surgical procedure before enrolling on this study: - Patients with a major surgical procedure within 28 days prior to enrollment should be excluded - Patients with an intermediate surgical procedure within 14 days prior to enrollment should be excluded - For minor surgical procedures (including Broviac line or infusaport placement), patients should not receive the first planned dose of bevacizumab until the wound is healed and at least 7 days have elapsed - There should be no anticipation of need for major surgical procedures during the course of the study - Examples of major, intermediate, or minor surgical procedures: - Major procedures: Major craniotomy for tumor resection; organ resection; bowel wall anastomosis; arteriovenous grafts; exploratory laparotomy; thoracotomy - Intermediate procedures: Ventriculoperitoneal (VP)-shunt placement; stereotactic brain biopsy - Minor procedures: Incision and drainage of superficial skin abscesses; punch biopsy of skin lesions; superficial skin wound suturing; bone marrow aspirate and/or biopsy; fine needle aspirations; Broviac line or infusaport placement; paracentesis or thoracocentesis - Please note: Lumbar punctures or placement of peripherally inserted central catheter (PICC) lines are not considered minor procedures and may occur at any time prior to or during therapy - Hypertension must be well controlled (=< 95th percentile for age and height if patient is =< 17 years) on stable doses of medication - Concomitant medications restrictions: - Growth factor(s): Must not have received within 7 days of entry onto this study - Steroids: Patients who are receiving corticosteroids must be on a stable or decreasing dose for at least 7 days - Study Specific: Patients must not be currently taking nonsteroidal anti-inflammatory drugs (NSAIDs), clopidrogel, dipyridamole or aspirin therapy > 81 mg/day - Peripheral absolute neutrophil count (ANC) >= 1000/uL (must not have received filgrastim [G-CSF] within the prior 7 days) - Platelet count >= 100,000/uL (transfusion independent) - Hemoglobin >= 8.0 gm/dL (may receive packed red blood cell [PRBC] transfusions) - Creatinine clearance or radioisotope glomerular filtration rate (GFR) >= 70 mL/min OR a serum creatinine based on age/gender as follows: - =< 0.4 mg/dL (for patients aged 1 month to < 6 months) - =< 0.5 mg/dL (for patients aged 6 months to < 1 year) - =< 0.6 mg/dL (for patients aged 1 to < 2 years) - =< 0.8 mg/dL (for patients aged 2 to < 6 years) - =< 1 mg/dL (for patients aged 6 to < 10 years) - =< 1.2 mg/dL (for patients aged 10 to < 13 years) - =< 1.4 mg/dL (for female patients aged >= 13 years) - =< 1.5 mg/dL (for male patients aged 13 to < 16 years) - =< 1.7 mg/dL (for male patients aged >= 16 years) - Urine protein should be screened by dipstick analysis; if protein >= 2+ on dipstick, then urine protein creatinine (UPC) ratio should be calculated; if UPC ratio > 0.5, 24-hour urine protein should be obtained and the level should be < 1000 mg/24 hours for patient enrollment - Total bilirubin =< 1.5 x upper limit of normal (ULN) for age - Serum glutamate pyruvate transaminase (SGPT) (alanine aminotransferase [ALT]) =< 3 x upper limit of normal (ULN) for age - Central nervous system function defined as - Patients with a seizure disorder may be enrolled if well-controlled and on non-enzyme inducing anticonvulsants - Adequate coagulation defined as - International normalized ratio (INR)/prothrombin time (PT) =< 1.5 x upper limit of normal Exclusion Criteria: - Patients with a serious or non-healing wound, ulcer, or bone fracture are not eligible for this study - Patients must not have a history of abdominal fistula, gastrointestinal perforation or intra-abdominal abscess within 6 months prior to study entry - Patients must not have a known bleeding diathesis or coagulopathy - Patients must not have had significant vascular disease (eg, aortic aneurysm requiring surgical repair, deep venous or arterial thrombosis) within the last 6 months prior to study entry - Patients must not have a known thrombophilic condition (i.e. protein S, protein C or antithrombin III deficiency, Factor V Leiden, Factor II G20210A mutation, homocysteinemia or antiphospholipid antibody syndrome); testing is not required in patients without thrombophilic history - Patients must not have evidence of new CNS hemorrhage on baseline MRI obtained within 14 days prior to study enrollment - Patients with a history of stroke, myocardial infarction, transient ischemic attack (TIA), severe or unstable angina, peripheral vascular disease, or grade II or greater congestive heart failure within the past 6 months are not eligible - Patients must not have serious and inadequately controlled cardiac arrhythmia - Female patients who are pregnant are not eligible for this study - Female patients who are breastfeeding are not eligible for this study unless they agree not to breastfeed - Female patients of childbearing potential must have a negative pregnancy test - Sexually active patients of childbearing potential must agree to use an effective method of contraception during the study and for at least 6 months after the completion of bevacizumab therapy - Patients with known hypersensitivity to Chinese hamster ovary cell products or other recombinant human antibodies Inclusion Criteria: - Medulloblastoma or PNET of childhood that has relapsed or become refractory to standard chemotherapy; patients with pineoblastoma are eligible - Patients must have had histologic verification of the malignancy at original diagnosis or at the time of recurrence - Patients must have clear residual disease, defined as tumor that is measurable in two perpendicular diameters on magnetic resonance imaging (MRI) OR diffuse leptomeningeal disease OR clear MRI evidence of disease that may not be measurable in two perpendicular diameters - All patients must have a brain MRI with and without gadolinium and a spine MRI with gadolinium performed within 2 weeks prior to study enrollment - Patients must have a Lansky or Karnofsky performance status score of >= 50%, corresponding to Eastern Cooperative Oncology Group (ECOG) categories of 0, 1, or 2 (use Karnofsky for patients > 16 years of age and Lansky for patients =< 16 years of age) - Patients must have a life expectancy of >= 8 weeks - Patients must have experienced at least one and at most two relapses prior to study enrollment; patients with primary refractory disease are eligible - Patients must have fully recovered from the acute toxic effects of all prior chemotherapy, immunotherapy, or radiotherapy prior to entering this study - Myelosuppressive chemotherapy: Must not have received within 3 weeks of entry onto this study (6 weeks if prior nitrosourea) - Biologic (anti-neoplastic agent): At least 7 days since the completion of therapy with a biologic agent; at least 3 weeks for biologic agents with a long half life, such as antibodies - External beam radiation therapy (XRT): Must not have received craniospinal radiotherapy within 24 weeks prior to study entry; the tumor designated as "measurable" for protocol purposes must not have received radiation within 12 weeks prior to study entry); focal radiation to areas of symptomatic metastatic disease must not be given within 14 days of study entry - Stem cell transplant (SCT): For autologous SCT, >= 3 months must have elapsed prior to study entry - Study specific limitations on prior therapy: - Patients must not have previously received bevacizumab, irinotecan, temozolomide or other anti-vascular endothelial growth factor (VEGF) inhibitor - Patients must not be taking enzyme-inducing antiepileptic medicines within 1 week of study entry - Patients must have recovered from any surgical procedure before enrolling on this study: - Patients with a major surgical procedure within 28 days prior to enrollment should be excluded - Patients with an intermediate surgical procedure within 14 days prior to enrollment should be excluded - For minor surgical procedures (including Broviac line or infusaport placement), patients should not receive the first planned dose of bevacizumab until the wound is healed and at least 7 days have elapsed - There should be no anticipation of need for major surgical procedures during the course of the study - Examples of major, intermediate, or minor surgical procedures: - Major procedures: Major craniotomy for tumor resection; organ resection; bowel wall anastomosis; arteriovenous grafts; exploratory laparotomy; thoracotomy - Intermediate procedures: Ventriculoperitoneal (VP)-shunt placement; stereotactic brain biopsy - Minor procedures: Incision and drainage of superficial skin abscesses; punch biopsy of skin lesions; superficial skin wound suturing; bone marrow aspirate and/or biopsy; fine needle aspirations; Broviac line or infusaport placement; paracentesis or thoracocentesis - Please note: Lumbar punctures or placement of peripherally inserted central catheter (PICC) lines are not considered minor procedures and may occur at any time prior to or during therapy - Hypertension must be well controlled (=< 95th percentile for age and height if patient is =< 17 years) on stable doses of medication - Concomitant medications restrictions: - Growth factor(s): Must not have received within 7 days of entry onto this study - Steroids: Patients who are receiving corticosteroids must be on a stable or decreasing dose for at least 7 days - Study Specific: Patients must not be currently taking nonsteroidal anti-inflammatory drugs (NSAIDs), clopidrogel, dipyridamole or aspirin therapy > 81 mg/day - Peripheral absolute neutrophil count (ANC) >= 1000/uL (must not have received filgrastim [G-CSF] within the prior 7 days) - Platelet count >= 100,000/uL (transfusion independent) - Hemoglobin >= 8.0 gm/dL (may receive packed red blood cell [PRBC] transfusions) - Creatinine clearance or radioisotope glomerular filtration rate (GFR) >= 70 mL/min OR a serum creatinine based on age/gender as follows: - =< 0.4 mg/dL (for patients aged 1 month to < 6 months) - =< 0.5 mg/dL (for patients aged 6 months to < 1 year) - =< 0.6 mg/dL (for patients aged 1 to < 2 years) - =< 0.8 mg/dL (for patients aged 2 to < 6 years) - =< 1 mg/dL (for patients aged 6 to < 10 years) - =< 1.2 mg/dL (for patients aged 10 to < 13 years) - =< 1.4 mg/dL (for female patients aged >= 13 years) - =< 1.5 mg/dL (for male patients aged 13 to < 16 years) - =< 1.7 mg/dL (for male patients aged >= 16 years) - Urine protein should be screened by dipstick analysis; if protein >= 2+ on dipstick, then urine protein creatinine (UPC) ratio should be calculated; if UPC ratio > 0.5, 24-hour urine protein should be obtained and the level should be < 1000 mg/24 hours for patient enrollment - Total bilirubin =< 1.5 x upper limit of normal (ULN) for age - Serum glutamate pyruvate transaminase (SGPT) (alanine aminotransferase [ALT]) =< 3 x upper limit of normal (ULN) for age - Central nervous system function defined as - Patients with a seizure disorder may be enrolled if well-controlled and on non-enzyme inducing anticonvulsants - Adequate coagulation defined as - International normalized ratio (INR)/prothrombin time (PT) =< 1.5 x upper limit of normal Exclusion Criteria: - Patients with a serious or non-healing wound, ulcer, or bone fracture are not eligible for this study - Patients must not have a history of abdominal fistula, gastrointestinal perforation or intra-abdominal abscess within 6 months prior to study entry - Patients must not have a known bleeding diathesis or coagulopathy - Patients must not have had significant vascular disease (eg, aortic aneurysm requiring surgical repair, deep venous or arterial thrombosis) within the last 6 months prior to study entry - Patients must not have a known thrombophilic condition (i.e. protein S, protein C or antithrombin III deficiency, Factor V Leiden, Factor II G20210A mutation, homocysteinemia or antiphospholipid antibody syndrome); testing is not required in patients without thrombophilic history - Patients must not have evidence of new CNS hemorrhage on baseline MRI obtained within 14 days prior to study enrollment - Patients with a history of stroke, myocardial infarction, transient ischemic attack (TIA), severe or unstable angina, peripheral vascular disease, or grade II or greater congestive heart failure within the past 6 months are not eligible - Patients must not have serious and inadequately controlled cardiac arrhythmia - Female patients who are pregnant are not eligible for this study - Female patients who are breastfeeding are not eligible for this study unless they agree not to breastfeed - Female patients of childbearing potential must have a negative pregnancy test - Sexually active patients of childbearing potential must agree to use an effective method of contraception during the study and for at least 6 months after the completion of bevacizumab therapy - Patients with known hypersensitivity to Chinese hamster ovary cell products or other recombinant human antibodies Central Nervous System Neoplasm Pineoblastoma Recurrent Medulloblastoma Recurrent Primitive Neuroectodermal Tumor Refractory Medulloblastoma Refractory Peripheral Primitive Neuroectodermal Tumor Neoplasms Medulloblastoma Neuroectodermal Tumors Neuroectodermal Tumors, Primitive Neuroectodermal Tumors, Primitive, Peripheral Sarcoma, Ewing Nervous System Neoplasms Central Nervous System Neoplasms Pinealoma PRIMARY OBJECTIVES: l. --- G20210A ---

Inclusion Criteria: - Medulloblastoma or PNET of childhood that has relapsed or become refractory to standard chemotherapy; patients with pineoblastoma are eligible - Patients must have had histologic verification of the malignancy at original diagnosis or at the time of recurrence - Patients must have clear residual disease, defined as tumor that is measurable in two perpendicular diameters on magnetic resonance imaging (MRI) OR diffuse leptomeningeal disease OR clear MRI evidence of disease that may not be measurable in two perpendicular diameters - All patients must have a brain MRI with and without gadolinium and a spine MRI with gadolinium performed within 2 weeks prior to study enrollment - Patients must have a Lansky or Karnofsky performance status score of >= 50%, corresponding to Eastern Cooperative Oncology Group (ECOG) categories of 0, 1, or 2 (use Karnofsky for patients > 16 years of age and Lansky for patients =< 16 years of age) - Patients must have a life expectancy of >= 8 weeks - Patients must have experienced at least one and at most two relapses prior to study enrollment; patients with primary refractory disease are eligible - Patients must have fully recovered from the acute toxic effects of all prior chemotherapy, immunotherapy, or radiotherapy prior to entering this study - Myelosuppressive chemotherapy: Must not have received within 3 weeks of entry onto this study (6 weeks if prior nitrosourea) - Biologic (anti-neoplastic agent): At least 7 days since the completion of therapy with a biologic agent; at least 3 weeks for biologic agents with a long half life, such as antibodies - External beam radiation therapy (XRT): Must not have received craniospinal radiotherapy within 24 weeks prior to study entry; the tumor designated as "measurable" for protocol purposes must not have received radiation within 12 weeks prior to study entry); focal radiation to areas of symptomatic metastatic disease must not be given within 14 days of study entry - Stem cell transplant (SCT): For autologous SCT, >= 3 months must have elapsed prior to study entry - Study specific limitations on prior therapy: - Patients must not have previously received bevacizumab, irinotecan, temozolomide or other anti-vascular endothelial growth factor (VEGF) inhibitor - Patients must not be taking enzyme-inducing antiepileptic medicines within 1 week of study entry - Patients must have recovered from any surgical procedure before enrolling on this study: - Patients with a major surgical procedure within 28 days prior to enrollment should be excluded - Patients with an intermediate surgical procedure within 14 days prior to enrollment should be excluded - For minor surgical procedures (including Broviac line or infusaport placement), patients should not receive the first planned dose of bevacizumab until the wound is healed and at least 7 days have elapsed - There should be no anticipation of need for major surgical procedures during the course of the study - Examples of major, intermediate, or minor surgical procedures: - Major procedures: Major craniotomy for tumor resection; organ resection; bowel wall anastomosis; arteriovenous grafts; exploratory laparotomy; thoracotomy - Intermediate procedures: Ventriculoperitoneal (VP)-shunt placement; stereotactic brain biopsy - Minor procedures: Incision and drainage of superficial skin abscesses; punch biopsy of skin lesions; superficial skin wound suturing; bone marrow aspirate and/or biopsy; fine needle aspirations; Broviac line or infusaport placement; paracentesis or thoracocentesis - Please note: Lumbar punctures or placement of peripherally inserted central catheter (PICC) lines are not considered minor procedures and may occur at any time prior to or during therapy - Hypertension must be well controlled (=< 95th percentile for age and height if patient is =< 17 years) on stable doses of medication - Concomitant medications restrictions: - Growth factor(s): Must not have received within 7 days of entry onto this study - Steroids: Patients who are receiving corticosteroids must be on a stable or decreasing dose for at least 7 days - Study Specific: Patients must not be currently taking nonsteroidal anti-inflammatory drugs (NSAIDs), clopidrogel, dipyridamole or aspirin therapy > 81 mg/day - Peripheral absolute neutrophil count (ANC) >= 1000/uL (must not have received filgrastim [G-CSF] within the prior 7 days) - Platelet count >= 100,000/uL (transfusion independent) - Hemoglobin >= 8.0 gm/dL (may receive packed red blood cell [PRBC] transfusions) - Creatinine clearance or radioisotope glomerular filtration rate (GFR) >= 70 mL/min OR a serum creatinine based on age/gender as follows: - =< 0.4 mg/dL (for patients aged 1 month to < 6 months) - =< 0.5 mg/dL (for patients aged 6 months to < 1 year) - =< 0.6 mg/dL (for patients aged 1 to < 2 years) - =< 0.8 mg/dL (for patients aged 2 to < 6 years) - =< 1 mg/dL (for patients aged 6 to < 10 years) - =< 1.2 mg/dL (for patients aged 10 to < 13 years) - =< 1.4 mg/dL (for female patients aged >= 13 years) - =< 1.5 mg/dL (for male patients aged 13 to < 16 years) - =< 1.7 mg/dL (for male patients aged >= 16 years) - Urine protein should be screened by dipstick analysis; if protein >= 2+ on dipstick, then urine protein creatinine (UPC) ratio should be calculated; if UPC ratio > 0.5, 24-hour urine protein should be obtained and the level should be < 1000 mg/24 hours for patient enrollment - Total bilirubin =< 1.5 x upper limit of normal (ULN) for age - Serum glutamate pyruvate transaminase (SGPT) (alanine aminotransferase [ALT]) =< 3 x upper limit of normal (ULN) for age - Central nervous system function defined as - Patients with a seizure disorder may be enrolled if well-controlled and on non-enzyme inducing anticonvulsants - Adequate coagulation defined as - International normalized ratio (INR)/prothrombin time (PT) =< 1.5 x upper limit of normal Exclusion Criteria: - Patients with a serious or non-healing wound, ulcer, or bone fracture are not eligible for this study - Patients must not have a history of abdominal fistula, gastrointestinal perforation or intra-abdominal abscess within 6 months prior to study entry - Patients must not have a known bleeding diathesis or coagulopathy - Patients must not have had significant vascular disease (eg, aortic aneurysm requiring surgical repair, deep venous or arterial thrombosis) within the last 6 months prior to study entry - Patients must not have a known thrombophilic condition (i.e. protein S, protein C or antithrombin III deficiency, Factor V Leiden, Factor II G20210A mutation, homocysteinemia or antiphospholipid antibody syndrome); testing is not required in patients without thrombophilic history - Patients must not have evidence of new CNS hemorrhage on baseline MRI obtained within 14 days prior to study enrollment - Patients with a history of stroke, myocardial infarction, transient ischemic attack (TIA), severe or unstable angina, peripheral vascular disease, or grade II or greater congestive heart failure within the past 6 months are not eligible - Patients must not have serious and inadequately controlled cardiac arrhythmia - Female patients who are pregnant are not eligible for this study - Female patients who are breastfeeding are not eligible for this study unless they agree not to breastfeed - Female patients of childbearing potential must have a negative pregnancy test - Sexually active patients of childbearing potential must agree to use an effective method of contraception during the study and for at least 6 months after the completion of bevacizumab therapy - Patients with known hypersensitivity to Chinese hamster ovary cell products or other recombinant human antibodies Inclusion Criteria: - Medulloblastoma or PNET of childhood that has relapsed or become refractory to standard chemotherapy; patients with pineoblastoma are eligible - Patients must have had histologic verification of the malignancy at original diagnosis or at the time of recurrence - Patients must have clear residual disease, defined as tumor that is measurable in two perpendicular diameters on magnetic resonance imaging (MRI) OR diffuse leptomeningeal disease OR clear MRI evidence of disease that may not be measurable in two perpendicular diameters - All patients must have a brain MRI with and without gadolinium and a spine MRI with gadolinium performed within 2 weeks prior to study enrollment - Patients must have a Lansky or Karnofsky performance status score of >= 50%, corresponding to Eastern Cooperative Oncology Group (ECOG) categories of 0, 1, or 2 (use Karnofsky for patients > 16 years of age and Lansky for patients =< 16 years of age) - Patients must have a life expectancy of >= 8 weeks - Patients must have experienced at least one and at most two relapses prior to study enrollment; patients with primary refractory disease are eligible - Patients must have fully recovered from the acute toxic effects of all prior chemotherapy, immunotherapy, or radiotherapy prior to entering this study - Myelosuppressive chemotherapy: Must not have received within 3 weeks of entry onto this study (6 weeks if prior nitrosourea) - Biologic (anti-neoplastic agent): At least 7 days since the completion of therapy with a biologic agent; at least 3 weeks for biologic agents with a long half life, such as antibodies - External beam radiation therapy (XRT): Must not have received craniospinal radiotherapy within 24 weeks prior to study entry; the tumor designated as "measurable" for protocol purposes must not have received radiation within 12 weeks prior to study entry); focal radiation to areas of symptomatic metastatic disease must not be given within 14 days of study entry - Stem cell transplant (SCT): For autologous SCT, >= 3 months must have elapsed prior to study entry - Study specific limitations on prior therapy: - Patients must not have previously received bevacizumab, irinotecan, temozolomide or other anti-vascular endothelial growth factor (VEGF) inhibitor - Patients must not be taking enzyme-inducing antiepileptic medicines within 1 week of study entry - Patients must have recovered from any surgical procedure before enrolling on this study: - Patients with a major surgical procedure within 28 days prior to enrollment should be excluded - Patients with an intermediate surgical procedure within 14 days prior to enrollment should be excluded - For minor surgical procedures (including Broviac line or infusaport placement), patients should not receive the first planned dose of bevacizumab until the wound is healed and at least 7 days have elapsed - There should be no anticipation of need for major surgical procedures during the course of the study - Examples of major, intermediate, or minor surgical procedures: - Major procedures: Major craniotomy for tumor resection; organ resection; bowel wall anastomosis; arteriovenous grafts; exploratory laparotomy; thoracotomy - Intermediate procedures: Ventriculoperitoneal (VP)-shunt placement; stereotactic brain biopsy - Minor procedures: Incision and drainage of superficial skin abscesses; punch biopsy of skin lesions; superficial skin wound suturing; bone marrow aspirate and/or biopsy; fine needle aspirations; Broviac line or infusaport placement; paracentesis or thoracocentesis - Please note: Lumbar punctures or placement of peripherally inserted central catheter (PICC) lines are not considered minor procedures and may occur at any time prior to or during therapy - Hypertension must be well controlled (=< 95th percentile for age and height if patient is =< 17 years) on stable doses of medication - Concomitant medications restrictions: - Growth factor(s): Must not have received within 7 days of entry onto this study - Steroids: Patients who are receiving corticosteroids must be on a stable or decreasing dose for at least 7 days - Study Specific: Patients must not be currently taking nonsteroidal anti-inflammatory drugs (NSAIDs), clopidrogel, dipyridamole or aspirin therapy > 81 mg/day - Peripheral absolute neutrophil count (ANC) >= 1000/uL (must not have received filgrastim [G-CSF] within the prior 7 days) - Platelet count >= 100,000/uL (transfusion independent) - Hemoglobin >= 8.0 gm/dL (may receive packed red blood cell [PRBC] transfusions) - Creatinine clearance or radioisotope glomerular filtration rate (GFR) >= 70 mL/min OR a serum creatinine based on age/gender as follows: - =< 0.4 mg/dL (for patients aged 1 month to < 6 months) - =< 0.5 mg/dL (for patients aged 6 months to < 1 year) - =< 0.6 mg/dL (for patients aged 1 to < 2 years) - =< 0.8 mg/dL (for patients aged 2 to < 6 years) - =< 1 mg/dL (for patients aged 6 to < 10 years) - =< 1.2 mg/dL (for patients aged 10 to < 13 years) - =< 1.4 mg/dL (for female patients aged >= 13 years) - =< 1.5 mg/dL (for male patients aged 13 to < 16 years) - =< 1.7 mg/dL (for male patients aged >= 16 years) - Urine protein should be screened by dipstick analysis; if protein >= 2+ on dipstick, then urine protein creatinine (UPC) ratio should be calculated; if UPC ratio > 0.5, 24-hour urine protein should be obtained and the level should be < 1000 mg/24 hours for patient enrollment - Total bilirubin =< 1.5 x upper limit of normal (ULN) for age - Serum glutamate pyruvate transaminase (SGPT) (alanine aminotransferase [ALT]) =< 3 x upper limit of normal (ULN) for age - Central nervous system function defined as - Patients with a seizure disorder may be enrolled if well-controlled and on non-enzyme inducing anticonvulsants - Adequate coagulation defined as - International normalized ratio (INR)/prothrombin time (PT) =< 1.5 x upper limit of normal Exclusion Criteria: - Patients with a serious or non-healing wound, ulcer, or bone fracture are not eligible for this study - Patients must not have a history of abdominal fistula, gastrointestinal perforation or intra-abdominal abscess within 6 months prior to study entry - Patients must not have a known bleeding diathesis or coagulopathy - Patients must not have had significant vascular disease (eg, aortic aneurysm requiring surgical repair, deep venous or arterial thrombosis) within the last 6 months prior to study entry - Patients must not have a known thrombophilic condition (i.e. protein S, protein C or antithrombin III deficiency, Factor V Leiden, Factor II G20210A mutation, homocysteinemia or antiphospholipid antibody syndrome); testing is not required in patients without thrombophilic history - Patients must not have evidence of new CNS hemorrhage on baseline MRI obtained within 14 days prior to study enrollment - Patients with a history of stroke, myocardial infarction, transient ischemic attack (TIA), severe or unstable angina, peripheral vascular disease, or grade II or greater congestive heart failure within the past 6 months are not eligible - Patients must not have serious and inadequately controlled cardiac arrhythmia - Female patients who are pregnant are not eligible for this study - Female patients who are breastfeeding are not eligible for this study unless they agree not to breastfeed - Female patients of childbearing potential must have a negative pregnancy test - Sexually active patients of childbearing potential must agree to use an effective method of contraception during the study and for at least 6 months after the completion of bevacizumab therapy - Patients with known hypersensitivity to Chinese hamster ovary cell products or other recombinant human antibodies Central Nervous System Neoplasm Pineoblastoma Recurrent Medulloblastoma Recurrent Primitive Neuroectodermal Tumor Refractory Medulloblastoma Refractory Peripheral Primitive Neuroectodermal Tumor Neoplasms Medulloblastoma Neuroectodermal Tumors Neuroectodermal Tumors, Primitive Neuroectodermal Tumors, Primitive, Peripheral Sarcoma, Ewing Nervous System Neoplasms Central Nervous System Neoplasms Pinealoma PRIMARY OBJECTIVES: l. --- G20210A --- --- G20210A ---

Primary Outcomes

Description: Percentage Probability of remaining alive 5 years after enrollment estimated by the method of Kaplan and Meier

Measure: Overall Survival

Time: Up to 5 years after enrollment

Secondary Outcomes

Description: Patient's best response during protocol therapy coded as complete response, partial response or no response.

Measure: Response

Time: Up to 12 cycles of therapy (11 months)

Description: Percentage Probability of remaining event-free 5 years after enrollment estimated by the method of Kaplan and Meier

Measure: Event-free Survival

Time: Up to 5 years after enrollment

19 A Phase II Evaluation of BIBF 1120 in the Treatment of Recurrent or Persistent Endometrial Carcinoma

This phase II trial studies the side effects and how well nintedanib works in treating patients with endometrial cancer that has come back. Nintedanib may stop the growth of tumor cells by blocking some of the enzymes needed for cell growth or by blocking blood flow to the tumor.

NCT01225887
Conditions
  1. Endometrial Adenocarcinoma
  2. Endometrial Clear Cell Adenocarcinoma
  3. Endometrial Mucinous Adenocarcinoma
  4. Endometrial Serous Adenocarcinoma
  5. Endometrial Squamous Cell Carcinoma
  6. Endometrial Transitional Cell Carcinoma
  7. Endometrial Undifferentiated Carcinoma
  8. Malignant Uterine Corpus Mixed Epithelial a
  9. Malignant Uterine Corpus Mixed Epithelial and Mesenchymal Neoplasm
  10. Recurrent Uterine Corpus Carcinoma
Interventions
  1. Drug: Nintedanib
MeSH:Carcinoma Adenocarcinoma Carcinoma, Transitional Cell Cystadenocarcinoma, Serous Adenocarcinoma, Mucinous Cystadenocarcinoma Adenocarcinoma, Clear Cell
HPO:Carcinoma

the period of progression free survival for patients with persistent or recurrent endometrial cancer treated with study drug.. Inclusion Criteria: - Patients must have recurrent or persistent endometrial carcinoma, which is refractory to curative therapy or established treatments; histologic confirmation of the original primary tumor is required; patients with the following histologic epithelial cell types are eligible: endometrioid adenocarcinoma, serous adenocarcinoma, undifferentiated carcinoma, clear cell adenocarcinoma, mixed epithelial carcinoma, adenocarcinoma not otherwise specified (N.O.S.), mucinous adenocarcinoma, squamous cell carcinoma, and transitional cell carcinoma - All patients must have measurable disease as defined by Response Evaluation Criteria in Solid Tumors (RECIST) 1.1; measurable disease is defined as at least one lesion that can be accurately measured in at least one dimension (longest diameter to be recorded); each lesion must be >= 10 mm when measured by computed tomography (CT), magnetic resonance imaging (MRI) or caliper measurement by clinical exam; or >= 20 mm when measured by chest x-ray; lymph nodes must be >= 15 mm in short axis when measured by CT or MRI - Patient must have at least one "target lesion" to be used to assess response on this protocol as defined by RECIST 1.1; tumors within a previously irradiated field will be designated as "non-target" lesions unless progression is documented or a biopsy is obtained to confirm persistence at least 90 days following completion of radiation therapy - Patients must not be eligible for a higher priority Gynecologic Oncology Group (GOG) protocol, if one exists; in general, this would refer to any active GOG Phase III protocol or Rare Tumor protocol for the same patient population - Patients must have a GOG performance status of 0, 1, or 2 - Patients must have normal thyroid function; patients with a history of hypothyroidism are eligible, provided it is well controlled on medication - Recovery from effects of recent surgery, radiotherapy, or chemotherapy - Patients should be free of active infection requiring antibiotics (with the exception of uncomplicated urinary tract infection) - Any hormonal therapy directed at the malignant tumor must be discontinued at least one week prior to registration - Any other prior therapy directed at the malignant tumor, including chemotherapy and immunologic agents, must be discontinued at least three weeks prior to registration - Any prior radiation therapy must be completed at least 4 weeks prior to registration - Patients must have had one prior chemotherapeutic regimen for management of endometrial carcinoma; chemotherapy administered in conjunction with primary radiation as a radio-sensitizer will be counted as a systemic chemotherapy regimen - Patients are allowed to receive, but are not required to receive, one additional cytotoxic regimen for management of recurrent or persistent disease - Patients must have NOT received any non-cytotoxic (biologic or targeted) agents, as part of their primary treatment or for management of recurrent or persistent disease; non-cytotoxic (biologic or targeted) agents include (but are not limited to) monoclonal antibodies, cytokines, and small-molecule inhibitors of signal transduction; prior hormonal therapy is allowed; there is no limit on the number of prior hormonal therapies allowed - Absolute neutrophil count (ANC) greater than or equal to 1,500/mcl - Platelets greater than or equal to 100,000/mcl - Creatinine less than or equal to 1.5 x institutional upper limit normal (ULN) - Urine protein creatinine (UPC) ratio must be < 1.0 gm; if UPC ratio >= 1, collection of 24-hour urine measurement of urine protein is recommended - Bilirubin must be less than 1.5 X ULN - Aspartate aminotransferase (AST) and alanine aminotransferase (ALT) must be less than 3 X ULN - Alkaline phosphatase must be less than 2.5 X ULN - Prothrombin time (PT) such that international normalized ratio (INR) is =< 1.5 x ULN (or an in-range INR, usually between 2 and 3, if a patient is on a stable dose of therapeutic warfarin) and a partial thromboplastin time (PTT) =< 1.5 times the institutional upper limit of normal - Electrocardiogram (EKG) must have corrected QT interval (QTc) < 450 msec without evidence of serious ventricular arrhythmia (ventricular tachycardia lasting more than 3 beats or ventricular fibrillation) - Patients must have signed an approved informed consent and authorization permitting release of personal health information - Patients must meet pre-entry requirements - Patients of childbearing potential must have a negative serum pregnancy test prior to the study entry; women of child-bearing potential must agree to use adequate contraception (two barrier methods of birth control) prior to study entry and for the duration of study participation; should a woman become pregnant or suspect she is pregnant while participating in this study, she is to inform her treating physician immediately; all patients must be willing to take contraception up to three months after the final dose of BIBF 1120 Exclusion Criteria: - Patients who have had prior therapy with BIBF 1120 - Patients with a history of other invasive malignancies, with the exception of non-melanoma skin cancer and other specific malignancies, are excluded if there is any evidence of other malignancy being present within the last three years; patients are also excluded if their previous cancer treatment contraindicates this protocol therapy - Patients who have received prior radiotherapy to any portion of the abdominal cavity or pelvis OTHER THAN for the treatment of endometrial cancer within the last three years are excluded; prior radiation for localized cancer of the breast, head and neck, or skin is permitted, provided that it was completed more than three years prior to registration, and the patient remains free of recurrent or metastatic disease - Patients who have received prior chemotherapy for any abdominal or pelvic tumor OTHER THAN for the treatment of endometrial cancer within the last three years are excluded; patients may have received prior adjuvant chemotherapy for localized breast cancer, provided that it was completed more than three years prior to registration, and that the patient remains free of recurrent or metastatic disease - Patients with serious, non-healing wound, ulcer, or bone fracture; this includes history of abdominal fistula, gastrointestinal perforation or intra-abdominal abscess within 28 days prior to the start date of treatment; patients with underlying lesions that caused the fistula or perforation in the past that have not been corrected - Patients with active bleeding or pathologic conditions that carry high risk of bleeding, such as known bleeding disorder, coagulopathy, or tumor involving major vessels - Patients with history of brain metastases, or evidence upon physical examination of active central nervous system (CNS) disease, including primary brain tumor, seizures not controlled with standard medical therapy or any brain metastases - Uncontrolled hypertension, defined as systolic >= 150 mm Hg or diastolic >= 90 mm Hg - Myocardial infarction or unstable angina within 6 months of study treatment - New York Heart Association (NYHA) class II or greater congestive heart failure - Women with an ejection fraction < institutional lower limit of normal (LLN) - History of serious ventricular arrhythmia (i.e., ventricular tachycardia or ventricular fibrillation) or cardiac arrhythmias requiring anti-arrhythmic medications (except for atrial fibrillation that is well controlled with anti-arrhythmic medication) - Common Terminology Criteria for Adverse Events (CTCAE) grade 2 or greater peripheral vascular disease - History of cerebrovascular accident (CVA, stroke), transient ischemic attack (TIA) or subarachnoid hemorrhage within six months of study treatment - Patients undergoing invasive procedures as defined below: major surgical procedure, open biopsy or significant traumatic injury within 28 days prior to the first date of treatment; major surgical procedure anticipated during the course of the study; minor surgical procedures, fine needle aspirates, or core biopsies within 7 days prior to the first date of therapy - Patients who are pregnant or nursing - Patients with a history of major thromboembolic event defined as: symptomatic pulmonary embolism (PE), recurrent asymptomatic PE, or recurrent deep venous thrombosis - Prior thrombosis or thromboembolic event due to a known inherited coagulopathy (i.e., antithrombin-III deficiency, protein C or protein S deficiency, factor V Leiden mutation presence, prothrombin G20210A mutation) - Serious infections requiring systemic antibiotics or antiviral therapy including: known active hepatitis B or C infection; known human immunodeficiency virus (HIV) infection - Gastrointestinal (GI) or other medical disorders that would impact ingestion or absorption of the drug - Patients with a history of photosensitivity or who must take agents which increase photosensitivity, e.g. --- G20210A ---

topical retinoids and doxycycline - Patients who are unable to swallow capsules Inclusion Criteria: - Patients must have recurrent or persistent endometrial carcinoma, which is refractory to curative therapy or established treatments; histologic confirmation of the original primary tumor is required; patients with the following histologic epithelial cell types are eligible: endometrioid adenocarcinoma, serous adenocarcinoma, undifferentiated carcinoma, clear cell adenocarcinoma, mixed epithelial carcinoma, adenocarcinoma not otherwise specified (N.O.S.), mucinous adenocarcinoma, squamous cell carcinoma, and transitional cell carcinoma - All patients must have measurable disease as defined by Response Evaluation Criteria in Solid Tumors (RECIST) 1.1; measurable disease is defined as at least one lesion that can be accurately measured in at least one dimension (longest diameter to be recorded); each lesion must be >= 10 mm when measured by computed tomography (CT), magnetic resonance imaging (MRI) or caliper measurement by clinical exam; or >= 20 mm when measured by chest x-ray; lymph nodes must be >= 15 mm in short axis when measured by CT or MRI - Patient must have at least one "target lesion" to be used to assess response on this protocol as defined by RECIST 1.1; tumors within a previously irradiated field will be designated as "non-target" lesions unless progression is documented or a biopsy is obtained to confirm persistence at least 90 days following completion of radiation therapy - Patients must not be eligible for a higher priority Gynecologic Oncology Group (GOG) protocol, if one exists; in general, this would refer to any active GOG Phase III protocol or Rare Tumor protocol for the same patient population - Patients must have a GOG performance status of 0, 1, or 2 - Patients must have normal thyroid function; patients with a history of hypothyroidism are eligible, provided it is well controlled on medication - Recovery from effects of recent surgery, radiotherapy, or chemotherapy - Patients should be free of active infection requiring antibiotics (with the exception of uncomplicated urinary tract infection) - Any hormonal therapy directed at the malignant tumor must be discontinued at least one week prior to registration - Any other prior therapy directed at the malignant tumor, including chemotherapy and immunologic agents, must be discontinued at least three weeks prior to registration - Any prior radiation therapy must be completed at least 4 weeks prior to registration - Patients must have had one prior chemotherapeutic regimen for management of endometrial carcinoma; chemotherapy administered in conjunction with primary radiation as a radio-sensitizer will be counted as a systemic chemotherapy regimen - Patients are allowed to receive, but are not required to receive, one additional cytotoxic regimen for management of recurrent or persistent disease - Patients must have NOT received any non-cytotoxic (biologic or targeted) agents, as part of their primary treatment or for management of recurrent or persistent disease; non-cytotoxic (biologic or targeted) agents include (but are not limited to) monoclonal antibodies, cytokines, and small-molecule inhibitors of signal transduction; prior hormonal therapy is allowed; there is no limit on the number of prior hormonal therapies allowed - Absolute neutrophil count (ANC) greater than or equal to 1,500/mcl - Platelets greater than or equal to 100,000/mcl - Creatinine less than or equal to 1.5 x institutional upper limit normal (ULN) - Urine protein creatinine (UPC) ratio must be < 1.0 gm; if UPC ratio >= 1, collection of 24-hour urine measurement of urine protein is recommended - Bilirubin must be less than 1.5 X ULN - Aspartate aminotransferase (AST) and alanine aminotransferase (ALT) must be less than 3 X ULN - Alkaline phosphatase must be less than 2.5 X ULN - Prothrombin time (PT) such that international normalized ratio (INR) is =< 1.5 x ULN (or an in-range INR, usually between 2 and 3, if a patient is on a stable dose of therapeutic warfarin) and a partial thromboplastin time (PTT) =< 1.5 times the institutional upper limit of normal - Electrocardiogram (EKG) must have corrected QT interval (QTc) < 450 msec without evidence of serious ventricular arrhythmia (ventricular tachycardia lasting more than 3 beats or ventricular fibrillation) - Patients must have signed an approved informed consent and authorization permitting release of personal health information - Patients must meet pre-entry requirements - Patients of childbearing potential must have a negative serum pregnancy test prior to the study entry; women of child-bearing potential must agree to use adequate contraception (two barrier methods of birth control) prior to study entry and for the duration of study participation; should a woman become pregnant or suspect she is pregnant while participating in this study, she is to inform her treating physician immediately; all patients must be willing to take contraception up to three months after the final dose of BIBF 1120 Exclusion Criteria: - Patients who have had prior therapy with BIBF 1120 - Patients with a history of other invasive malignancies, with the exception of non-melanoma skin cancer and other specific malignancies, are excluded if there is any evidence of other malignancy being present within the last three years; patients are also excluded if their previous cancer treatment contraindicates this protocol therapy - Patients who have received prior radiotherapy to any portion of the abdominal cavity or pelvis OTHER THAN for the treatment of endometrial cancer within the last three years are excluded; prior radiation for localized cancer of the breast, head and neck, or skin is permitted, provided that it was completed more than three years prior to registration, and the patient remains free of recurrent or metastatic disease - Patients who have received prior chemotherapy for any abdominal or pelvic tumor OTHER THAN for the treatment of endometrial cancer within the last three years are excluded; patients may have received prior adjuvant chemotherapy for localized breast cancer, provided that it was completed more than three years prior to registration, and that the patient remains free of recurrent or metastatic disease - Patients with serious, non-healing wound, ulcer, or bone fracture; this includes history of abdominal fistula, gastrointestinal perforation or intra-abdominal abscess within 28 days prior to the start date of treatment; patients with underlying lesions that caused the fistula or perforation in the past that have not been corrected - Patients with active bleeding or pathologic conditions that carry high risk of bleeding, such as known bleeding disorder, coagulopathy, or tumor involving major vessels - Patients with history of brain metastases, or evidence upon physical examination of active central nervous system (CNS) disease, including primary brain tumor, seizures not controlled with standard medical therapy or any brain metastases - Uncontrolled hypertension, defined as systolic >= 150 mm Hg or diastolic >= 90 mm Hg - Myocardial infarction or unstable angina within 6 months of study treatment - New York Heart Association (NYHA) class II or greater congestive heart failure - Women with an ejection fraction < institutional lower limit of normal (LLN) - History of serious ventricular arrhythmia (i.e., ventricular tachycardia or ventricular fibrillation) or cardiac arrhythmias requiring anti-arrhythmic medications (except for atrial fibrillation that is well controlled with anti-arrhythmic medication) - Common Terminology Criteria for Adverse Events (CTCAE) grade 2 or greater peripheral vascular disease - History of cerebrovascular accident (CVA, stroke), transient ischemic attack (TIA) or subarachnoid hemorrhage within six months of study treatment - Patients undergoing invasive procedures as defined below: major surgical procedure, open biopsy or significant traumatic injury within 28 days prior to the first date of treatment; major surgical procedure anticipated during the course of the study; minor surgical procedures, fine needle aspirates, or core biopsies within 7 days prior to the first date of therapy - Patients who are pregnant or nursing - Patients with a history of major thromboembolic event defined as: symptomatic pulmonary embolism (PE), recurrent asymptomatic PE, or recurrent deep venous thrombosis - Prior thrombosis or thromboembolic event due to a known inherited coagulopathy (i.e., antithrombin-III deficiency, protein C or protein S deficiency, factor V Leiden mutation presence, prothrombin G20210A mutation) - Serious infections requiring systemic antibiotics or antiviral therapy including: known active hepatitis B or C infection; known human immunodeficiency virus (HIV) infection - Gastrointestinal (GI) or other medical disorders that would impact ingestion or absorption of the drug - Patients with a history of photosensitivity or who must take agents which increase photosensitivity, e.g. --- G20210A ---

Primary Outcomes

Description: The incidence of adverse events (grade 3 or higher) as assessed by the National Cancer Institute CTCAE version 4.0

Measure: Number of Participants With Adverse Events

Time: Up to 5 years

Description: Complete and Partial Tumor Response by RECIST 1.1

Measure: Objective Tumor Response

Time: For disease that can be evaluated by physical exam,response was assessed prior to each cycle CT scan or MRI if used to follow lesion for measurable disease every other cycle up to 5 years.

Description: Whether or not the patient survived progression-free for at least 6 months.

Measure: Progression-free Survival > 6 Months

Time: for disease that can be evaluated by physical exam, progression was assessed prior to each cycle. CT scan or MRI if used to follow lesion for measurable disease every other cycle up to 5 years.

Secondary Outcomes

Description: The observed length of life from entry into the study to death or the date of last contact.

Measure: Overall Survival

Time: From study entry to death or last contact, up to 5 years

Description: the period of progression free survival for patients with persistent or recurrent endometrial cancer treated with study drug.

Measure: Progression Free Survival

Time: The duration of time from study entry to time of progression or death, whichever occurs first, assessed up to 5 years

20 Prospective Study Assessing the Need for Antepartum Thromboprophylaxis in Pregnant Women With One Prior Episode of Venous Thromboembolism

Pregnant women with a prior history of venous thromboembolism (VTE) are at increased risk of recurrent VTE. Current guidelines assessing the role of prophylaxis in pregnant women with prior VTE are based primarily on expert opinion and the optimal clinical management strategy remains unclear. This multicentre, prospective cohort study aims to test the following hypotheses: 1. Antepartum prophylaxis with fixed-dose low molecular-weight heparin (LMWH) is safe, convenient and associated with an acceptably low risk of recurrent VTE in women with a single prior episode of VTE that was either unprovoked or associated with a minor transient risk factor. (Moderate risk cohort) 2. Withholding antepartum prophylaxis is safe (recurrence risk <1%) in pregnant women with a single prior episode of VTE provoked by a major transient risk factor. (Low risk cohort) All study patients will receive 6 weeks of postpartum prophylaxis.

NCT01357941
Conditions
  1. Venous Thromboembolism
  2. Deep Vein Thrombosis
  3. Pulmonary Embolism
MeSH:Pulmonary Embolism Thrombosis Thromboembolism Embolism Venous Thromboembolism Venous Thrombosis
HPO:Deep venous thrombosis Pulmonary embolism Thromboembolism Venous thrombosis

Inclusion Criteria: - Confirmed pregnancy (positive serum or urine) - At least 18 years of age - History of one prior episode of VTE consisting of DVT (diagnosed by compression ultrasonography [CUS] or venography) and/or PE (diagnosed by ventilation-perfusion [V/Q] lung scintigraphy, computed tomographic pulmonary angiography [CTPA], or traditional pulmonary angiography) Exclusion Criteria: - Ongoing need for therapeutic anticoagulation for prevention or treatment of cardioembolic stroke - Known high-risk thrombophilia (specifically antithrombin deficiency, protein S deficiency, protein C deficiency, homozygosity for the factor V Leiden or prothrombin G20210A mutations, antiphospholipid antibody or compound abnormalities) - VTE within 3 months of the current pregnancy - Clinical risk factor for initial episode of VTE, if present, not resolved (excluding pregnancy) - Known contraindication to anticoagulation (including active, uncontrolled bleeding or major bleed within the previous 4 weeks) - For patients with prior unprovoked VTE, contraindication to LMWH (including allergy, HIT, impaired renal function, osteoporosis) - Geographic or social factors precluding follow-up - Inability or unwillingness to provide informed consent Inclusion Criteria: - Confirmed pregnancy (positive serum or urine) - At least 18 years of age - History of one prior episode of VTE consisting of DVT (diagnosed by compression ultrasonography [CUS] or venography) and/or PE (diagnosed by ventilation-perfusion [V/Q] lung scintigraphy, computed tomographic pulmonary angiography [CTPA], or traditional pulmonary angiography) Exclusion Criteria: - Ongoing need for therapeutic anticoagulation for prevention or treatment of cardioembolic stroke - Known high-risk thrombophilia (specifically antithrombin deficiency, protein S deficiency, protein C deficiency, homozygosity for the factor V Leiden or prothrombin G20210A mutations, antiphospholipid antibody or compound abnormalities) - VTE within 3 months of the current pregnancy - Clinical risk factor for initial episode of VTE, if present, not resolved (excluding pregnancy) - Known contraindication to anticoagulation (including active, uncontrolled bleeding or major bleed within the previous 4 weeks) - For patients with prior unprovoked VTE, contraindication to LMWH (including allergy, HIT, impaired renal function, osteoporosis) - Geographic or social factors precluding follow-up - Inability or unwillingness to provide informed consent Venous Thromboembolism Deep Vein Thrombosis Pulmonary Embolism Pulmonary Embolism Thrombosis Thromboembolism Embolism Venous Thromboembolism Venous Thrombosis null --- G20210A ---

Inclusion Criteria: - Confirmed pregnancy (positive serum or urine) - At least 18 years of age - History of one prior episode of VTE consisting of DVT (diagnosed by compression ultrasonography [CUS] or venography) and/or PE (diagnosed by ventilation-perfusion [V/Q] lung scintigraphy, computed tomographic pulmonary angiography [CTPA], or traditional pulmonary angiography) Exclusion Criteria: - Ongoing need for therapeutic anticoagulation for prevention or treatment of cardioembolic stroke - Known high-risk thrombophilia (specifically antithrombin deficiency, protein S deficiency, protein C deficiency, homozygosity for the factor V Leiden or prothrombin G20210A mutations, antiphospholipid antibody or compound abnormalities) - VTE within 3 months of the current pregnancy - Clinical risk factor for initial episode of VTE, if present, not resolved (excluding pregnancy) - Known contraindication to anticoagulation (including active, uncontrolled bleeding or major bleed within the previous 4 weeks) - For patients with prior unprovoked VTE, contraindication to LMWH (including allergy, HIT, impaired renal function, osteoporosis) - Geographic or social factors precluding follow-up - Inability or unwillingness to provide informed consent Inclusion Criteria: - Confirmed pregnancy (positive serum or urine) - At least 18 years of age - History of one prior episode of VTE consisting of DVT (diagnosed by compression ultrasonography [CUS] or venography) and/or PE (diagnosed by ventilation-perfusion [V/Q] lung scintigraphy, computed tomographic pulmonary angiography [CTPA], or traditional pulmonary angiography) Exclusion Criteria: - Ongoing need for therapeutic anticoagulation for prevention or treatment of cardioembolic stroke - Known high-risk thrombophilia (specifically antithrombin deficiency, protein S deficiency, protein C deficiency, homozygosity for the factor V Leiden or prothrombin G20210A mutations, antiphospholipid antibody or compound abnormalities) - VTE within 3 months of the current pregnancy - Clinical risk factor for initial episode of VTE, if present, not resolved (excluding pregnancy) - Known contraindication to anticoagulation (including active, uncontrolled bleeding or major bleed within the previous 4 weeks) - For patients with prior unprovoked VTE, contraindication to LMWH (including allergy, HIT, impaired renal function, osteoporosis) - Geographic or social factors precluding follow-up - Inability or unwillingness to provide informed consent Venous Thromboembolism Deep Vein Thrombosis Pulmonary Embolism Pulmonary Embolism Thrombosis Thromboembolism Embolism Venous Thromboembolism Venous Thrombosis null --- G20210A --- --- G20210A ---

Primary Outcomes

Description: Symptomatic objectively confirmed recurrent VTE, including proximal DVT, non-fatal PE, and fatal PE during antepartum period

Measure: Symptomatic venous thromboembolism

Time: antepartum period (expected average 7 months)

Secondary Outcomes

Description: Symptomatic recurrent VTE antepartum and within first 3 months postpartum

Measure: Symptomatic recurrent venous thromboembolism

Time: antepartum period (expected average 7 months) and first 3 months postpartum

Description: Symptomatic objectively confirmed recurrent PE antepartum and within first 3 months postpartum

Measure: Symptomatic recurrent pulmonary embolism

Time: antepartum period (expected average 7 months) and first 3 months postpartum

Description: Thrombocytopenia or HIT during antepartum period

Measure: Thrombocytopenia or heparin-induced thrombocytopenia (HIT)

Time: antepartum period (expected average 7 months)

Description: Symptomatic osteoporosis antepartum and within first 3 months postpartum

Measure: Symptomatic osteoporosis

Time: antepartum period (expected average 7 months) and first 3 months postpartum

Description: Other complications sufficient to stop treatment (e.g., local and systemic reactions) antepartum and within first 3 months postpartum

Measure: Other complications

Time: antepartum (expected average 7 months) and within first 3 months postpartum

Description: Pregnancy complications and outcomes including fetal death, pre-eclampsia, toxemia, intrauterine growth restriction, prematurity during antepartum period

Measure: Pregnancy complications and outcomes

Time: antepartum period (expected average 7 months)

Description: Fetal anomalies

Measure: Fetal anomalies

Time: antepartum (expected average 7 months) and during first 3 months postpartum

Description: Major and minor bleeding

Measure: Major and minor bleeding

Time: antepartum (expected average 7 months)

21 Thrombophilic Risk Factors in Preterm and Infants Treated at Ha'Emek Medical Center Between the Years 1990 to 2010

There are several factor that can be related to Neonatal Thrombotic events. Among them hypercoagulability can be the cause of those events. Factor V Leiden (FVL) and Prothrombin mutation are the most common causes of hereditary thrombophilia. The incidence of in the arab population is known to be higher than the incidence in another western populations. The purpose of this study is to review retrospectively the thrombophilic risk factors that were found in a cohort of premature babies and term newborns treated and investigated at the Neonatal Intensive Care Unit and at the Pediatric Hematology Unit.

NCT01443273
Conditions
  1. Premature
  2. Thrombosis
Interventions
  1. Other: Medical Records study
MeSH:Thrombosis

Also the three common genetic factors are analysed including Factor F Leiden (G1691A), Prothrombin Mutation (G20210A) and MTHFR polymorphism (C677T). --- G1691A --- --- G20210A ---

Primary Outcomes

Description: Recruitment of all premature and term infants born at Emek Medical Center and suffer from thrombotic events.

Measure: The frequency of thrombophilic risk factors in preterms and infants

Time: One year

22 Prevalence of Clinical and Laboratory Markers of Hypofibrinolysis in Psychotic Patients

At the Thrombophilia Clinic of the Hospital Federal dos Servidores do Estado do Rio de Janeiro there is a high prevalence of acute psychotic episodes, which allows the investigators to raise the suspicion that the thrombotic tendency or hypofibrinolysis play a role in the onset of the disease. It is striking that most of these patients, after some time on anticoagulants, no longer need to take psychiatric medication.

NCT01487291
Conditions
  1. Insulin Resistance
  2. Thrombophilia
  3. Psychosis
MeSH:Thrombophilia Insulin Resistance
HPO:Hypercoagulability Insulin resistance

This study intents to investigate the prevalence of hypofibrinolysis markers, such as PAI-1 4G/5G and 4G/4G, protein S deficiency, antiphospholipid antibodies and prothrombin G20210A, in psychotic patients. --- G20210A ---

Primary Outcomes

Description: The investigators' hypothesis is that a high prevalence of hypofibrinolysis markers will be probably found in psychotic patients.

Measure: Prevalence of hypofibrinolysis markers in psychotic patients

Time: One year

Secondary Outcomes

Description: The investigators are assessing clinical and laboratory markers of plasminogen activator imbalance in psychiatric patients who require electroconvulsive therapy, specifically patients with major depressive disorders and schizophrenia.

Measure: Prevalence of Clinical and Laboratory Markers of Hypofibrinolysis in Patients who Need Electroconvulsive Therapy

Time: 2013-2014

23 Effectiveness of Aspirin in Compare With Heparin Plus Aspirin in Recurrent Pregnancy Loss Treatment

This study evaluated the effect of anticoagulant treatment on the live-birth rate in women with a history of at least two continuous unexplained miscarriages or thrombophilia. It also compared two methods of treatment with aspirin and aspirin plus heparin.

NCT01542411
Conditions
  1. Recurrent Pregnancy Loss
MeSH:Abortion, Habitual

Inclusion Criteria: - unexplained recurrent miscarriage, - women had previous venous or arterial thromboembolism or who were heterozygous or homozygous for mutations for FV Leiden G1691A, prothrombin gene G20210A (FII G20210A), and methyltetrahydrofolate reductase C677T (MTHFR C677T) Exclusion Criteria: - abnormal karyotypes of both partners, - uterine and cervical anatomical disorders on pelvic ultrasonography or hysteroscopy, - abnormal ovaries and abnormal endocrine tests. --- G1691A --- --- G20210A ---

Inclusion Criteria: - unexplained recurrent miscarriage, - women had previous venous or arterial thromboembolism or who were heterozygous or homozygous for mutations for FV Leiden G1691A, prothrombin gene G20210A (FII G20210A), and methyltetrahydrofolate reductase C677T (MTHFR C677T) Exclusion Criteria: - abnormal karyotypes of both partners, - uterine and cervical anatomical disorders on pelvic ultrasonography or hysteroscopy, - abnormal ovaries and abnormal endocrine tests. --- G1691A --- --- G20210A --- --- G20210A ---


24 Randomized Double Blind Placebo-controlled Phase II Trial of Vargatef® (Nintedanib) in Addition to First Line Chemotherapy With Interval Debulking Surgery in Patients With Adenocarcinoma of the Ovary, the Fallopian Tube or Serous Adenocarcinoma of the Peritoneum

Patients with extensive and bulky disease are often those whose initial surgery is delayed after 3 or 4 cycles of neo-adjuvant chemotherapy. In that case, there is, indeed, some concern to administer bevacizumab during the chemotherapy surrounding the interval debulking surgery due to the long half life (14- 21 days) of this monoclonal antibody and the interference of anti angiogenic agents with wound healing. Vargatef® (Nintedanib) might offer a better alternative to bevacizumab in the neo-adjuvant setting. Vargatef® (Nintedanib) has a much shorter half-life of 7 to 19 hours. Preliminary experience in cancer did not show a trend for increased incidence of fistula or bowel perforation. For more details please refer to the investigator drug brochure for Vargatef® (Nintedanib). This trial will compare progression-free survival and surgical complications of 188 patients with FIGO stage IIIC/IV treated in first line with either neo-adjuvant chemotherapy (carboplatin & paclitaxel) and interval debulking surgery or the same treatment + Vargatef® (Nintedanib).

NCT01583322
Conditions
  1. Ovarian Cancer
Interventions
  1. Drug: vargatef
  2. Drug: placebo
MeSH:Ovarian Neoplasms Carcinoma, Ovarian Epithelial
HPO:Ovarian neoplasm

germ cell tumour, malignant mixed mullerian tumour, sex cord-stromal tumour) of the ovary, the fallopian tube or peritoneum or borderline tumour of the ovary (tumour of low malignant potential), - Non-healing wound, ulcer (intestinal tract, skin) or bone fracture, - Clinical symptoms or signs of gastrointestinal obstruction, - History of major thromboembolic event, defined as: - Pulmonary embolism (PE) within 6 months prior to enrolment, - Recurrent pulmonary embolism (history of at least 2 events), - History of at least 2 unprovoked (without a transient or reversible risk factor) events of proximal deep venous thrombosis, - Prior thrombosis or thromboembolic event in the presence of an inherited coagulopathy (including deficiency of antithrombin, deficiency of protein C or protein S, Factor V Leiden mutation, Prothrombin G20210A mutation), - Patients with perioperative thrombosis including proximal deep vein thrombosis (DVT) or thrombosis of visceral vessels not associated with pulmonary embolism may be included in the trial if stable therapeutic anticoagulation is documented, - Known inherited or acquired bleeding disorder, - Significant cardiovascular diseases, including: - Hypertension not controlled by medical therapy, - Unstable angina within the past 6 months, - History of myocardial infarction within the past 6 months, - Congestive heart failure > NYHA II, - Clinically relevant cardiac arrhythmia - Peripheral vascular disease Fontaine stage ≥3, - Clinically relevant pericardial effusion (e.g. --- G20210A ---

Primary Outcomes

Measure: Median Progression-free Survival (PFS) in each study arm

Time: average of 18 months

Secondary Outcomes

Measure: Response rate

Time: 2 months after beginning of treatment

25 Fixed-dose vs. Phenotype-based PrAsugrel Dose to MATCH Therapeutic Zone in Asians With Acute Coronary Syndrome

The purpose of this study is to determine whether the fixed-dose (prasugrel 10 mg/d vs. 5 mg/d) vs. phenotype (platlet function test by VerifyNow P2Y12 assay)-based prasugrel dose adjustment can match therapeutic zone of platelet reactivity in PCI-treated Asians with acute coronary syndrome

NCT01951001
Conditions
  1. Acute Coronary Syndrome
  2. Platelet Thrombus
  3. Bleeding
Interventions
  1. Drug: Prasugrel
MeSH:Acute Coronary Syndrome Syndrome

The convincing associations of arterial thrombosis to coagulation system and inflammation have been repeatedly demonstrated in multiple clinical trials: fibrinogen, factor V Leiden (G1691A) and prothrombin G20210A gene mutations, high-sensitivity C-reactive protein (CRP) and so on. --- G1691A --- --- G20210A ---

Primary Outcomes

Description: "Therapeutic zone" has been defined based on the previous clinical trials (85 ≤ VerifyNow P2Y12 Reaction Unit ≤ 208)

Measure: Proportion matching to the optimal therapeutic zone

Time: 1 month

Secondary Outcomes

Description: BARC Definition for bleeding: defined as type 1, 2, 3 (3a, 3b and 3c), and 5 (5a and 5b), according to the Bleeding Academic Research Consortium classification Type 1 (nuisance or superficial bleeding Type 2 (internal bleeding) Type 3a (TIMI minor bleeding) Type 3b (TIMI major bleeding) Type 3c (life threatening bleeding) Type 4 (CABG-related bleeding) Type 5a (probable fatal bleeding) Type 5b (definite fatal bleeding)

Measure: Prevalence of BARC bleeding

Time: 1 month

Description: "LPR" means "low on-treatment platelet reactivity", which can increase the risk of clinically serious bleeding

Measure: The cutoff of "LPR" in Asians

Time: 1 month

Description: Multiple clinical studies have shown that the cutoff of about 266 PRU is associated with the risk of ischemic event in Asians. LPR will be based on the data of the A-MATCh trial.

Measure: Proportion matching to Asian therapeutic zone of platelet reactivity

Time: 1 month

Other Outcomes

Description: MACE includes composite of CV death, non-fatal MI, stent thrombosis, stroke or ischemia-driven TVR

Measure: Composite of major adverse clinical events (MACE)

Time: 1 month

26 A Randomized, Global, Double-blind, Placebo-controlled, Parallel-group Study to Evaluate the Efficacy and Safety of Once-daily Oral Avatrombopag for the Treatment of Adults With Thrombocytopenia Associated With Liver Disease Prior to an Elective Procedure

This is a global, multicenter, randomized, double-blind, placebo-controlled, parallel group study using avatrombopag to treat adults with thrombocytopenia associated with liver disease. The study will evaluate avatrombopag in the treatment of thrombocytopenia associated with liver disease prior to an elective procedure to reduce the need for platelet transfusions or any rescue procedure for bleeding due to procedural and post-procedural bleeding complications. Participants will be enrolled into 2 cohorts according to mean baseline platelet count and, within each baseline platelet count cohort will be further stratified by risk of bleeding associated with the elective procedure (low, moderate, or high) and hepatocellular carcinoma (HCC) status (Yes or No).

NCT01972529
Conditions
  1. Thrombocytopenia Associ
  2. Thrombocytopenia Associated With Liver Disease
Interventions
  1. Drug: avatrombopag (lower baseline platelet count)
  2. Drug: placebo (lower baseline platelet count)
  3. Drug: avatrombopag (higher baseline platelet count)
  4. Drug: placebo (higher baseline platelet count)
MeSH:Liver Diseases Thrombocytopenia
HPO:Abnormality of the liver Decreased liver function Elevated hepatic transaminase Thrombocytopenia

Known medical history of genetic prothrombotic syndromes (eg, Factor V Leiden; prothrombin G20210A; ATIII deficiency, etc.) 18. Participants with a history of significant cardiovascular disease (eg, congestive heart failure New York Heart Association Grade III/IV, arrhythmia known to increase the risk of thromboembolic events [eg, atrial fibrillation], coronary artery stent placement, angioplasty, and coronary artery bypass grafting) 19. --- G20210A ---

Primary Outcomes

Description: Responders were defined as participants who did not require a platelet transfusion or any rescue procedure for bleeding after randomization and up to 7 days following a scheduled procedure. Participants with missing information due to early withdrawal or other reasons were conservatively considered as having received a transfusion in the analysis, (i.e. a Non-responder).

Measure: Percentage of Participants Who Did Not Require a Platelet Transfusion or Any Rescue Procedure for Bleeding After Randomization Following a Scheduled Procedure

Time: Baseline (Visit 2) up to 7 days following a scheduled procedure

Secondary Outcomes

Description: Responders were defined as participants who achieved a platelet count greater than or equal to 50 x 10^9/L on the procedure day. Participants with missing a platelet count on the procedure day were conservatively considered as not achieving a platelet count of 50x10^9/L in the analysis, (i.e. Non-responders).

Measure: Percentage of Participants Who Achieved a Platelet Count Greater Than or Equal to 50 x 10^9/L on the Scheduled Procedure Day

Time: Day 10 to Day 13 (Visit 4)

Description: Last observation carried forward was used for participants with a missing platelet count on the scheduled procedure day. Platelet count was measured preprocedure and before any platelet transfusion.

Measure: Change From Baseline in Platelet Count on the Scheduled Procedure Day

Time: Baseline (Visit 2) to Procedure Day 10 to Day 13 (Visit 4)

Other Outcomes

Description: The severity of bleeding events was assessed by the investigator (or appropriately delegated study site personnel) using the WHO bleeding scale. The WHO bleeding scale is a clinical investigator-assessed five-point scale with Grade 0 = No bleeding, Grade 1 = Petechial bleeding, Grade 2 = Mild blood loss (clinically significant), Grade 3 = Gross blood loss (requires transfusion (severe)), and Grade 4 = Debilitating blood loss, retinal or cerebral associated with fatality. Participants with missing information are considered as having a WHO bleeding score greater than or equal to 2 in the analysis.

Measure: Percentage of Participants With a World Health Organization (WHO) Bleeding Score Greater Than or Equal to 2 After a Scheduled Procedure

Time: Baseline (Visit 2) up to 7 days post scheduled procedure

Description: Safety assessments consisted of monitoring and recording all adverse events (AEs) and serious adverse events, including platelet transfusion-related complications; routine laboratory evaluation for hematology, serum chemistry, and urine values; periodic measurement of vital signs and electrocardiograms (ECGs); the performance of physical examinations; and Doppler sonography. AE severity was graded using Common Terminology Criteria for Adverse Events (CTCAE) version 4.0, where Grade 1 = mild, Grade 2 = moderate, Grade 3 = Severe, Grade 4 = Life-threatening, and Grade 5 = Death related to the AE. All AEs graded as 4 or 5 were considered to be serious. Treatment-emergent adverse events (TEAEs) were defined as an AE that started on or after the date of first dose of study drug, up to 30 days after the last dose of study drug. Treatment-related AEs were considered by the investigator to be possibly or probably related to study drug.

Measure: Number of Participants Experiencing an Adverse Event

Time: From date of first dose of study drug up to 30 days after the last dose of study drug, up to approximately 3 years

27 A Randomized, Global, Double-blind, Placebo-controlled, Parallel-group Study to Evaluate the Efficacy and Safety of Once-daily Oral Avatrombopag for the Treatment of Adults With Thrombocytopenia Associated With Liver Disease Prior to an Elective Procedure

This is a global, multicenter, randomized, double-blind, placebo-controlled, parallel group study using avatrombopag to treat adults with thrombocytopenia associated with liver disease. The study will evaluate avatrombopag in the treatment of thrombocytopenia associated with liver disease prior to an elective procedure to reduce the need for platelet transfusions or any rescue procedure for bleeding due to procedural and post-procedural bleeding complications. Participants will be enrolled into 2 cohorts according to mean baseline platelet count and, within each baseline platelet count cohort will be further stratified by risk of bleeding associated with the elective procedure (low, moderate, or high) and hepatocellular carcinoma (HCC) status (Yes or No).

NCT01976104
Conditions
  1. Thrombocytopenia Associated With Liver Disease
Interventions
  1. Drug: avatrombopag (lower baseline platelet count)
  2. Drug: placebo (lower baseline platelet count)
  3. Drug: avatrombopag (higher baseline platelet count)
  4. Drug: placebo (higher baseline platelet count)
MeSH:Liver Diseases Thrombocytopenia
HPO:Abnormality of the liver Decreased liver function Elevated hepatic transaminase Thrombocytopenia

Known medical history of genetic prothrombotic syndromes (eg, Factor V Leiden; prothrombin G20210A; ATIII deficiency, etc.) 18. Participants with a history of significant cardiovascular disease (eg, congestive heart failure New York Heart Association Grade III/IV, arrhythmia known to increase the risk of thromboembolic events [eg, atrial fibrillation], coronary artery stent placement, angioplasty, and coronary artery bypass grafting) 19. --- G20210A ---

Primary Outcomes

Description: Responders were defined as participants who did not require a platelet transfusion or any rescue procedure for bleeding after randomization and up to 7 days following a scheduled procedure. Participants with missing information due to early withdrawal or other reasons were conservatively considered as having received a transfusion in the analysis, (i.e. a Non-responder).

Measure: Percentage of Participants Who Did Not Require a Platelet Transfusion After Randomization and up to 7 Days Following a Scheduled Procedure

Time: Randomization (Visit 2), up to 7 Days following a scheduled procedure

Secondary Outcomes

Description: Responders were defined as participants who achieved a platelet count greater than or equal to 50 x 10^9/L on the procedure day. Participants missing a platelet count on the procedure day were conservatively considered as not achieving a platelet count of 50x10^9/L in the analysis, (i.e. Non-responders).

Measure: Percentage of Participants Who Achieved a Platelet Count Greater Than or Equal to 50 x 10^9/L on Scheduled Procedure Day

Time: Day 10 to Day 13 (Visit 4)

Description: Last observation carried forward was used for participants with a missing platelet count on the scheduled procedure day. Platelet count was measured preprocedure and before any platelet transfusion.

Measure: Change From Baseline in Platelet Counts on Scheduled Procedure Day

Time: Baseline (Visit 2) to Procedure Day 10 to Day 13 (Visit 4)

Other Outcomes

Description: The severity of bleeding events was assessed by the investigator (or appropriately delegated study site personnel) using the WHO bleeding scale. The WHO bleeding scale is a clinical investigator-assessed five-point scale with Grade 0 = No bleeding, Grade 1 = Petechial bleeding, Grade 2 = Mild blood loss (clinically significant), Grade 3 = Gross blood loss requires transfusion (severe), and Grade 4 = Debilitating blood loss, retinal or cerebral associated with fatality. Participants with missing information are considered as having a WHO bleeding score greater than or equal to 2 in the analysis.

Measure: Percentage of Participants With a World Health Organization (WHO) Bleeding Score Greater Than or Equal to 2 After Randomization and up to 7 Days After an Scheduled Procedure

Time: Baseline (Visit 2) up to 7 days post scheduled procedure

Description: Safety assessments consisted of monitoring and recording all adverse events (AEs) and serious adverse events, including platelet transfusion-related complications; routine laboratory evaluation for hematology, serum chemistry, and urine values; periodic measurement of vital signs and electrocardiograms (ECGs); the performance of physical examinations; and Doppler sonography. AE severity was graded using Common Terminology Criteria for Adverse Events (CTCAE) version 4.0, where Grade 1 = mild, Grade 2 = moderate, Grade 3 = Severe, Grade 4 = Life-threatening, and Grade 5 = Death related to the AE. All AEs graded as 4 or 5 were considered to be serious. Treatment-emergent adverse events (TEAEs) were defined as an AE that started on or after the date of first dose of study drug, up to 30 days after the last dose of study drug. Treatment-related AEs were considered by the investigator to be possibly or probably related to study drug.

Measure: Number of Participants Experiencing an Adverse Event

Time: From date of first dose of study drug up to 30 days after the last dose of study drug, up to approximately 3 years and 2 months

28 Pilot Study of Post-thrombotic Syndrome & Predictors of Recurrence in Cancer Patients With Catheter-related Thrombosis

The goal of the pilot study is to determine if a multicenter prospective cohort study of cancer patients with blood clots associated with catheters is feasible. Cancer patients with catheter-related thrombosis treated with one month of anticoagulation will be evaluated for for post-thrombotic syndrome. Laboratory biomarkers will be evaluated as predictors of recurrent thrombosis.

NCT01999179
Conditions
  1. Venous Thrombosis
  2. Neoplasms
Interventions
  1. Drug: Heparin, Low-Molecular-Weight, or direct oral anticoagulants
MeSH:Thrombosis Venous Thrombosis Postthrombotic Syndrome Postphlebitic Syndrome Recurrence
HPO:Deep venous thrombosis Venous thrombosis

- >18 years of age - Platelet count >50,000 - Creatinine clearance >30 ml/min - Ability to provide informed consent Exclusion Criteria: - Underlying medical condition or chemotherapy requiring long-term anticoagulation - Known underlying higher risk thrombophilias including antiphospholipid antibody syndrome, antithrombin, protein C or protein S deficiencies, or homozygosity or compound heterozygosity for prothrombin G20210A or Factor V R506Q mutations. --- G20210A ---

Primary Outcomes

Description: Recruitment of 56 patients in 1 year and 80% completion of post-thrombotic syndrome assessments by enrolled patients

Measure: Number of cancer patients enrolled with catheter-related thrombosis treated with 1 month of anticoagulation

Time: 1 year

Secondary Outcomes

Description: Obtaining 80% of samples from enrolled patients

Measure: Number of plasma samples obtained for biomarker analysis to predict recurrent venous thrombosis

Time: 1 year

Other Outcomes

Description: <20% will have incidence of post-thrombotic syndrome 6 months after catheter removal

Measure: Incidence of post-thrombotic syndrome in cancer patients with catheter-related thrombosis treated with 1 month of anticoagulation

Time: 6 months after catheter removal

Description: <20% will have incidence of post-thrombotic syndrome 6 months after catheter removal

Measure: Incidence of recurrent thrombosis in cancer patients with catheter-related thrombosis treated with 1 month of anticoagulation

Time: 6 months after catheter removal

Description: <20% will have incidence of post-thrombotic syndrome 6 months after catheter removal

Measure: Incidence of major and clinically relevant non-major bleeding in cancer patients with catheter-related thrombosis treated with 1 month of anticoagulation

Time: 6 months after catheter removal

29 Evaluation of FDOPA-PET/MRI in Pediatric Patients With CNS Tumors, A Feasibility Study

To determine if FDOPA-PET/MRI imaging can predict response to treatment of bevacizumab.

NCT01999270
Conditions
  1. Astrocytoma, Oligoastrocytoma, Mixed
  2. Ganglioneuroma
  3. Glioma
  4. Ganglioglioma
  5. Glioblastoma Multiforme Glioma
Interventions
  1. Drug: Irinotecan
  2. Drug: Bevacizumab
  3. Device: FDOPA-PET/MRI imaging
MeSH:Glioblastoma Glioma Astrocytoma Ganglioglioma Ganglioneuroma
HPO:Astrocytoma Ganglioneuroma Glioblastoma multiforme Glioma Subependymal giant-cell astrocytoma

- Patient must not have a known thrombophilic condition (i.e. protein S, protein C or antithrombin III deficiency, Factor V Leiden, Factor II G20210A mutation, homocysteinemia, or antiphospholipid antibody syndrome). --- G20210A ---

Primary Outcomes

Description: The imaging is evaluated: (a) the uptake of PET tracer FDOPA measured by average and maximal standardized uptake values (SUVs) as well as tumor to normal brain ratios; and (b) tumor volumes defined by MRI signal abnormality.

Measure: FDOPA-PET/MRI imaging

Time: 1 year

30 A Phase 2, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy, Safety, and Pharmacokinetics of Once-daily Oral Avatrombopag in Japanese Subjects With Chronic Liver Disease and Thrombocytopenia

This is a phase 2, randomized, double-blind, placebo-controlled, parallel group study using avatrombopag for Japanese subjects with thrombocytopenia associated with chronic liver disease. This study will assess the effect of avatrombopag on platelet counts in Japanese subjects. Subjects will be enrolled into 2 cohorts according to the mean platelet count measured at Screening and Baseline. Within the lower baseline platelet count cohort (less than 40 x 10^9/L), subjects will be randomized in a 1:1:1:3 ratio to receive placebo, 20 mg avatrombopag, 40 mg avatrombopag, or 60 mg avatrombopag for 5 days. Within the higher baseline platelet count cohort (from 40 to less than 50 x 10^9/L), subjects will be randomized in a 2:1:2 ratio to receive placebo, 20 mg avatrombopag, or 40 mg avatrombopag for 5 days.

NCT02227693
Conditions
  1. Thrombocytopenia Associated With Chronic Liver Disease
Interventions
  1. Drug: avatrombopag
  2. Drug: Placebo
MeSH:Liver Diseases Thrombocytopenia
HPO:Abnormality of the liver Decreased liver function Elevated hepatic transaminase Thrombocytopenia

Known medical history of genetic prothrombotic syndromes (eg, Factor V Leiden; prothrombin G20210A; ATIII deficiency etc.) 17. --- G20210A ---

Primary Outcomes

Description: Responders were defined as participants whose platelet count was greater than or equal to 50×10^9/liter (L) and change from baseline was at least 20×10^9/L at Visit 4. Participants receiving a platelet transfusion prior to the platelet count assessment at Visit 4 were considered as non-responders in the analysis. Two-sided 95% confidence interval (CI) is calculated by Clopper and Pearson method.

Measure: Percentage of Participants With Platelet Count Greater Than or Equal to 50 x 10^9/L and at Least 20 x 10^9/L Increase From Baseline at Visit 4

Time: Baseline and Visit 4 (Day 10)

Secondary Outcomes

Description: Responders were defined as the participants whose platelet count greater than or equal to 50 x 10^9/L by visit. Participants receiving a platelet transfusion prior to the platelet count assessment at Visit 4 were considered as non-responders in the analysis. Two-sided 95% CI is calculated by Clopper and Pearson method.

Measure: Percentage of Participants With Platelet Count Greater Than or Equal to 50 x 10^9/L at Each Visit

Time: Visit 3 (Day 4 or 5), Visit 4 (Day 10), Visit 5 (Day 17) and Visit 6 (Day 35)

Description: Responders were defined as the participants whose platelet count greater than or equal to 75 x 10^9/L by visit. Participants receiving a platelet transfusion prior to the platelet count assessment at Visit 4 were considered as non-responders in the analysis. Two-sided 95% CI is calculated by Clopper and Pearson method.

Measure: Percentage of Participants With Platelet Count Greater Than or Equal to 75 x 10^9/L at Each Visit

Time: Visit 3 (Day 4 or 5), Visit 4 (Day 10), Visit 5 (Day 17) and Visit 6 (Day 35)

Description: Responders were defined as the participants whose platelet count greater than or equal to 150 x 10^9/L by visit. Participants receiving a platelet transfusion prior to the platelet count assessment at Visit 4 were considered as non-responders in the analysis.

Measure: Percentage of Participants With Platelet Count Greater Than or Equal to 150 x 10^9/L At Each Visit

Time: Visit 3 (Day 4 or 5), Visit 4 (Day 10), Visit 5 (Day 17) and Visit 6 (Day 35)

Description: Responders were defined as the participants whose platelet count greater than or equal to 200 x 10^9/L by visit. Participants receiving a platelet transfusion prior to the platelet count assessment at Visit 4 were considered as non-responders in the analysis.

Measure: Percentage of Participants With Platelet Count Greater Than or Equal to 200 x 10^9/L At Each Visit

Time: Visit 3 (Day 4 or 5), Visit 4 (Day 10), Visit 5 (Day 17) and Visit 6 (Day 35)

Measure: Platelet Count and Change From Baseline in Platelet Count by Visit

Time: Baseline, Visit 3 (Day 4 or 5), Visit 4 (Day 10), Visit 5 (Day 17) and Visit 6 (Day 35)

Other Outcomes

Description: Safety assessments consisted of monitoring and recording all AEs and SAEs, regular monitoring of hematology, blood chemistry, and urine values; periodic measurement of vital signs and electrocardiograms; physical examinations; and Doppler sonography. AE severity was graded using Common Terminology Criteria for Adverse Events (CTCAE) version 4.0, where Grade 1 = mild, Grade 2 = moderate, Grade 3 = Severe, Grade 4 = Life-threatening, and Grade 5 = Death related to the AE. All AEs graded as 4 or 5 were considered to be serious. A treatment-emergent adverse event (TEAE) was defined as an AE that started on or after the date of first dose of study drug, up to 30 days after the last dose of study drug. For each category, a participant with two or more adverse events in that category was counted only once. Treatment-related TEAEs were considered by the investigator to be possibly or probably related to study drug or TEAEs with a missing causality.

Measure: Number of Participants With Adverse Events (AEs) and Serious Adverse Events (SAEs)

Time: From the date of first dose of study drug up to 30 days after the last dose of the study drug, up to approximately 10 months

Measure: Number of Participants With Treatment-emergent Markedly Abnormal Laboratory Value (TEMAV) for Haematology

Time: From the date of Screening until the date of last dose of study drug plus 30 days (Approximately 10 months)

Measure: Number of Participants With Clinically Significant Findings in Laboratory Values for Serum

Time: From the date of Screening until the date of last dose of study drug plus 30 days (Approximately 10 months)

Measure: Number of Participants With Clinically Significant Findings in Laboratory Values for Urinalysis

Time: From the date of Screening until the date of last dose of study drug plus 30 days (Approximately 10 months)

Measure: Number of Participants With Clinically Significant Change From Baseline in Vital Sign Values

Time: From the date of Screening until the date of last dose of study drug plus 30 days (Approximately 10 months)

Measure: Number of Participants With Markedly Abnormal Electrocardiographs

Time: From the date of Screening until the date of last dose of study drug plus 30 days (Approximately 10 months)

31 A Proposal of a Prospective Study on Prevention of Pregnancy Loss in Women Carrying Inherited Thrombophilia

The occurrence of a spontaneous fetal loss (FL) is a rather frequent event: it has been estimated that up to 15% of pregnancies result in a fetal loss. However, recurrent events, defined as >2 or >3 loss, depending on the guidelines used (American College of Obstetricians and Gynecologists or Royal College of Obstetricians Gynaecologists guidelines), occur in 1 % of all pregnancies and it is noteworthy that Recurrent Fetal Loss ( RFL) in about 30-40% of cases remain unexplained after standard gynaecological, hormonal and karyotype investigations. Furthermore, it is important to consider that chromosomal abnormalities are responsible for at least 60% of FL in the first trimester, thus an abnormal karyotype in the fetus should be excluded prior to consider testing women for genetic susceptibility to placental vascular complications (inherited thrombophilia). Common inherited conditions, the factor V Leiden (FV) and the factor II G20210A (FII) mutations have been recognized as risk factors for FL. The efficacy of treatment with antithrombotic drugs during pregnancy in women with a history of RFL/ Intra Uterine Fetal Death (IUFD) and thrombophilia is still debated, due to scarcity of available data. Italian guidelines suggest the use of Low-Molecular-Weight Heparin (LMWH) in women with FV or FII mutations and previous otherwise unexplained obstetric complications, while guidelines released by RCOG suggest that heparin therapy during pregnancy may improve the live birth rate in women with second trimester loss associated with inherited thrombophilias. Hence, the idea to propose this prospective observational study comparing clinical data and outcomes in women with common inherited thrombophilias and in women without. During this study the investigators will collect and evaluate clinical data from examinations and visits by patients, eligible for the study as carriers of thrombophilic defects. This observation will begin before pregnancy and continue until the puerperium, allowing us to study all possible factors influencing these conditions. The study will add knowledge for improving feto-maternal prognosis and preventing spontaneous and recurrent FL. Plan of the study: multicenter observational study

NCT02385461
Conditions
  1. Pregnancy Complications
Interventions
  1. Drug: Low Molecular Weight Heparins (LMWHs)
MeSH:Pregnancy Complications Thrombophilia
HPO:Hypercoagulability

Common inherited conditions, the factor V Leiden (FV) and the factor II G20210A (FII) mutations have been recognized as risk factors for FL. --- G20210A ---

Primary Outcomes

Measure: Number of live births

Time: 10 months

32 Clinical Investigation to Evaluate the Haemonetics POLFA Modified Sample Needle Assembly With Vacuum Tube Holder

This study evaluates whether whole blood transferred through the new POLFA needle assembly meets supernatant hemoglobin acceptability standards.

NCT02476851
Conditions
  1. Transmission, Blood, Recipient/Donor
Interventions
  1. Device: POLFA (Needle Assembly)
  2. Device: Kawasumi (Needle Assembly)

- Study donors must not have experienced any of the following: Physical trauma consistent with associated coagulopathy within the last 30 days, Surgery within the last 30 days, Known history of hypercoagulopathy (i.e., Factor V Leiden, Prothrombin G20210A, idiopathic venous thrombotic events, etc.). --- G20210A ---

Primary Outcomes

Description: demonstrate within a 95% CI and 95% reliability that whole blood transferred to a Vacutainer® through the POLFA needle will have supernatant hemoglobin levels <100 mg/dL

Measure: Plasma supernatant hemoglobin

Time: within 1 month of enrollment

33 Thromboprophylaxis in Pregnant Women in Hospital: A Prospective Clinical Trial

Hospitalization in pregnancy and childbirth greatly increases the thromboembolic risk of these patients. The application of a protocol for assessing the risk of VTE reduces mortality and morbidity of these phenomena.

NCT02600260
Conditions
  1. Thrombophilia Associated With Pregnancy
  2. Perioperative/Postoperative Complications
  3. Venous Thrombosis
  4. Pulmonary Embolism
  5. Other Specified Risk Factors in Pregnancy
  6. Deep Vein Thrombosis
Interventions
  1. Drug: Enoxaparin
  2. Other: No intervention
MeSH:Pulmonary Embolism Thrombosis Embolism Venous Thrombosis Thrombophilia Postoperative Complications
HPO:Deep venous thrombosis Hypercoagulability Pulmonary embolism Venous thrombosis

Risk score description: score 3 - previous thrombosis/thromboembolism, homozygous mutations, combined thrombophilia risk factors, antiphospholipid syndrome, cancer(stomach, pancreas, lung), inflammatory conditions, lupus, sickle cell disease, nephrotic syndrome, heart disease; Score 2 - Protein C deficiency, Protein S deficiency, heterozygous F5 Leiden, heterozygous F2 G20210A mutation, cancer(last 6 months), chemotherapy(last 6m), immobility, bed rest >4d prior to C-section, current serious infections, BMI≥40 kg/m2 , age≥40y, lung disease(cyanosis), postpartum hemorrhage >1L; Score 1 - age ≥ 35 and ≤39 y, parity ≥3, multiple pregnancy, hyperemesis, gross varicose veins, smoker ≥20, surgical procedure. --- G20210A ---

Primary Outcomes

Description: Identify early risk factors for VTE in hospitalized pregnant women and prescribe appropriate prophylaxis to reduce the incidence, morbidity and mortality of VTE. The patients that score ≥ 3 will receive enoxaparin. This group will be analyzed for the incidence of adverse outcomes: VTE, bleeding, death until 3 months post hospitalization. This same analysis will be done in those patients who have not received heparin. The patients that could not receive heparin due to bleeding risk will be analyzed also. The analysis of the score will also describe if the higher the score, the higher the index of adverse events, mainly when it is not possible to prescribe the prophylaxis.

Measure: Number of hospitalized pregnant patients with venous thromboembolism (VTE), death and adverse events after applying an in hospital risk score for thrombosis at 12 weeks post discharge.

Time: 4 years

34 Risk Factors for Variceal Bleeding in Egyptian Patients With Non-Cirrhotic Portal Hypertension

Background & Aims: Non-cirrhotic portal hypertension (NCPH) represents a relatively infrequent group of conditions. This work aimed at determining causes of NCPH and evaluating the role of some clinical, laboratory, imaging and endoscopic parameters in prediction of variceal bleeding in an Egyptian cohort with NCPH. Methods: Sixty patients with non-cirrhotic portal hypertension and oesophageal varices were included. All underwent complete clinical evaluation, laboratory investigations, Color Doppler ultrasonography, platelet count/spleen diameter (mm) ratio and upper gastrointestinal endoscopy. Patients were classified into two groups according to variceal bleeding: (1) Group I: twenty six patients with history of bleeding or had an attack of bleeding during one year follow-up; and (2) Group II: thirty four patients without bleeding.

NCT02635815
Conditions
  1. Portal Hypertension
Interventions
  1. Procedure: Upper gastrointestinal endoscopy
MeSH:Hypertension, Portal Hypertension
HPO:Hypertension Portal hypertension

It was done only for patients with Budd-Chiari syndrome and extrahepatic portal vein thrombosis: anticardiolipin antibodies, lupus anticoagulant, antinuclear antibodies, protein C, S, antithrombin III, factor V Leiden G1691A mutation, prothrombin gene G20210A mutation, methylene tetrahydrofolate reductase C677T mutation by PCR, Janus tyrosine kinase-2 (JAK II) V617F mutation by PCR (to exclude myeloproliferative disorders) and flow cytometry for CD55 and CD59 (to exclude paroxysmal nocturnal hemoglobinuria); (4) Abdominal ultrasonography: for liver size, echogenicity, spleen size, portal vein diameter and ascites; (5) Color Doppler ultrasonographic study: was done in the morning after an overnight fasting using a color Doppler unit with a 3.5 MHz convex probe for confirmation of portal vein (PV) patency and diameter, mean PV flow velocity (mean PVV) (cm/sec), PV direction of flow, splenic vein patency and diameter, presence of portosystemic collaterals and patency of hepatic veins; (6) Platelet count/spleen diameter ratio: calculated as: platelet count/ maximum spleen bipolar diameter by ultrasound in mm; (7) Ultrasonography guided liver biopsy: for diagnosis of NCPH and exclusion of cirrhotic portal hypertension; and (8) Upper gastrointestinal endoscopy using the Pentax video endoscope EG 3440. --- G1691A --- --- G20210A ---

Primary Outcomes

Measure: The presence or absence of variceal bleeding within one year of follow up.

Time: 1 year

35 A Toll-like Receptor Agonist as an Adjuvant to Tumor Associated Antigens (TAA) Mixed With Montanide ISA-51 VG With Bevacizumab for Patients With Recurrent Glioblastoma

This is a phase II study to determine the immunogenicity and efficacy of a vaccine composed of tumor associated long synthetic peptides mixed with Montanide ISA-51 VG administered with polyinosinic-polycytidylic acid - poly-L-lysine carboxymethylcellulose (Poly-ICLC) and bevacizumab in adults with recurrent glioblastoma.

NCT02754362
Conditions
  1. Glioblastoma
  2. Glioma
Interventions
  1. Drug: Bevacizumab
  2. Biological: Peptide Vaccine
  3. Drug: Poly-ICLC as immune adjuvant
  4. Drug: Keyhole limpet hemocyanin (KLH)
MeSH:Glioblastoma
HPO:Glioblastoma multiforme

- Patients must not have a known thrombophilic condition (i.e. protein S, protein C or antithrombin III deficiency, Factor V Leiden, Factor II G20210A mutation, homocysteinemia or antiphospholipid antibody syndrome). --- G20210A ---

Primary Outcomes

Measure: Assays to determine immunity to the vaccine's antigen

Time: 9 Weeks

Measure: Measure of Humoral Immune Responses measured by ELISA

Time: 9 Weeks

Description: Measured either ex-vivo (assayed directly from thawed PBMCs) or following in-vitro pre-sensitization.

Measure: Antigen specific CD4+ and CD8+ T-cell reactivity to the peptide antigens measured by intracellular cytokine staining

Time: 9 Weeks

Measure: CD4+ and CD8+ T cell reactivity to KLH measured by T cell proliferation quantified by tritiated thymidine incorporation

Time: 9 Weeks

Measure: Measure of Tumor Responses measured by the Response Evaluation Criteria in Solid Tumors (RECIST).

Time: 1 Day

36 A Phase 1 Multi-Center, Dose-Escalation Study of Vonapanitase Administered Percutaneously to the Superficial Femoral or Popliteal Artery in Patients With Peripheral Artery Disease

The research study is designed to assess the technical feasibility and safety of percutaneous administration of vonapanitase to the superficial femoral or popliteal artery in patients with PAD.

NCT02953496
Conditions
  1. Peripheral Artery Disease
Interventions
  1. Drug: vonapanitase
MeSH:Peripheral Arterial Disease
HPO:Peripheral arterial stenosis

7. Known hypercoagulable state (e.g., protein C deficiency, factor V Leiden mutation, prothrombin G20210A mutation). --- G20210A ---

Primary Outcomes

Description: Safety assessments include physical exams, duplex Doppler ultrasound and routine serum chemistry and hematology tests

Measure: Incidence of adverse events

Time: Up to 6 months following study drug administration

Description: Technical success of study drug administration will be assessed by the extent of circumferential and longitudinal coverage of the artery using a protocol-defined assessment scale

Measure: Technical success of percutaneous injection

Time: Intraprocedural

Other Outcomes

Measure: Peak systolic velocity ratio [PSVR]

Time: 14 days and 6 months following study drug administration

Measure: Minimum lumen diameter [MLD]

Time: 14 days and 6 months following study drug administration

Measure: Rutherford category

Time: 14 and 28 days, and 6 months following study drug administration

Measure: Ankle-brachial index [ABI]

Time: 14 days and 6 months following study drug administration

Measure: 6-minute walk test [6MWT]

Time: 14 days and 6 months following study drug administration

37 A Phase 1, Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Dose-Escalation Study of Vonapanitase Administered Following Angioplasty of a Distal Popliteal, Tibial or Peroneal Artery in Patients With Peripheral Artery Disease

The research study is designed to assess the technical feasibility and safety of a perivascular injection of vonapanitase delivered via micro-infusion catheter to the distal popliteal, tibial or peroneal arteries immediately following successful angioplasty.

NCT02956993
Conditions
  1. Peripheral Artery Disease
Interventions
  1. Drug: vonapanitase
  2. Drug: Placebo
MeSH:Peripheral Arterial Disease
HPO:Peripheral arterial stenosis

6. Known hypercoagulable state (e.g., protein C deficiency, factor V Leiden, prothrombin G20210A mutation). --- G20210A ---

Primary Outcomes

Description: Safety assessments include physical exams and routine serum chemistry and hematology tests

Measure: Incidence of adverse events

Time: Up to 6 months following study drug administration

Description: Technical success of study drug administration will be assessed by the extent of circumferential and longitudinal coverage of the artery using a protocol-defined assessment scale

Measure: Technical success of perivascular injection

Time: Intraprocedural

Other Outcomes

Measure: Minimum lumen diameter [MLD]

Time: Intraprocedural and 6 months following study drug administration

Measure: Minimum lumen area [MLA]

Time: Intraprocedural and 6 months following study drug administration

Measure: Incidence of arterial occlusion

Time: 14 days and 6 months following study drug administration

Measure: Rutherford category

Time: 14 and 28 days, and 6 months following study drug administration

Measure: Ankle-brachial index [ABI]

Time: 14 days and 6 months following study drug administration

Measure: Vascular Quality of Life Questionnaire-6 [VascuQol-6

Time: 14 days and 6 months following study drug administration

38 Intralipid Related Effect on NKcells in Patients With Unexplained Recurrent Spontaneous Abortions

Evaluating the effect of intralipid on the natural killer cells

NCT03132779
Conditions
  1. Recurrent Miscarriage
Interventions
  1. Drug: Intralipid
MeSH:Abortion, Spontaneous Abortion, Habitual
HPO:Spontaneous abortion

Exclusion Criteria: - Any other diseases causing miscarriage as autoimmune (lupus erythematosus or antiphospholipid antibodies syndrome )or endocrinopathy (diabetes mellitus, thyroid disorders and hyperprolactinaemia)or thrombophilia (factor v leiden mutation, protein c or s deficiency, prothrombin G20210A mutation, antithrombin III deficiency ) or abnormal karyotyping to one or both of parents or previous history of hormonal contraception or intrauterine device usage at last 3 months or any contraindications for intralipid usage. --- G20210A ---

Primary Outcomes

Description: NK cells is measured before and after injection of intralipid and is noticed for change in activity

Measure: Change in NK cells activity after injection of intralipid

Time: One week

39 Downstream Molecular Signals of P2Y12 Receptors in Hyporeactive Patients Under Clopidogrel Treatment (A Possible Mechanism of HOTPR:High On- Treatment Platelet Reactivity)

The investigators designed the following experiment to observe the pattern of administration in vitro, which can be completely excluded liver enzyme cytochrome P450 metabolism under the influence and observe the relevant P2Y12 receptor downstream signal changes, hope in the above experiments, that the human body directly for the difference between the existence of drug reactions exist.

NCT03190005
Conditions
  1. Stable Angina
Interventions
  1. Drug: clopidogrel
  2. Drug: Placebos
MeSH:Angina, Stable

The investigators ran a previous related plan within 2014 under the medical study project budget of the Taipei City hospital, which named "platelet reactivity as a post-percutaneous coronary stent implantation antiplatelet adjust the reference", it has been figured that responsibility under the P2Y12 receptor inhibitors were significantly different between the taiwanese and Caucasians (taiwanese revealed clopidogrel lower responsive, but stronger reaction to ticagrelor), although "low" response to clopidogrel between taiwanese (In fact, according to our experiments, 30 days after medication, the rate of HOTPR-High On- Treatment Platelet Reactivity; namely PRU≥208, the taiwanese and Caucasians are very close to each), but it has relative lower subacute stent thrombosis rate than the Caucasian at 30 days(This reaction is also known as the "Asian paradox" ), according to literature known abroad because of the high prevalence of CYP2C19 point gene deletion rate among the Asians (compare with Caucasians: ~ 65% vs ~ 30%); there also suggested other possible explanations: Caucasian factor V Leiden (G1691A) and prothrombin (G20210A) a higher proportion of mutations, on hemostatic factors (fibrinogen, d-dimer, and factor VIII) and plasma endothelial activation markers (such as von Willebrand factor, intercellular adhesion molecule 1, and E-selectin) existed differences between the races; in addition, a number of different indicators of inflammation, such as CRP. --- G1691A --- --- G20210A ---

Primary Outcomes

Description: PRU(Platelet Rreactivity Unit) 24 hours after DAPT(Dual AntiPlatelet Therapy) Western blot after medication

Measure: PRU(Platelet Rreactivity Unit) 24 Hours After DAPT(Dual AntiPlatelet Therapy) Western Blot After Medication

Time: 24 hours

40 Risk of Venous Thromboembolism in First Degree Relatives of Women With or Without Venous Thromboembolism During Hormonal Exposure

Young women have an increased risk of venous thromboembolism (VTE) during hormonale exposure (estrogen-containing pill or pregnancy). In order to detect women at higher risk of VTE during hormonal exposure, thrombophilia testing is often performed in order to adapt contraception methods and/or to increases thromboprophylaxy during pregnancy. However, such practice is probably not accurate nor discriminent. Indeed, there are evidence that the impact of the familial history of VTE might be stronger than that of detectable inherited thrombophilia. The "FIT-H" study is a cross-sectional study comparing the prevalence of previous venous thromboembolism in first-degree relatives of women (propositi) who had a first episode of venous thromboembolism in association with hormonal exposure with the prevalence of previous venous thromboembolism in first-degree relatives of women who did not have venous thromboembolism during a similar hormonal exposure. The primary objective is to determine the association between the presence or the absence of VTE in young women during hormonal exposure and the presence or the absence of a previous episode of VTE in their first-degree relatives. Secondary objective is to determine the impact of associated inherited thrombophilia on the risk of VTE in first-degree relatives.

NCT03206372
Conditions
  1. Venous Thromboembolic Disease
Interventions
  1. Other: Case group
  2. Other: Control group
MeSH:Thromboembolism Venous Thromboembolism
HPO:Thromboembolism

- Secondary objectives: - To determine if this there is an influence of a detectable inherited minor thrombophilia (factor V Leiden, G20210A prothrombin variant) on the risk of VTE in first-degree relatives - To determine if this there is an influence of a detectable inherited major thrombophilia (protein, S or antithrombin deficiency) on the risk of VTE in first-degree relatives - To determine the impact of the clinical characteristics of VTE in their first-degree relatives (age, dead or alive at the time of inclusion) - To determine the impact of clinical characteristic of VTE in the propositus (age, PE vs DVT, severity of VTE, type of hormonal exposure) on the risk of VTE in the first-degree relatives. --- G20210A ---

Primary Outcomes

Description: The primary outcome measure is defined by the presence of symptomatic venous thromboembolic disease in first degree relatives based on: objective, validated and standardized criteria or a validated and standardized questionnaire and leg ultrasound according to a validated algorithm

Measure: Presence of venous thromboembolic disease in first-degree relatives.

Time: 1 day

41 The Role of Prothrombin Gene and Methylenetetrahydrofolate Reductase(MTHFR) Gene Polymorphisms as Risk Factors for Recurrent Miscarriage

Recurrent miscarriage is a pregnancy loss before 20 weeks of gestation. The recurrent pregnancy loss(RPL) usually occurring in the first trimester of gestation and its rate is quite high (15-20% even in full reproductive period) . In 2012, the American Society for Reproductive Medicine Practice Committee issued a statement that defined recurrent pregnancy loss as a disease distinct from infertility defined by two or more failed consecutive pregnancies.approximately 40% of couples will have an etiology identified that could be associated with their loss.

NCT03209063
Conditions
  1. Recurrent Miscarriage
Interventions
  1. Diagnostic Test: polymerase chain reaction
MeSH:Abortion, Spontaneous Abortion, Habitual
HPO:Spontaneous abortion

40% of couples will have an etiology identified that could be associated with their loss.Thrombophilia is the tendency to develop thromboses due to inherited defects in the coagulation system.Thrombophilia was identified as a major cause of RPL,Because pregnancy is a hypercoagulable state, thromboembolism is the leading cause of antepartum and postpartum maternal mortality .The four most common genetic markers for thrombophilia are; prothrombin gene mutation(FII, G20210A), methylene tetra hydrofolate reductase mutations (MTHFR ,C677T and A1298C), factor V Leiden (FVL, G1691A) , and plasminogen activator inhibitor 1 (PAI-1) . --- G20210A ---

Prothrombin G20210A refers to a human gene mutation that increases the risk of blood clots . --- G20210A ---

Study was conducted to evaluate the frequency of PT20210 among healthy Egyptians, (1.06%) had PT20210 G-A mutation.The variant causes elevated plasma prothrombin levels (hyperprothrombinemia), Prothrombin is the precursor to thrombin, which plays a key role in causing blood to clot (blood coagulation).Prothrombin G20210A can thus contribute to a state of hypercoagulability . --- G20210A ---

Primary Outcomes

Description: using polymerase chain reaction Polymerase chain reaction

Measure: The study will compare the percentage of prothrombin gene and MTHFR gene polymorphisms in cases with recurrent miscarriage and healthy control group.

Time: 2 days

42 STUDY OF THE ADAMTS-13 LEVEL AS PREDICTIVE BIOMARKER FOR DEVELOPMENT OF PORTAL VEIN THROMBOSIS IN LIVER CIRRHOSIS

Patients with cirrhosis of viral etiology (HCV/HBV); Patients with cirrhosis of any other etiology (alcohol, idiopatic, autoimmune). Planned Number of cirrhotic subjects 200 patients Inclusion Criteria Subjects (18 yr old) with liver cirrhosis of any etiology, Exclusion Criteria All patients should not have hepatocellular carcinoma or other malignant tumors, they should not be treated with anticoagulant / antiplatelet agents, not affected by PVT already diagnosed and not suffering from congenital coagulation disorders (haemophilia A / B, von disease Willebrand, another congenital deficiency of coagulation factors) or severe thrombocytopenia (<30,000 Plt / μL). Subject has participated in another clinical study within 30 days prior to study enrollment or is scheduled to participate in another clinical study on cirrhosis Primary Objective To describe the prospective modification of ADAMTS-13 level and other coagulation variables (e.g. FVIII, VWF:Ag/VWF:act) in cirrhotic patients during 18 months from the enrolment and to verify their predictive role as biomarker of development of portal vein thrombosis (PVT) Secondary Objectives To describe prospectively the modification of ADAMTS-13 level as a function of the etiology of cirrhosis Statistical analysis The total duration of the study will be of 12 months. The sample size of 200 subjects will be selected as a feasible number of patients to be recruited in a period of six months. The patients will be consecutively enrolled and followed for 18 months. As a result, in a follow up period of 18 months about 20-25 cases of PVT are expected. Continuous variables will be expressed as means ± standard deviations. In addition to descriptive statistics (location parameters), univariate analysis will be performed on each parameter and development of PVT during the follow up period. In previous observational studies both 1) a reduced PV flow [prospectively] and 2) a reduction of ADAMTS-13 are significantly associated with PVT. These associations will be investigated prospectively and analyzed simultaneously by a multivariate analysis and ROC curve to establish the sensitivity and specificity of these parameters as predictors of PVT development. Analyses will be performed using available data

NCT03322696
Conditions
  1. C23.550.355
  2. C14.907.355.830.925
  3. C15.378.140.855.925
MeSH:Liver Cirrhosis Thrombosis Venous Thrombosis
HPO:Cirrhosis Deep venous thrombosis Hepatic fibrosis Venous thrombosis

FV Leiden R506Q and prothrombin G20210A genotyping of these polymorphisms was performed by using commercial kits based on PCR-RT-based method (from EliTechGroup S.p.A., Torino, Italy) on an automatic instrument (Model 7300, Applied Biosystem, Foster City, CA, USA). --- R506Q --- --- G20210A ---

Primary Outcomes

Description: Primary Endpoint To describe in a prospective way the association of both basal ADAMTS-13 level and portal vein flow with development of PVT in cirrhotic patients during 18 months from the enrolment. Measurement of ADAMTS-13 activity. ADAMTS-13 activity was measured in citrated plasma samples by a fluorescence resonance energy transfer (FRET)-based assay,

Measure: Association of portal vein thrombosis with ADAMTS13 activity

Time: 18 months

Secondary Outcomes

Description: The secondary objectives of analyzing the levels of ADAMTS-13 and VWF as a function of the etiology of cirrhosis will be further assessed only after a certified diagnosis of the particular etiologic of cirrhosis. In the case of HCV-associated cirrhosis also the genotype of HCV will be analyzed.

Measure: Analysis of ADAMTS-13 and VWF levels as a function of the etiology of cirrhosis.

Time: 18 months

43 Prediction of Recurrent Pregnancy Loss by a New Thrombophilia Based Genetic Risk Score

Recurrent pregnancy loss (RPL) is a clinical problem affecting 1-5% of couples of reproductive age. The contribution of thrombophilia to RPL is disputed. This controversy is partly due to low sensitivity of the genetic variants currently used to evaluate hereditary thrombophilia: the Leiden mutation (identified as rs6025) in the coagulation factor 5 (F5L) gene and mutation G20210A (identified as rs1799963) in the prothrombin (PT) gene. Our objective was to determine whether a wider algorithm that includes clinic and genetic variants associated with thrombophilia could be more useful in the prediction for RPL than FVL and PT alone.

NCT03336463
Conditions
  1. Miscarriage, Recurrent
MeSH:Abortion, Spontaneous Abortion, Habitual Thrombophilia
HPO:Hypercoagulability Spontaneous abortion

This controversy is partly due to low sensitivity of the genetic variants currently used to evaluate hereditary thrombophilia: the Leiden mutation (identified as rs6025) in the coagulation factor 5 (F5L) gene and mutation G20210A (identified as rs1799963) in the prothrombin (PT) gene. --- G20210A ---

This study hypothesize that the use of the Thrombo inCode® in the screening for hereditary thrombophilia in patients with recurrent pregnancy loss can improve the diagnostic sensitivity and predictive capacity of the routine genetic panel, based on FVL and G20210A PT. --- G20210A ---

The results produced from a single genetic analysis will allow comparison to the centres' routine protocol (FV Leiden and G20210A PT) with the complete Thrombo inCode® panel, that also includes the previously-mentioned classical variants. --- G20210A ---

Primary Outcomes

Description: Repeated clinical pregnancy loss and/or foetal death (≥ 2 consecutive or ≥ 3 non-consecutive) before the 20th weeks of pregnancy

Measure: Recurrent Pregnancy Loss

Time: 20 weeks

Description: Pregnancy with life-birth

Measure: Pregnancy at term

Time: 20 weeks

44 Influence of ABO Blood Group on the Risk of Complications in Alcoholic or Viral C Cirrhosis? Analysis From Two French Prospectives National Cohorts CIRRAL and CIRVIR of Patients With Alcoholic or Viral Cirrhosis Child Pugh A

The non-O blood group is a risk factor of deep vein thrombosis and recurrence of thromboembolic events, especially when associated with Factor 5 Leiden or prothrombin G20210A mutations. A recent study suggests that non-O blood group may promote portal vein thrombosis in non cirrhotic patients. In addition, in general population and chronic hepatitis C, non-O blood group combined with one or the other of the above genetic abnormalities is associated with an increased risk of liver fibrosis and accelerated fibrogenesis. The suspected mechanism could be an increased procoagulant factor VIII and an increased Willebrand plasma level, due to a low ADAMTS 13 activity, the result of which is an hypercoagulable state and a microthrombotic process. In cirrhotic patients procoagulant factors and ADAMTS 13 which are respectively increased and decreased, have be shown to be prognostic markers of hepatocellular function and portal hypertension. It has been hypothesized that the hypercoagulable state and the microthrombotic process could contribute to the worsening of the disease and enoxaparin has been shown to positively modify the prognosis of cirrhosis. The role of non-O blood group in decompensation of cirrhosis and occurrence of complications including non-tumor portal vein thrombosis has never been studied. The investigators plan a longitudinal observational study to determine the incidence of complications in alcoholic and viral cirrhosis in case of non-O blood group compared to O blood group. The aim of this study is to determine whether ABO blood group may promote complications in alcoholic or viral cirrhosis. This is an ancillary study of two national cohorts assessing natural history and hepatocellular carcinoma risk factors in alcoholic (CIRRAL) and viral (CIRVIR) cirrhosis.

NCT03342170
Conditions
  1. Alcoholic or Viral C Compensated Cirrhosis
Interventions
  1. Genetic: G20210A prothrombin gene mutation and Factor 5 Leiden mutation
MeSH:Liver Cirrhosis Fibrosis
HPO:Cirrhosis Hepatic fibrosis

The non-O blood group is a risk factor of deep vein thrombosis and recurrence of thromboembolic events, especially when associated with Factor 5 Leiden or prothrombin G20210A mutations. --- G20210A ---

Primary Outcomes

Description: patient follow up during 3 years

Measure: cumulated incidence of complications at 3 years

Time: from inclusion to 3 years

45 Dental Health in Recurrent Miscarriage

Oral infections can trigger the production of pro-inflammatory mediators that may be risk factors for miscarriage. The investigators investigated whether oral health care patterns that may promote or alleviate oral inflammation were associated with the history of miscarriage in Turkish women.

NCT03577314
Conditions
  1. Oral Health
  2. Miscarriage
Interventions
  1. Other: miscarriage
MeSH:Abortion, Spontaneous Abortion, Habitual
HPO:Spontaneous abortion

At least 8 weeks after termination of pregnancy, karyotype analysis of both couples and thrombophilia panel ( Factor V Leiden, prothrombin gene mutation G20210A, protein S/Protein C/antithrombin deficiency and MTHFR mutations) in the study group will be requested.. Dental Examination. --- G20210A ---

Primary Outcomes

Description: If abortion material is obtainable, it will be genetically evaluated for chromosomal abnormalities. At least 8 weeks after termination of pregnancy, karyotype analysis of both couples and thrombophilia panel ( Factor V Leiden, prothrombin gene mutation G20210A, protein S/Protein C/antithrombin deficiency and MTHFR mutations) in the study group will be requested.

Measure: recurrent miscarriage

Time: below 20th week of pregnancy

Secondary Outcomes

Description: All teeth were visually using the International Caries Detection and Assessment System (ICDAS-II). The chosen sites were recorded as: 0 = sound; = first visible sign of noncavitated lesion seen only when the tooth is dried; = visible noncavitated lesion seen when wet and dry; = microcavitation in enamel; = noncavitated lesion extending into dentine seen as an undermining shadow; = small cavitated lesion with visible dentine: less than 50% of surface; = large cavitated lesions with visible dentine in more than 50% of the surface.

Measure: Dental Examination

Time: 1 Day

Description: A single calibrated examiner measured probing depth-PD, 0: healthy bleeding calculus 3:3.5-5.5 mm 4: over 5.5 mm

Measure: Periodontal Examination

Time: 1 Day

Description: A single calibrated examiner measured clinical attachment level- CAL, 0: 0-3 mm 1:4-5 mm 2:6-8 mm 3:over 8mm 4: 9-11 mm 5: over 12 mm

Measure: Clinical attachment level

Time: 1 Day

Description: A single calibrated examiner measured plaque (Pl) 0:no plaque A film of plaque soft deposit s within the gingival pocket Abundance of soft matter within the gingival pocket

Measure: Plaque Examination

Time: 1 Day

Description: A single calibrated examiner measured gingival indices (GI) 0= Normal gingiva; Mild inflammation Moderate inflammation Severe inflammation

Measure: Gingival Examination

Time: 1 Day

Description: A single calibrated examiner measured bleeding on probing (BOP) 0: no bleeding 1: bleeding

Measure: Bleeding Examination

Time: 1 Day

46 APIDULCIS: Extended Anticoagulation With Low-dose Apixaban After a Standard Course Anticoagulation in Patients With a First Venous Thromboembolism Who Have Positive D-dimer

The study aims at optimizing the long-term and extended management of patients with a first episode of venous thromboembolism (proximal deep vein thrombosis with or without pulmonary embolism) (VTE). Patients at high risk of recurrence (with altered D-dimer test), who had received anticoagulation (whatever the drug used) for 12-15 months after the first episode of thrombosis, will be treated with Apixaban 2,5 mg x 2 for 18 months as extended treatment. Patients at low risk, with normal D-dimer test, will stop anticoagulation definitely.

NCT03678506
Conditions
  1. Venous Thromboembolism
  2. Anticoagulants
Interventions
  1. Drug: Apixaban
MeSH:Thromboembolism Venous Thromboembolism
HPO:Thromboembolism

inflammatory bowel disease) - Known serious thrombophilic alterations: - deficiencies of natural anticoagulants (Antithrombin, Protein C, Protein S) - homozygosity for Factor V Leiden or Factor II G20210A mutations - double heterozygosity - Presence of antiphospholipid syndrome - Presence of vein cava filter - Concomitant conditions (such as atrial fibrillation) requiring indefinite anticoagulation - Severe cardio-respiratory insufficiency (NYHA 3 or 4) - Any absolute contraindications to anticoagulation treatment - Any other contraindications to Apixaban as per local SmPC - Life expectancy shorter than 1 year - Refuse interruption of anticoagulation to perform serial D-dimer assessment - Geographically inaccessible location - Inability or refusal to give consent Inclusion Criteria: - First unprovoked Venous Thromboembolic Event - Venous Thromboembolic events associated with one or more risk factors that are no longer present - Age older than 18 or younger than 75 years - Capacity to give written informed consent Exclusion Criteria: - A) Exclusion criteria regarding the index event - Events usually associated with low risk of recurrence - Deep vein thrombosis/ Pulmonary embolism occurred within 3 months from major surgery or major trauma - Isolated Distal deep vein thrombosis (thrombosis of calf veins) - Events associated with a very high risk of recurrence or occurrence of life-threatening recurrent events - Pulmonary Embolism episode with shock or life-threatening - Isolated pulmonary embolism with a systolic pulmonary artery pressure > 60 mmHg at presentation - Deep vein thrombosis/ Pulmonary embolism associated with active cancer, antiphospholipid syndrome or long-standing medical illnesses - More than one idiopathic event - Index venous thromboembolic event in different sites than deep veins of the lower limbs or pulmonary arteries B) Exclusion criteria present at the moment of patients' screening: - Age younger than 18 or older than 75 years - More documented unprovoked venous thromboembolic episodes - Pregnancy or puerperium - Severe post-thrombotic syndrome (≥ 15 points at the Villalta score) - Solid neoplasia or blood disease in active phase or requiring chemotherapy/radiotherapy - All the clinical conditions requiring prolonged treatment with Low Molecular Weight Heparin - Presence of overt, active chronic diseases (i.e. --- G20210A ---

inflammatory bowel disease) - Known serious thrombophilic alterations: - deficiencies of natural anticoagulants (Antithrombin, Protein C, Protein S) - homozygosity for Factor V Leiden or Factor II G20210A mutations - double heterozygosity - Presence of antiphospholipid syndrome - Presence of vein cava filter - Concomitant conditions (such as atrial fibrillation) requiring indefinite anticoagulation - Severe cardio-respiratory insufficiency (NYHA 3 or 4) - Any absolute contraindications to anticoagulation treatment - Any other contraindications to Apixaban as per local SmPC - Life expectancy shorter than 1 year - Refuse interruption of anticoagulation to perform serial D-dimer assessment - Geographically inaccessible location - Inability or refusal to give consent Venous Thromboembolism Anticoagulants Thromboembolism Venous Thromboembolism This prospective cohort study aims to assess the efficacy and safety of a management procedure to decide on giving or not an extended anticoagulation (administering apixaban 2 2.5 mg twice daily ) to outpatients with a single episode of proximal deep vein thrombosis of the lower limbs and/or pulmonary embolism who had received 12-15 months of anticoagulation (whatever the anticoagulant drug used). --- G20210A ---

Primary Outcomes

Description: The occurrence of proximal deep vein thrombosis with or without pulmonary embolism (new or recurrent episode) wil be recorded in all patients

Measure: Number and rate of patients with confirmed recurrent VTE and VTE-related death (efficacy).

Time: From date of enrollment until the date of first documented event assessed up to 18 months

Description: Fatal bleeding; intracranial; intraspinal; intraocular; pericardial; intra-articular; intramuscular with compartment syndrome; retroperitoneal,; acute clinically overt bleeding will be recorded in all patients

Measure: Number and rate of major Bleeding events (defined according to International Society on Thrombosis and Haemostasis guidelines (safety)

Time: From date of enrollment until the date of first documented event assessed up to18 months

Secondary Outcomes

Description: Transient ischemic attack (TIA), Stroke, Myocardial infarction will be recorded in all patients

Measure: Number of and rate of thromboembolic events

Time: From date of enrollment until the date of first documented event assessed up to 18 months

Description: Patient with deep vein thrombosis as index event will be evaluated, at the and of follow-up, applying Villalta score, commonly used to diagnose post-thrombotic syndrome in the subacute phase of thrombosis. The presence of venous ulcer of the leg or a score > of 15 points indicate the occurrence of severe post-thrombotic syndrome. The maximum score is 33. The score from 5 to 9 points indicate mild post-thrombotic syndrome and from 10 to 15 points indicate moderate post-thrombotic syndrome

Measure: Presence of severe post-thrombotic syndrome according to Villalta Score

Time: 18 months

Description: In all patients will be recorded any sign or symptom of hemorrhage that does not fit the criteria for the definition of major bleeding but does meet at least one of the following criteria: 1)requiring medical intervention by a healthcare professional; 2) leading to hospitalization or increased level of care;3) prompting a face to face evaluation

Measure: Number and rate of non major bleeding complications

Time: From date of enrollment until the date of first documented event assessed up to18 months

Description: VTE-related death; cardiovascular related-death; bleeding-related death; death for: cancer, infectious disease and unknown cause; sudden death will be recorded in all patients

Measure: Number and rate of dead patients (overall mortality)

Time: From date of enrollment until the date of first documented event assessed up to 18 months

47 Phase I Study Evaluating Safety and Feasibility of Hematopoietic Stem Cell Gene Transfer That Targets Factor VIII Delivery From Platelets for Patients With Hemophilia A

This is a Phase I study. This research study is being conducted to find new ways to treat severe hemophilia A. This study is a gene therapy study. Gene therapy is an experimental way to introduce, into a person's cells, specific genetic material. A gene can be delivered/introduced into a cell using a carrier known as a "vector." In this study, a virus (lentivirus), the "vector", is used to introduce or deliver a gene that creates and stores a protein Factor VIII (FVIII) in your platelets. These platelets are made from stem cells (mother cells for your bone marrow) that are removed from your blood by a procedure called apheresis. This research study will take some of the patient's own stem cells, from the apheresis procedure, and genetically modify them using the vector in order to make them produce FVIII in platelets that arise from the stem cells. They will then give the genetically modified stem cells back to the patient so that they can possibly create platelets that produce and store Factor VIII on their own.

NCT03818763
Conditions
  1. Hemophilia A
Interventions
  1. Biological: Auto CD34+PBSC, transduced with a lentiviral vector encoding the B domain deleted from of human coagulation factor VIII
MeSH:Hemophilia A
HPO:Reduced factor VIII activity

Those with a known co-existing clinically significant thrombophilic disorder, or as determined by the presence of any of the below identified on screening laboratory assessments: - FV Leiden - Protein S deficiency - Protein C deficiency - Prothrombin mutation (G20210A) - D-dimer >3 x the upper limit of normal (ULN) at Screening All known patients with the above and any patient with a personal or significant family history of thrombotic events (DVT, PE, arterial clots) as deemed by the principal investigator will be screened for the above disorders. --- G20210A ---

Primary Outcomes

Description: Assessed by availability of ≥4x106 transduced clinical grade CD34+PBSC per kg meeting release criteria for infusion; undetectable microbiological contamination and cell viability ≥70%.

Measure: Number of enrolled participants with adequate gene transduced hematopoietic stem cells for FVIII gene therapy infusion

Time: Through study completion, an average of 4 years

Secondary Outcomes

Description: Number of events meeting CTCAE criteria grade 3 or 4 toxicity

Measure: Incidence of toxicity from gene therapy

Time: Within 3 months of gene therapy infusion

48 A Phase I, Randomized, Double-blind, Placebo-Controlled, Single Ascending Dose Study to Investigate the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MG1113 in Healthy Subjects and Hemophilia Patients

The purpose of this study is to assess the safety and tolerability of MG1113 in the single ascending dose study (IV injection or SC injection) in healthy subjects and hemophiia patients.

NCT03855696
Conditions
  1. Hemophilia
Interventions
  1. Biological: MG1113
  2. Other: Placebo of MG1113
MeSH:Hemophilia A
HPO:Reduced factor VIII activity

Any of the following results from laboratory tests: 1) AST (sGOT) or ALT (sGPT) >2 x UNL 2) Hb < 9.0 g/dL 3) Absolute Neutrophil Count < 1500 mm2 4) Platelet count < 100 x 103 mm2 5) aPTT, PT > 1.5 x UNL 6) Have hepatitis B (HBsAg positive) or C (anti-HCV positive), or have positive HIV test result 7) Creatinine clearance ≤80 mL/min (calculated by the Cockcroft-Gault formula) 7. Have a family history or be considered to be at risk of thromboembolic events, or have the following test results: 1) Antithrombin level ≤LNL 2) Protein C or S activity ≤LNL 3) Factor V Leiden mutation 4) Prothrombin G20210A mutation 8. Used ethical drugs including prescription drugs within 14 days of investigational product administration 9. Used drugs (over-the-counter drugs, herbal medicines, and nutritional agents and vitamins for the purpose of same efficacy) within 7 days of investigational product administration 10. --- G20210A ---

Primary Outcomes

Description: Adverse events such as subjective and objective symptoms

Measure: Adverse events

Time: Through study completion (~50 day)

Secondary Outcomes

Description: ADA [Anti-Drug Ab]

Measure: Immunogenicity assay

Time: Through study completion (~50 day)

Description: Cmax

Measure: Pharmacokinetic assessment - Cmax

Time: Through study completion (~50 day)

Description: Tmax

Measure: Pharmacokinetic assessment - Tmax

Time: Through study completion (~50 day)

Description: AUClast

Measure: Pharmacokinetic assessment - AUClast

Time: Through study completion (~50 day)

Description: AUCinf

Measure: Pharmacokinetic assessment - AUCinf

Time: Through study completion (~50 day)

Description: half-life

Measure: Pharmacokinetic assessment - half-life

Time: Through study completion (~50 day)

Description: CL/F (for SC)

Measure: Pharmacokinetic assessment - CL/F (for SC)

Time: Through study completion (~50 day)

Description: CL (for IV)

Measure: Pharmacokinetic assessment - CL (for IV)

Time: Through study completion (~50 day)

Description: Vd/F (for SC)

Measure: Pharmacokinetic assessment - Vd/F (for SC)

Time: Through study completion (~50 day)

Description: Vd (for IV)

Measure: Pharmacokinetic assessment - Vd (for IV)

Time: Through study completion (~50 day)

Description: Bioavailability (F) Bioavailability (F) = AUCinf (at SC dosing [3.3 mg/kg])/AUCinf (at IV dosing [3.3 mg/kg])

Measure: Pharmacokinetic assessment - Bioavailability (F)

Time: Through study completion (~50 day)

Description: Free TFPI in plasma (ng/mL)

Measure: Pharmacodynamic assessment - Free TFPI in plasma

Time: Through study completion (~50 day)

Description: Diluted PT (sec)

Measure: Pharmacodynamic assessment - Diluted PT

Time: Through study completion (~50 day)

Description: FXa activity

Measure: Pharmacodynamic assessment - FXa activity

Time: Through study completion (~50 day)

Description: Thrombin generation (lag time, peak generation, Endogenous thrombin generation potential [ETP])

Measure: Pharmacodynamic assessment - Thrombin generation

Time: Through study completion (~50 day)

Description: Pro-coagulant effect (D-dimer, Fibrinogen, prothrombin fragments 1+2)

Measure: Pharmacodynamic assessment - Pro-coagulant effect

Time: Through study completion (~50 day)

Description: Physical examination

Measure: Physical examination

Time: Through study completion (~50 day)

Description: The result for 12-lead ECG will be reported as Clinical Significant or Not-Clinical Significant. Ventricular rate in beat/min Interval for PR in msec QRS in msec QTc in msec

Measure: Incidence of participant abnormalities in 12-lead ECG (Ventricular rate in beat/min, Interval for PR in msec, QRS in msec, QTc in msec) for physiological parameter

Time: Through study completion (~50 day)

Description: Vital signs - blood pressure (Systolic, Diastolic)

Measure: Vital signs - blood pressure (Systolic, Diastolic)

Time: Through study completion (~50 day)

Description: Vital signs - pulse rate

Measure: Vital signs - pulse rate

Time: Through study completion (~50 day)

Description: Vital signs - body temperature

Measure: Vital signs - body temperature

Time: Through study completion (~50 day)

Description: Bleeding evaluation (only for hemophilia patients) by questionnaire; Occurrence date, Persistence in yes or no questionnaire, Causes (blood in naturally occurring/Traumatic bleeding), Severity (mild/moderate/Severe)

Measure: Frequency of Bleeding (only for hemophilia patients)

Time: Through study completion (~50 day)

Description: Pain or tenderness, itching, rash, redness (in mm), and induration (in mm) will be reported. Local stimulation test in injection site: Occurrence date, Persistence, Causes, Severity (mild/moderate/Severe) The occurrence of pain or tenderness, itching and rash will be reported by Yes or No questionnaire. The size of redness and induration will be measured in millmeters(mm).

Measure: Local reaction in injection site

Time: Through study completion (~50 day)

Description: Parameters for laboratory tests include Hematology(WBC in 10**3/mcL, Neutrophils in %, ANC in mcL, Lymphosyte in %, Monocyte in %, Eosinophils in %, Basophils in %, RBC in 10**6/mcL, Hemoglobin in g/dL, Hematocrit in %, MCV in fL, MCHin pg, MCHC in g/dL, Plstelets in 10**3/mcL, MPV in fL), Clinical chemistry(Glucose in mg/dL, BUN in mg/dL, Uric adic in mg/dL, Total cholesterol in mg/dL, Triglyceride in mg/dL, Protein, Albumin in g/dL, Total bilirubin in mg/dL, Alkaline phosphatase in IU/L, AST in IU/L, ALT in IU/L, r-GT in IU/L, LDH in IU/L, Serum creatinine in mg/dL, Na in mmol/L, K in mmol/L, Cl in mmol/L, CPK in IU/L, Troponin I in ng/mL, Troponin T in ng/mL), Urinalysis(These values are reported only as a number; Specific garavity, Color, pH, Protein, Glucose, Ketone, Bilirubin, Blood, Urobilinogen, Nitrite, WBC, Squma EP cell, Casts, Crystal, Clarity, RBC) Blood coagulation test (aPTT in sec, PT in sec, Fibronogen in mg/dL, Antithrombon III in %, Protein C in %, Protein S in %)

Measure: Incidence of participant abnormalities in laboratory tests by physiological parameter (Hematology, clinical chemistry, urinalysis, and blood)

Time: Through study completion (~50 day)

49 Retrospective Study of the Prevalence of Antiphospholipid Antibodies in the Population of Hemodialysis Patients at the CHU Brugmann Hospital

In patients with a chronic renal disease at the terminal stage, extrarenal epuration is essential for the control of clinico-biological complications. Two extrarenal epuration techniques are currently available: peritoneal dialysis (using the peritoneal membrane of the patient) and hemodialysis, requiring the use of an external biocompatible membrane known as 'dialysis filter'. This technique requires a vascular access (arteriovenous fistula or dialysis catheter). The thrombosis of vascular accesses represents a major cause of morbidity and mortality in hemodialysis patients. Thrombosis are more frequent when using synthetic prosthetic arteriovenous fistula instead of native arteriovenous fistula. Antiphospholipid Syndrome (APLS) is a rare autoimmune disease characterized by arterial thrombosis, venous thrombosis and obstetrical complications such as as defined by the Sidney's criteria. In the general population, the presence of antiphospholipid antibodies is associated with an increased risk of thromboembolic events. In the nephrological population, this prevalence is higher in hemodialysis patients compared to patients on peritoneal dialysis or non-dialyzed patients. Up to 37% of hemodialysis patients are positive for antiphospholipid antibodies and this biology is associated with thrombotic events and vascular access thromboses. However, some studies do not report this association and there is currently no consensus in terms of the therapeutic management of these patients. Some factors influencing the positivity for antiphospholipid antibodies have been reported: smoking, age, the presence of a non-glomerular nephropathy, hypoalbuminaemia, the use of a central venous catheter for dialysis or the use of a non-biocompatible dialysis membrane. Taking into account the conflicting data from the literature, it seems important to study the respective role(s) of 3 types of antiphospholipid antibodies in the occurrence of thrombo- embolic events in patients undergoing dialysis within the CHU Brugmann Hospital.

NCT03893357
Conditions
  1. Antiphospholipid Syndrome
Interventions
  1. Other: Data extraction from medical files
MeSH:Antiphospholipid Syndrome

Inclusion Criteria: - All patients undergoing dialysis within the CHU Brugmann Hospital Exclusion Criteria: - Mutation of factor V - Mutation G20210A of the prothrombin gene - Protein C deficiency - Protein S deficiency - Antithrombin III deficiency Inclusion Criteria: - All patients undergoing dialysis within the CHU Brugmann Hospital Exclusion Criteria: - Mutation of factor V - Mutation G20210A of the prothrombin gene - Protein C deficiency - Protein S deficiency - Antithrombin III deficiency Antiphospholipid Syndrome Antiphospholipid Syndrome null --- G20210A ---

Inclusion Criteria: - All patients undergoing dialysis within the CHU Brugmann Hospital Exclusion Criteria: - Mutation of factor V - Mutation G20210A of the prothrombin gene - Protein C deficiency - Protein S deficiency - Antithrombin III deficiency Inclusion Criteria: - All patients undergoing dialysis within the CHU Brugmann Hospital Exclusion Criteria: - Mutation of factor V - Mutation G20210A of the prothrombin gene - Protein C deficiency - Protein S deficiency - Antithrombin III deficiency Antiphospholipid Syndrome Antiphospholipid Syndrome null --- G20210A --- --- G20210A ---

Primary Outcomes

Description: Prevalence of antiphospholipid antibodies

Measure: Prevalence of antiphospholipid antibodies

Time: 19 years

Description: Prevalence of arterial thrombosis

Measure: Prevalence of arterial thrombosis

Time: 19 years

Description: Prevalence of venous thrombosis

Measure: Prevalence of venous thrombosis

Time: 19 years

Description: Maturation delay of the arteriovenous fistula

Measure: Maturation delay of the arteriovenous fistula

Time: 19 years

Description: Percentage of thrombosis of the filter

Measure: Percentage of thrombosis of the filter

Time: 19 years

Description: Lifespan of the catheter

Measure: Lifespan of the catheter

Time: 19 years

Description: Lifespan of the fistula

Measure: Lifespan of the fistula

Time: 19 years

Secondary Outcomes

Description: Existence of at least one of the following pro-thrombotic risk factors: smoking, active neoplasia, arterial hypertension.

Measure: Existence of thrombosis risk factors

Time: 19 years

Description: Existence of an anticoagulant treatment Presence of an anticoagulant treatment by means of anti-vitamin K

Measure: Anticoagulant treatment

Time: 19 years

Description: Existence of an antiplatelet treatment

Measure: Antiplatelet treatment Antiplatelet treatment

Time: 19 years

Description: Existence of an antihypertensive treatment

Measure: Antihypertensive treatment

Time: 19 years

Description: Existence of a treatment by means of statins

Measure: Statin treatment

Time: 19 years

Description: Known versus unknown ethiology

Measure: Ethiology of the nephropathy (known/unknown)

Time: 19 years

Description: Glomerular versus non-glomerular ethiology

Measure: Ethiology of the nephropathy (glomerular)

Time: 19 years

Description: Age at dialysis entry

Measure: Age at dialysis entry

Time: 19 years

Description: Catheter versus distal arteriovenous fistula versus proximal arteriovenous fistula

Measure: Vascular access

Time: 19 years

Description: Hemodiafiltration versus conventional hemodialysis

Measure: Type of dialysis

Time: 19 years

Description: With or without heparin

Measure: Type of per-dialytic anticoagulation

Time: 19 years

Description: Brand of dialysis membrane

Measure: Brand of dialysis membrane

Time: 19 years

Description: Urea change percentage

Measure: Urea change percentage

Time: Last available result within 19 years

Description: Coagulation assessment

Measure: Activated partial thromboplastin time (aPTT)

Time: Last available result within 19 years

Description: Hemoglobin count

Measure: Hemoglobin count

Time: Last available result within 19 years

Description: Platelets count

Measure: Platelets count

Time: Last available result within 19 years

50 Markers of Microvascular Lesion in Adult Patients With Acquired Sudden Cochelo-vestibular Deficiency

The roles of thrombophilia and cardiovascular risk factors in sudden sensorineural hearing loss (SSNHL) remain controversial. Cochlear micro-thrombosis has been hypothesized as a possible pathogenic mechanism of SSNHL. The objective was thus to measure the levels of markers of macrovascular thrombosis and microvascular risk factors

NCT03919474
Conditions
  1. Idiopathic SSNHL
  2. Age Over 18
Interventions
  1. Diagnostic Test: microvascular markers
MeSH:Hearing Loss
HPO:Hearing impairment

Thrombophilia screening included measurements of antithrombin , protein C, protein S, factor V Leiden, prothrombin G20210A, methylene tetrahydrofolate reductase (MTHFR) C677T, antiphospholipid antibodies anticardiolipin IgG and IgM and anti-beta2 glycoprotein 1 IgG), dilute Russell viper venom time , Rosner index, factor VIII, von Willebrand factor (vWF) activity and antigen. --- G20210A ---

Primary Outcomes

Description: plasma serotonin level (HPLC, frequent value <15nM)

Measure: change from Baseline of plasma serotonin at three months

Time: at three months and then once a year up to five years

Description: plasma homocystein (HPLC, fequent value <15 µM)

Measure: change from Baseline of plasma homocystein at three months

Time: at three months and then once a year up to five years

Description: serum anticardiolipin antiboy (ELISA, frequent value <10units)

Measure: change from Baseline serum of anticardiolipine antibody at three months

Time: at three months and then once a year up to five years

Secondary Outcomes

Description: audiogram

Measure: change from Baseline of hearing characteristics at three months

Time: at three months and then once a year up to five years

51 A Randomized, Multicenter, Double-Blind, Placebo Controlled, Phase 2 Study to Evaluate the Efficacy and Safety of IgPro10 (Intravenous Immunoglobulin, Privigen®) for the Treatment of Adults With Systemic Sclerosis

This randomized, multicenter, double-blind (DB), placebo controlled, phase 2 study will evaluate the efficacy and safety of IgPro10. The DB Treatment Period will be followed by a 24-week Open-label (OL) Treatment Period. Eligible subjects will be randomized at Baseline in a 2:1 ratio of treatment IgPro10 or placebo in the DB Treatment Period. All subjects who enter OL Treatment Period will receive IgPro10.

NCT04138485
Conditions
  1. Diffuse Cutaneous Systemic Sclerosis
Interventions
  1. Biological: IgPro10
  2. Biological: Placebo
MeSH:Scleroderma, Systemic Scleroderma, Diffuse Sclerosis

- History of documented thrombotic episode eg, PE, DVT, myocardial infarction, thromboembolic stroke at any time Note: past superficial thrombophlebitis more than two years from Screening is not exclusionary - Documented thrombophilic abnormalities including blood hyperviscosity, protein S or protein C deficiency, anti-thrombin-3 deficiency, plasminogen deficiency, antiphospholipid syndrome, Factor V Leiden mutation, dysfibrinogenemia, or prothrombin G20210A mutation - Greater than 3 specified current risk factors for TEEs (documented and currents conditions): atrial fibrillation, coronary disease, diabetes mellitus, dyslipidemia, hypertension, obesity (Body Mass Index ≥ 30 kg/m2), recent significant trauma, and immobility (wheelchair-bound or bedridden) - Ongoing active serious infection at Screening (including, but not limited to, pneumonia, bacteremia/septicemia, osteomyelitis/septic arthritis, bacterial meningitis, or visceral abscess) - Malignancy in the past 2 years, except for non-melanoma skin cancer, cervical carcinoma in situ, or other in situ cancer if it has been excised and treated within in the past year - Known hypoalbuminemia, protein-losing enteropathies, and any proteinuria (defined by total urine protein concentration > 0.2 g/L) - Known IgA deficiency or serum IgA level < 5% lower limit of normal Inclusion Criteria: - 1. Age ≥18 years (male or female) at time of providing written informed consent - Documented diagnosis of SSc according to ACR / EULAR criteria 2013 - mRSS ≥ 15 and ≤ 45 - Disease duration ≤ 5 years defined as the time from the first non-Raynaud's phenomenon manifestation - Subjects within first 18 months of disease duration from first non-Raynaud's phenomenon manifestation. --- G20210A ---

- History of documented thrombotic episode eg, PE, DVT, myocardial infarction, thromboembolic stroke at any time Note: past superficial thrombophlebitis more than two years from Screening is not exclusionary - Documented thrombophilic abnormalities including blood hyperviscosity, protein S or protein C deficiency, anti-thrombin-3 deficiency, plasminogen deficiency, antiphospholipid syndrome, Factor V Leiden mutation, dysfibrinogenemia, or prothrombin G20210A mutation - Greater than 3 specified current risk factors for TEEs (documented and currents conditions): atrial fibrillation, coronary disease, diabetes mellitus, dyslipidemia, hypertension, obesity (Body Mass Index ≥ 30 kg/m2), recent significant trauma, and immobility (wheelchair-bound or bedridden) - Ongoing active serious infection at Screening (including, but not limited to, pneumonia, bacteremia/septicemia, osteomyelitis/septic arthritis, bacterial meningitis, or visceral abscess) - Malignancy in the past 2 years, except for non-melanoma skin cancer, cervical carcinoma in situ, or other in situ cancer if it has been excised and treated within in the past year - Known hypoalbuminemia, protein-losing enteropathies, and any proteinuria (defined by total urine protein concentration > 0.2 g/L) - Known IgA deficiency or serum IgA level < 5% lower limit of normal Diffuse Cutaneous Systemic Sclerosis Scleroderma, Systemic Scleroderma, Diffuse Sclerosis null --- G20210A ---

Primary Outcomes

Measure: Response on American College of Rheumatology Combined Response Index in Diffuse Systemic Sclerosis (ACR CRISS) score in IgPro10 vs Placebo

Time: Over 48 weeks

Secondary Outcomes

Measure: Proportion of subjects meeting cardiopulmonary or renal failure criteria in ACR CRISS Step 1 events

Time: Over 48 weeks

Measure: Proportion of responders (ACR CRISS > 0.6)

Time: Over 48 weeks

Measure: Mean change from Baseline in Modified Rodnan Skin Score (mRSS)

Time: Baseline and over48 weeks

Measure: Mean change from Baseline in Health Assessment Questionnaire - Disability Index (HAQ-DI)

Time: Baseline and over 48 weeks

Measure: Mean change from Baseline in Forced Vital Capacity (FVC)% predicted

Time: Baseline and over 48 weeks

Measure: Mean change from Baseline in diffusing capacity of lung for carbon monoxide (DLCO)% predicted

Time: Baseline and over 48 weeks

Description: MDGA evaluates the overall impact of SSc on the participant as assessed by the physician on a 11-point Numeric rating scale scale from 0 (excellent) to 10 (extremely poor)

Measure: Mean change from Baseline in Physician Global Assessment (MDGA)

Time: Baseline and over 48 weeks

Description: PGA evaluates the overall impact of SSc on the participant as assessed by the physician on a 11-point Numeric rating scale scale from 0 (excellent) to 10 (extremely poor)

Measure: Mean change from Baseline in Patient Global Assessment (PGA)

Time: Baseline and over 48 weeks

Description: This survey consists of 34 questions and items are scored on a scale of 0 (better health) to 3 (worse health). Scores are combined to form total score.

Measure: Mean change from Baseline in UCLA Scleroderma Clinical Trial Consortium Gastrointestinal Tract 2.0 (UCLA SCTC GIT 2.0) total score and subscale

Time: Baseline and over 48 weeks

Measure: Mean change from Baseline in Scleroderma Skin Patient Reported Outcome (SSPRO) score in IgPro10 vs Placebo

Time: Baseline and up to 48 weeks

Description: Response is decrease of mRSS ≥ 5 points and change of ≥ 25% from Baseline in IgPro10 vs Placebo

Measure: Proportion of responders in mRSS

Time: Up to 48 weeks

Description: Treatment failure - defined as occurrence of SSc associated complications in ACR CRISS step 1 events, digital ischemia (requiring hospitalization for IV prostacyclin, surgical intervention or amputation), serious gastrointestinal events (events requiring parenteral nutrition due to SSc -such as total parenteral nutrition or enteral nutrition), all-cause mortality

Measure: Time to treatment failure (time from first infusion to time of first event) in IgPro10 vs Placebo

Time: Over 48 weeks

Description: Events defined as occurrence of SSc associated complications in ACR CRISS step 1 events, digital ischemia (requiring hospitalization for IV prostacyclin, surgical intervention or amputation), serious gastrointestinal events (events requiring parenteral nutrition due to SSc -such as total parenteral nutrition or enteral nutrition), all -cause mortality

Measure: Proportion of subjects with events at Week 48 in IgPro10 vs Placebo

Time: Over 48 weeks

Measure: Mean change from Baseline in Cochin Hand Function Scale in IgPro10 vs Placebo

Time: Baseline and over 48 weeks

Measure: Mean change from Baseline in Scleroderma Health Assessment Questionnaire (SHAQ) score in IgPro10 vs Placebo

Time: Baseline and over 48 weeks

Measure: Mean change from baseline in muscle strength as measured by Manual Muscle Testing 8 (MMT) in IgPro10 vs Placebo

Time: Baseline and over 48 weeks

Measure: Number of subjects with adverse events (AEs) including any AEs, treatment-emergent AEs (TEAEs), serious AEs (SAEs), and AEs of special interest (AESIs)

Time: Over 48 weeks

Measure: Percentage of subjects with AEs, TEAEs, SAEs, AESIs

Time: Over 48 weeks

Measure: Concentration of serum trough IgG levels at Baseline and prior to first infusion

Time: Baseline and up to 72 weeks

Measure: Mean change from Baseline in Modified Rodnan skin score (mRSS)

Time: Baseline and over 72 weeks

Measure: Mean change from Baseline in Patient global assessment (PGA)

Time: Baseline and over 72 weeks

Measure: Proportion of responders (ACR CRISS > 0.6)

Time: Over 72 weeks

Measure: Mean change from Baseline in Health Assessment Questionnaire - Disability Index (HAQ-DI)

Time: Baseline and over 72 weeks

Measure: Mean change from Baseline in Forced Vital Capacity (FVC)% predicted

Time: Baseline and over 72 weeks

Measure: Mean change from Baseline in diffusing capacity of lung for carbon monoxide (DLCO)% predicted

Time: Baseline and over 72 weeks

Measure: Mean change from Baseline in Physician Global Assessment (MDGA)

Time: Baseline and over 72 weeks

Measure: Number of subjects with adverse events (AEs) including any AEs, treatment-emergent AEs (TEAEs), serious AEs (SAEs), and AEs of special interest (AESIs)

Time: Over 72 weeks

Measure: Percentage of subjects with AEs, TEAEs, SAEs, AESIs

Time: Over 72 weeks

52 Efficacy and Safety of Dabigatran in Patients With Cirrhosis and Portal Vein Thrombosis-A Randomized Placebo Controlled Trial

A randomized controlled trial to study the efficacy and safety of Dabigatran in Cirrhotic patients who develop PVT.In this study the patients who meet the inclusion criteria will be randomized to either receive Dabigatran or placebo [multivitamin tablet]. Blood samples will be taken &Imaging will be done accordingly to notice progression or recanalization of PVT.The patients are followed up every 2 months up to 18 month .Then statistical analysis will be done to find whether the Dabigatran is efficacious in cirrhotic patients for recanalization of PVT.

NCT04433481
Conditions
  1. Liver Cirrhosis
  2. Portal Vein Thrombosis
Interventions
  1. Drug: Dabigatran
  2. Other: Placebo
MeSH:Liver Cirrhosis Thrombosis Venous Thrombosis Fibrosis
HPO:Cirrhosis Deep venous thrombosis Hepatic fibrosis Venous thrombosis

All included patients will be evaluated with - 1. Etiology of cirrhosis 2. Upper GI endoscopy 3. Haemogram (including reticulocyte count) 4. Coagulogram- PT/INR,APTT,TEG 5. Prothrombotic profile- protein c/protein-s/AT-III/Factor V Leiden mutation/ MTHFR C677T/PROTHROMBIN G20210A/ JAK2 V617F MUTATION / Anticardiolipin Ab. 6. Liver function tests, Renal function tests 7. Alpha fetoprotein/PIVKA II 8. USG abdomen with Doppler study 9. CECT-TP or CEMRI-TP to R/O HCC or angiography when PVT diagnosis doubtful. --- C677T --- --- G20210A ---

Primary Outcomes

Measure: Number of participants with complete recanalization of thrombus in both groups.

Time: 1 year

Secondary Outcomes

Measure: Number of participants with partial recanalization of thrombus in both groups.

Time: 1 Year

Measure: Number of participants with improvements in Child-Turcotte-Pugh (CTP) in both groups.

Time: 6 months

Measure: Number of participants with improvements in Child-Turcotte-Pugh (CTP) in both groups.

Time: 1 year

Description: MELD score ranges from 6 to 40.

Measure: Improvements in Model for End Stage Liver Disease (MELD) Score in both groups

Time: 6 months

Description: MELD score ranges from 6 to 40.

Measure: Improvements in Model for End Stage Liver Disease (MELD) Score in both groups

Time: 1 Year

Measure: Number of participants with prevention of secondary decompensation in both groups

Time: 1 Year

Measure: Adverse Events in both groups

Time: 1 year

Measure: To study the changes in coagulation parameters by ROTEM(Rotational Thrombo Elastometry) analysis which includes CFT(clot formation time).

Time: 6 Months

Measure: To study the changes in coagulation parameters by ROTEM(Rotational Thrombo Elastometry) analysis which includes CFT(clot formation time).

Time: 12 Months

Measure: Number of participants with reduction in clinical complications in patients with PVT in both groups

Time: 3 Months

Measure: Number of participants with reduction in clinical complications in patients with PVT in both groups

Time: 6 Months

Measure: Number of participants with reduction in clinical complications in patients with PVT in both groups

Time: 12 Months

Measure: To study the number of participants developing reoccurrence of PVT after treatment with Dabigatran for 12 months by Ultrasound Doppler of splenoportal venous system.

Time: 12 months

53 Investigating the Involvement of ACE and Angiotensinogen Genes' Polymorphism Along With Other Thrombophilic Genotypes in Severe Forms of COVID-19 With/Without Thrombotic Events

An estimated 22% of the global population is at an increased risk of a severe form of COVID-19, while one in four coronavirus patients admitted to intensive care unit will develop a pulmonary embolism. A major public health question remains to be investigated: why COVID-19 is mild for some, critically severe for others and why only a percentage of COVID-19 patients develop thrombosis, despite the disease's proven hypercoagulable state? Patients' intrinsic characteristics might be responsible for the deep variety of disease forms. Our study aims to assess the validity of the hypothesis according to which underlining genetic variations might be responsible for different degrees of severity and thrombotic events risks in the novel coronavirus disease. Moreover, we suspect that prothrombotic genotypes occuring in the genes that encode angiotensin-converting enzyme (ACE-DEL/INS) and angiotensinogen (AGT M235T) are involved in the unpredictable evolution of COVID-19, both in terms of severity and thrombotic events, due to the strong interactions of SARS-CoV-2 with the renin-angiotensin-aldosterone system (RAAS). Therefore, we also aim to assess the validity of the theory according to which there is a pre-existing atypical modulation of RAAS in COVID-19 patients that develop severe forms and/or thrombosis. Our hypothesis is based on various observations. Firstly, there is a substantial similarity with a reasonably related condition such as sepsis, for which there is a validated theory stating that thrombophilic mutations affect patients' clinical response. Secondly, racial and ethnic genetic differences are responsible for significant dissimilar thrombotic risks among various nations. Thirdly, an increase in stroke incidence has been reported in young patients with COVID-19, without essential thrombosis risk factors, favoring the idea that a genetic predisposition could contribute to increase the thrombotic and thromboembolic risk. Fourthly, the plasminogen activator inhibitor (PAI)-1 4G/5G inherited mutation was found to be responsible for a thrombotic state causing post-SARS osteonecrosis.

NCT04519398
Conditions
  1. Covid19
  2. Corona Virus Infection
  3. Thrombosis
  4. ARDS
  5. Thrombophilia
  6. Thromboses, Intracranial
  7. Thromboses, Deep Vein
  8. RAAS
Interventions
  1. Genetic: Complete thrombophilic profile testing by multiplex PCR
MeSH:Coronavirus Infections Severe Acute Respiratory Syndrome Intracranial Thrombosis Thrombosis Venous Thrombosis Thrombophilia
HPO:Deep venous thrombosis Hypercoagulability Venous thrombosis

Inclusion Criteria: - All hospitalized patients with cough, fever, myalgia - with confirmed COVID-19 infection • All patients with a positive SARS-CoV-2 PCR test Exclusion Criteria: - Patient refusal - Uncertain tests results - Children Inclusion Criteria: - All hospitalized patients with cough, fever, myalgia - with confirmed COVID-19 infection • All patients with a positive SARS-CoV-2 PCR test Exclusion Criteria: - Patient refusal - Uncertain tests results - Children Covid19 Corona Virus Infection Thrombosis ARDS Thrombophilia Thromboses, Intracranial Thromboses, Deep Vein RAAS Coronavirus Infections Severe Acute Respiratory Syndrome Intracranial Thrombosis Thrombosis Venous Thrombosis Thrombophilia The study's protocol will cover the following steps: • Collected data from COVID-19 patients at admission will include: - Descriptive general demographic data - Previous pathologies and thrombosis risk factors - Routine biological data (the blood routinely collected will also be used for SARS-Cov-2 specific RT-PCR exam) Complete thrombophilic profile testing by multiplex PCR and reverse hybridization of DNA to assess the presence of prothrombotic genotypes: - Factor V Leiden - Factor V 4070 A G (Hr2) - Factor II G20210A - Methylenetetrahydrofolate reductase (MTHFR) C677T - MTHFR A1298C - Cystathionine β-synthase (CBS) 844ins68 - PAI-1 4G/5G - Glycoprotein IIIa T1565C (HPA-1a/b) - ACE-DEL/INS - Apolipoprotein E (ApoE) - AGT M235T - Angiotensin II type 1 receptor (ATR-1) A1166C - Fibrinogen - 455 G A - Factor XIII Val34Leu SpO2, respiratory rate, PaO2/FiO2 RAAS components - Imagistic procedures (chest X-ray or CT) - All patients with a positive SARS-CoV-2 PCR test will be included - Patients will be divided into three groups depending on disease severity and the presence of thrombotic state: - 1st group includes COVID-19 patients with proved - venous thrombosis (deep vein thrombosis, pulmonary embolism or venous thrombosis occurring in more atypical places such as in the veins of the brain, liver, kidney, mesenteric vein and the veins of the arms) - or arterial thrombosis (heart attacks, strokes) - 2nd group encompasses asymptomatic patients and those with mild or moderate disease, according to current guidelines, without thrombosis: no symptoms or evidence of lower respiratory disease by clinical assessment or imaging and a SpO2 ≥ 94% - 3rd group includes severe disease, according to current guidelines, without thrombosis: respiratory frequency > 30 breaths per minute, SpO2 < 94%, PaO2/FiO2 < 300 mmHg, or lung infiltrates >50% - Statistical methods will be employed to check for significant differences between prothrombotic mutations frequency and RAAS components levels for the three groups --- G20210A ---

Primary Outcomes

Description: The difference of prothrombotic genotypes frequency between the three groups

Measure: Number of patients with thrombophilic profile alterations

Time: One year

Secondary Outcomes

Description: The differences of RAAS components levels between the three groups

Measure: Number of patients with RAAS components alterations

Time: One year


HPO Nodes


HP:0001873: Thrombocytopenia
Genes 445
DKC1 RBM8A IVD CDC42 RPS19 RNASEH2A MMUT RNASEH2C CD81 COG4 NABP1 GATA1 NUMA1 DLL4 TERC USP18 VWF FANCB FCGR2B GBA GP1BB FANCI FANCC SEC24C NBEAL2 DHFR TINF2 SMARCD2 GATA1 SLX4 MPIG6B KMT2D SMARCAL1 OCRL PRF1 ETV6 JAK2 PRF1 RAD51 JMJD1C VPS33A UFD1 STAT5B GFI1B ERCC4 GP1BA RAG1 PRKCD MAD2L2 SPATA5 LYST HOXA11 FANCG WAS FANCL SF3B1 APOE GNA14 TNFSF11 ITGB3 GATA1 MYORG NRAS ACP5 FIP1L1 ITK BRAF MECOM COL4A5 SLC35A1 CALR MMAA SLC46A1 VPS33A RASGRP1 LYST ANKRD26 HOXA11 XIAP RPL15 DNAJC21 NBN RPL35A GBA RTEL1 PSMB8 RPS15A TINF2 FANCE FCGR2A UROS WRAP53 BCR HLA-B UQCRFS1 TNFRSF13C ARHGEF1 RPL26 SBDS GATA1 CD40LG PDGFRB RPS27 IFNG FANCM FASLG SMARCAL1 ATRX CFHR3 TNFAIP3 FOXP3 MECOM SLC19A2 GP1BA DNASE1 NIPBL FLT1 HLCS PARN MAP2K1 SCARB2 IFIH1 ANKRD11 NOP10 ZAP70 ITGB3 STT3B FANCG ITGA2 HYOU1 GBA SLC19A2 PSMB9 RPS19 PLAU FAS CFB NHP2 ARHGAP31 G6PC3 MS4A1 CD19 FLI1 SRC LMBRD1 CYCS SAMD9 GALC PRKACG PRDX1 HPS5 POMP TMEM165 MMACHC RNASEH2C RBM8A PDGFB DIAPH1 ITGA2B RUNX1 TET2 FANCD2 TBL1XR1 STT3B NFKB2 MPL PEPD OCLN SC5D HELLPAR ADAMTS13 THBD RFX5 STAT2 PALB2 PSMB4 LAT STX11 IRAK1 CD109 ABCD4 LIG4 MTOR CA2 WARS2 RAG2 CTLA4 TERT EFL1 CIITA AP3B1 MYSM1 SARS2 BTK GATA1 RNASEH2B CFHR1 GP1BA BTNL2 FOXP3 NOP10 TBXAS1 RPS29 TET2 FANCB OSTM1 TSR2 RPL11 TCN2 SAMHD1 GP1BB DKC1 TPP2 NSUN2 C3 RRAS2 TERT TNFSF12 PRKCD STIM1 RASGRP1 PTPN22 STIM1 CTC1 KRAS RPS26 RBPJ NHEJ1 LIG4 ZBTB16 CFH DNAJC21 GATA1 SAMHD1 PCCA CDC42 RPL5 ESCO2 STAT1 ADA2 SCARB2 TERT GP9 STAT4 GBA RREB1 RAD51C GP1BA ARVCF NFKB1 UBE2T TBX1 LRBA FANCF RFXAP MYH9 CFH GFI1B ADAR MMUT FLNA GP9 FANCD2 VPS45 FASLG AGK GATA2 STOX1 ICOS BLOC1S6 ERCC6L2 KIF15 XRCC2 TET2 CLCN7 WAS GUCY1A1 RPS7 SPP1 NBEAL2 BRIP1 TALDO1 FCGR2C LBR PTPN11 ACTN1 KDM6A PRKCD NHP2 SLC7A7 JAK2 MYSM1 CORIN CD46 RAG2 DKC1 SPATA5 VWF BCOR SMPD1 DGUOK RARA NLRC4 EOGT FARS2 PARN COG1 FYB1 HLCS NPM1 FANCF SLC20A2 MMAB GBA DGKE ACAD9 BRCA1 ADA SLFN14 FANCC NOTCH1 WFS1 IFIH1 PSAP CR2 IKZF1 UBE2T SRP54 RFXANK MPL SLC35A1 STAT3 RPL27 WDR1 APOE TREX1 PNP ABL1 STAT3 SH2D1A WIPF1 GATA1 MYH9 RPS24 RPL35 CTC1 RPS17 FAS ACAD9 RNASEH2A COMT TBX1 DCLRE1C ASAH1 SBDS CFI MVK NOS3 TET2 NFKB2 COG6 TERC PHGDH FLI1 CD36 SNX10 SAMD9L GP1BB ITGA2B GBA TNFRSF13B ARPC1B LARS2 SP110 FANCA MAD2L2 SBDS PNP PKHD1 NHP2 FAS MPL ACP5 TNFRSF11A RFWD3 FANCE TERT DZIP1L TFRC RPL31 CD81 XPR1 RTEL1 TUBB1 RPL18 PRKAR1A FANCA TERC NFKB1 ABCA1 TREX1 ELANE NPM1 TALDO1 BRCA2 IRF2BP2 SRP54 TINF2 PML RAG1 TREX1 UROS ALG8 ATP7B PCCB WAS MMUT TERT RPS10 CFI RUNX1 SALL4 DOCK6 SLC46A1 CD46 USB1 SLC7A7 HIRA TNFSF12 JAM2 ERBB3 TINF2 IL7R ACD RPS28 WIPF1 CASP10 CTLA4 GP1BB SALL4 EFL1 NBN GBA HLA-DRB1 CASP10
Protein Mutations 2
G20210A V617F
SNP 0
HP:0001392: Abnormality of the liver
Genes 1396
SNX10 RNASEH2A ND4 GALE MMUT PEX5 NDUFS6 LPIN2 GUCY2D RNASEH2C AXIN1 COG4 GNPTAB LIMK1 HLA-DRB1 LIPA SPTB LBR CD247 PDGFRA RHBDF2 SOS2 HBB ABCD3 COX15 TSHR GP1BB ASS1 IRAK4 FANCI SLC30A10 CLEC7A IL2RG EXTL3 SLC25A19 NSD2 SEC24C ZIC3 DAXX POMC NELFA NPHP3 NPC1 TNFSF15 PIGA APOE HJV COG2 TNFRSF1A DHFR PEX11B PEX11B RINT1 BLK ABCG8 ABCG8 LZTR1 NSD2 TRAF3IP1 UNC13D GPC1 GANAB KCNH1 RNU4ATAC TTC21B INPPL1 PIEZO1 GPR35 TMEM67 JAK2 MET PEX10 EIF2AK3 PRF1 GPI RAD51 ERCC4 MYC CTLA4 LBR FCGR2A PRKCD LYST BTD IL21R NEUROD1 MLH3 BMPER GCDH NSD1 GLB1 LTBP3 ATP8B1 UQCRB CYBA LMNA FANCL ERCC6 SF3B1 NDUFA1 PRPS1 CAVIN1 TERC AGL MECP2 TCF4 NAGLU GUSB DLD NAGA PET100 RNU4ATAC PTPN11 IL12RB1 NEK1 PDX1 UGT1A1 PKLR TMEM67 HBA1 LZTFL1 NRAS BCS1L PLPBP MAN2B1 ARSA HJV TREX1 FBP1 SPTA1 HGSNAT SLC2A1 RASGRP1 LYST TKT IDUA XIAP TSFM DNAJC21 WDR19 BICC1 HNF1A LETM1 TTC8 GBA NCF1 WDPCP MCM4 CD70 SOS1 IL2RB PEX19 WRAP53 PIGM ACADM POU1F1 TMEM70 PEX3 UQCRFS1 PEX1 TNFRSF13C PEX13 G6PD AP1B1 HNF4A SBDS ABCC2 RERE CD40LG ICOS PDGFRB UGT1A1 FANCM FASLG DMPK MPV17 FOXP3 MEFV PEX19 COX14 HBA2 TGFBR2 CIITA UBR1 NR1H4 IARS1 PIEZO1 CYTB ENG PLEKHM1 ATAD3A STAT6 FLT1 NEU1 HBB IDUA MSH6 LMNA CAV1 MRPL44 NOP10 PSAP JAG1 TACO1 GBE1 MET GNPTAB MYBPC3 FANCG HYOU1 APC GALM MKS1 POLG BBS2 LACC1 DNAJB11 ACOX1 DYNC2H1 H19-ICR KCNN4 KIF20A NDUFS7 ARHGAP31 MTRR PEX2 RFT1 IL7R RAF1 GPD1 CYP27A1 ETFA HPD PTPN3 ALG8 MST1 PIK3CA TRNV ADAMTSL2 PEX14 TMEM165 TCIRG1 NDUFA6 HNF1A VCP RNASEH2C SP110 RBM8A TIMMDC1 HFE CIDEC BCS1L SDHD CLDN1 CD55 TET2 TTC37 LPL CLDN1 PEPD SC5D MAGT1 RFX5 OFD1 PALB2 PSMB4 SKIV2L SON HMBS TRNW FGFR2 APOB AP3D1 PEX6 MMEL1 IGF2R RRM2B TNFRSF1B REST SC5D CTCF RAC2 CTLA4 TRHR EFL1 CIITA SLC25A13 AP3B1 GPC3 B9D2 KCNQ1 PEX16 AGA PKHD1 NEUROG3 ZAP70 NDUFB11 BBS10 DUOXA2 FOXP3 HNF1B POMC COG5 VIPAS39 PCSK9 SPIB TRMU FANCB ANKS6 XK OSTM1 KRAS HEXB SEC63 SCNN1G POLG INS ACADVL DCTN4 CDKN1C DKC1 TNFRSF13B TBX19 HAVCR2 DGUOK TSHB EPB42 ATP7B BOLA3 PLIN1 LDLRAP1 PRKCD SLC25A4 C1S APC DHCR7 KRAS SFTPC SLC22A5 HSD17B4 LYZ ANK1 VPS33B CASR WDR35 STK11 MAN2B1 CTNNB1 DDRGK1 SPINK1 IL2RG SPTB HFE DYNC2H1 TMEM216 TREX1 CYP27A1 CBS IFT122 ACAT1 NDUFB3 HOXD13 COA3 CD96 WT1 STAT1 MUC5B MRPS7 BBIP1 SMAD4 SLC4A1 HBG1 ABCG8 MED25 CHD7 PEX10 TERT MVK COG1 COG4 HAMP IFT27 LMNA GBA RREB1 CDAN1 NDUFS7 IDUA RAD51C CTSK DLL4 KLF1 SEC23B FUCA1 PDGFRA TBX1 CEP164 FLNC DPAGT1 JAK2 ALG1 NCF4 DYNC2I2 TPI1 RFXAP PEX12 GPIHBP1 GDF2 CASP8 MFN2 PTRH2 MAN2B1 COX20 PEX26 MMUT LRPPRC TRAF3IP2 PEX3 CEP290 RELA FANCD2 PYGL CR2 APPL1 VPS45 RMND1 GALNS RRM2B TRIM32 APC KRT8 RFC2 ABHD5 CTLA4 NCF1 CD3D STEAP3 PMM2 HNF1B IFT172 SMAD4 CLCN7 ND1 SGSH SERPINA1 HBG2 TFAM CDKN2A IL18BP PTRH2 NDUFS3 TRNS1 SPTB CTSA NDUFAF2 IL17F WDPCP TMEM67 LRRC8A CPT2 NAGS BRIP1 FLI1 CLCN7 XRCC4 IGLL1 MPV17 PEX19 PRKCD PEX12 SLC7A7 NCKAP1L ABHD5 HNF1A HLA-DRB1 SLCO2A1 FAH XIAP CEP83 DKC1 TMEM67 PEX14 NDUFAF4 CYBB CD3E EPCAM VHL DGUOK TTC7A BMP2 TNNI3 EOGT ABCB4 PHKA2 CBL NEU1 MYD88 NPM1 ACADL SLC20A2 SMAD4 MMAB POLG2 MTTP RRAS PSAP TMEM216 CASK ACAD9 PTEN CEP290 CPT1A ADA AIRE PHKG2 POLG2 GAA FANCC CARS2 IFIH1 COA8 PSAP TERT DHCR7 PEX1 PEX12 FBP1 SLCO1B1 UBE2T TSC2 ARSB COG6 RASA2 RHAG APOE CC2D2A EPB42 COX10 CPT2 TTC7A INSR BTK LMNA SKI APOA1 GPC3 RPS20 PLAGL1 PALLD NDUFS1 RUNX1 LYRM4 INTU WT1 DYNC2LI1 MKS1 COMT HYMAI NLRP3 PRKCSH TP53 ASAH1 SBDS ACVRL1 MVK MPL PAX8 LRP5 CLCN7 BBS1 RIPK1 PCSK1 STXBP2 NFKB2 KCNQ1OT1 NDUFAF8 PEX2 DCDC2 SLC25A15 ATP11C HADHA PHKA2 CPOX POU2AF1 IL1RN PSAP CCDC28B PEX12 SNX10 RHAG TGFB1 ABCC8 PEX6 HADH FOXF1 TNFRSF13B TRAPPC11 ALDH7A1 PHKG2 GDF2 CLCN7 SP110 HBG2 CC2D2A NDUFAF5 APC2 HAMP FANCA TNFRSF1B CTNS ARSA PMM2 COX15 UGT1A1 PPOX NLRP1 EARS2 PKHD1 CEP290 ACP5 IL12A KRT18 TRIM37 PEX26 EPB41 PEX6 SLC4A1 TRNW HFE IFT140 HNRNPA2B1 ABCA1 DDRGK1 TREX1 RPGRIP1L TRNK EPB41 ATP7A MSH6 INPP5E TALDO1 CYP7B1 FECH SRP54 TINF2 ATP6AP1 SHPK ATP7B PC CPOX ARL6 IDUA BCS1L RMRP NDUFAF1 PEX6 DUOX2 FGFR2 BSCL2 PSTPIP1 SCNN1B TRIM28 AKR1D1 DOCK6 AP1B1 USB1 IGF2 H19-ICR COX4I2 HIRA TNFSF12 PIK3R1 AKR1D1 PHKB IER3IP1 JAM2 F5 TTC21B TFR2 LIG4 IL7R ABCG5 NHLRC2 CTNNB1 SLC25A13 ALDOB RMRP ACADVL CDKN1B LIPA IFNGR1 SDHB PPARG ENG HLA-DRB1 IQCB1 CASP10 GLIS3 CA2 PSAP PEX11B NOTCH2 DPM2 CD81 ACADM SDCCAG8 PRKAR1A FECH DLL4 COX10 ERCC8 USP18 SLCO1B1 PPARG SDHC GBA LIG4 HADHA ALG13 TYMP KMT2E TMEM199 HMGCS2 KCNJ11 MLXIPL ADK NOTCH2 BLVRA SLC37A4 BBS12 PEX5 DYNC2I1 CPLX1 NPHP1 PCK2 ABCC8 NPHP3 LRP5 CYBB KRT18 WDR35 ERCC8 DYNC2I2 KRAS NKX2-5 SLX4 TUFM PEX13 PKD1 XRCC4 TRIP13 GPC3 RPGRIP1L WDR19 JAM3 BBS7 ELN CFTR CEL DIS3L2 SLC29A3 SLC44A1 KLF1 PKD2 NPHP3 TRNL1 IL17RA JMJD1C IARS1 VPS33A UFD1 FADD TNFSF11 DIS3L2 AGA TSHR RAG1 BRCA2 SLC25A20 EIF2AK3 APC GTF2I ABCB11 CNOT1 MCCC1 ALG9 FAN1 KIF3B NDUFA11 APOE G6PC SLC26A4 RAB27A MSH2 TG CYP7B1 EWSR1 ATP6 SPRTN WDR19 TNFSF11 HK1 IGHM LMNA ERCC4 MOGS HNF4A TBX1 CD79A CFTR TMEM67 LHX3 INPP5E MYORG PEX2 ITK MPI CALR NPHP3 MMAA SLC40A1 VPS33A SLC5A5 SCO1 RPGRIP1L BBS9 APC SPECC1L PEX2 TTC37 TET2 BTK SETBP1 SCNN1A IL7R ASL GFM1 CFTR AP1S1 HBB PSMB8 TINF2 CD28 DHDDS FANCE LMNB2 ANTXR1 GPC4 CD19 ND6 CP ARL6 KIT RFX6 CPT1A ALMS1 INVS B3GLCT TRNE CPOX ITCH MPI PEX26 NSMCE2 RBCK1 TWNK IDUA APOC2 NDUFAF3 NDUFS4 SAA1 HBA2 BCHE NPHP1 AP1S1 NBAS ABCB11 SERPINA1 FH RAG2 TMEM107 MRAS CASR PNPLA6 DPM1 IFIH1 ZAP70 ND3 SCYL1 MYRF GNAS GYPC ND1 BRCA2 RFXANK TARS2 DYNC2LI1 ABCB4 LETM1 GBA HBB GATA6 TMEM126B GBA BRCA1 PSMB9 NDUFAF1 PEX3 ATPAF2 ATP7A F5 TSC1 PCCB FAS NHP2 SLC13A5 GALK1 COX6B1 ALDOA ETFDH G6PC3 MS4A1 HBB CD19 TCIRG1 EXTL3 HNF4A GUSB LBR GNE NGLY1 SLC25A19 PCCA RRAS2 DDOST KIT PEX1 NPHP4 RAG1 ALMS1 PDGFB LIPA TRAPPC11 C4B TRAF3IP1 UGT1A1 SPTA1 ASAH1 PEX12 MPL OCLN KRAS ADAMTS13 DCDC2 LMNA MIF SUMF1 CYBC1 ABCA1 POU1F1 SLC11A2 BBS5 FAH STX11 JAK3 PEX6 TMEM67 SPTB SLC2A1 POLR3A IRF5 CA2 MKKS LIPE RAG2 NAB2 ABCB4 HMGCL BTK ERCC6 RNASEH2B ANK1 NEU1 BTNL2 NOP10 ALAS2 CSPP1 CPT2 ND2 CBS PEPD TERT MARS1 SDCCAG8 TCF3 ERCC8 ICOS PRSS2 KCNN4 GCLC ACVRL1 NUBPL LIPE SAMHD1 SLC40A1 TGFB1 STN1 IGF2 KPTN ADA AUH TPP2 CCDC47 KLF11 FARSB UCP2 GPC4 IL36RN PKD1 PEX14 TNFSF12 RPGRIP1 SURF1 C1QBP RASGRP1 PEX16 CLPB HPGD ATP6AP2 FERMT3 SDHA RBPJ ND3 DCLRE1C PEX1 TRMT5 TRMU MLH1 GLB1 LCAT AGPAT2 BTNL2 TRNN GNMT B2M MRPL3 PSAP TNNT2 DNAJC21 FOS HSD3B7 COG7 CAV1 PCCA SLCO1B3 IFT80 CTSC USP9X SFTPA2 AKT2 ABCA1 CYP7A1 SDHA TNFRSF13C JAK1 HMBS SLC4A1 CAVIN1 GANAB SCARB2 GBA PARS2 RNF43 BSCL2 TCIRG1 KCNN3 SETD2 NDUFV1 PNPLA2 CYP19A1 ATP6V1B2 HMOX1 PKLR C11ORF95 IFT172 IFT140 TJP2 BMPR1A ARVCF NFKB1 PMS1 PEX16 ALDOB CLIP2 C8ORF37 MSH2 PYGL MKS1 RHAG PIGS FANCF KCNJ11 JAK2 ATRX CIDEC RECQL4 NCF2 PRKCSH CD28 LARS1 CASR BAZ1B FUCA1 HNRNPA1 CPA1 SLC25A20 NDUFS2 KRIT1 ADAR WHCR LHX4 ATP8B1 ATP8B1 JAK2 SLC25A1 FASLG HBA1 PEX26 WDR19 GATA2 ETFB IL6 STOX1 ICOS ARSA TMEM231 LDLR XRCC2 DNASE1L3 TET2 CLCA4 STX1A AGGF1 HESX1 MRPS28 ARG1 PLEKHM1 POU6F2 SLC39A8 IFT172 TKFC TALDO1 IL17RC SAR1B ASXL1 TRIM28 TCTN2 CD79B NHP2 AMACR ALG2 FBN1 SLC25A13 INSR NRAS NPC2 GALT POLD1 PKD2 BLNK CORIN RAG2 NDUFS8 PFKM NLRP3 FOXRED1 AHCY CEP290 SLC22A5 DOLK SMPD1 IFT80 HADHB SLC4A1 STEAP3 PARN PAX4 NDUFB10 PEX13 NDUFS4 PRSS1 TP53 PIK3C2A COX8A NAGA HBB GABRD GBA DNAJC19 APC BRCA1 KCNAB2 SNX14 ACOX1 NOTCH1 H19 TRIM37 AMACR UROD ABCC2 ND5 NCF2 CR2 TNPO3 SRP54 SCYL1 RFXANK PEX16 IL2RA POLG2 IL2RG HADH ERCC6 CYBC1 SMPD1 FGA HSD3B7 SLC30A10 CC2D2A TREX1 WDR35 SLC25A13 PRKAR1A TMPRSS6 SRSF2 NPHP3 RIT1 SH2D1A PEX3 GATA6 GLRX5 PIK3CA CCDC115 PROP1 HNF4A CTC1 GNE FAS ACAD9 RNASEH2A CD27 DYNC2I1 NDUFV2 TBX1 RFX5 DCLRE1C BSCL2 MPC1 BBS1 PALB2 GTF2IRD1 PEX14 SLC25A15 FADD APOA1 IYD AKT2 COG6 TERC CBL SLC39A4 AGPAT2 NOD2 SLC29A3 ADA2 PLIN1 BCS1L GBA CC2D2A BSCL2 IFT43 SOX10 ESCO2 SPOP SEMA4A PEX1 SLC37A4 RPGRIP1L VPS13A NGLY1 TF CYBA MAD2L2 NHP2 FAS SEC63 COG8 FDX2 TNFRSF11A CDIN1 SLCO1B3 RFWD3 DZIP1L CCND1 ERCC8 PEX19 XPR1 FAM111B RTEL1 PEX3 CTRC PEX5 TPO KRT8 TERC MYPN CTBP1 MLH1 IFNG ITCH YARS2 PNPLA2 BRCA2 ERCC4 TGFB1 BBS4 FGFRL1 RFXAP SUMF1 ERCC1 GCGR RAG1 SMPD1 ND2 POLG TBX19 UROS ALG8 ELN HADHA PCCB CEP19 A2ML1 SETBP1 TET2 BPGM PEX10 PAX8 MMUT MVK TERT PTPRC SLC17A5 NEK8 CEP120 ALG9 ARSA TBL2 ERCC6 STK11 SLC7A7 NDUFB9 LONP1 RFT1 WT1 ERBB3 SKIV2L PDGFRL CEP55 KCNH1 CPT2 DMPK PEX10 UGT1A1 PEX5 XYLT1 DLD NSMCE2 HMGCL GLB1 PMS2 COA8 PCK1 DNAJC19 B9D1 PGM1 GALT PPARG CASP10 PRDM16 IDS RNU4ATAC EFL1 GCK GNS GBA
HP:0002664: Neoplasm
Genes 1537
H19 RPS19 WT1 GPR101 CHEK2 MYD88 VEGFC PGM3 CTNNB1 PDGFRA IRF1 RHBDF2 PICALM FANCC GDNF RET PRKAR1A NELFA BCL10 KRT10 BLK TINF2 SMARCD2 NSD2 BRCA1 KRAS TRIP13 KCNH1 PERP CDH23 IKBKG MCC JAK2 MET GTF2E2 FOXC2 NF1 RAD51 TP53 ERCC4 WNT10A ASXL1 CTLA4 FLT4 DVL3 BRCA1 MLH3 NSD1 ERCC2 TSC2 FANCL RPS14 CDC73 TNFRSF4 STAG3 MSTO1 AIP EVC RET PLCD1 SDHB NEK1 POLH ASXL1 BRAF IL7 MAP2K1 ARSA BRAF COL4A5 CYLD KRT14 MLLT10 RASGRP1 H19 XIAP NTHL1 FGFR2 IGH DNAJC21 LETM1 MCM4 MYF6 CD70 FAM149B1 FGFR3 TERF2IP TNFRSF13C GLI3 DDX41 RPL26 PRLR SBDS LIG4 MGMT RERE KLLN FANCM WT1 PHB AXIN2 KIT PTEN TGFBR2 GJA1 PDGFRL STAT6 TYR CPLANE1 IFNG SIX6 JAG1 PALB2 SSX1 FANCG KIT MYO1H ELANE RPS19 H19-ICR KRT6B IDH2 PLCB4 FGFR1 BAP1 MINPP1 MST1 SMARCB1 PDGFRB RB1 FAT4 NF1 HFE SDHD WT1 TET2 BMPR1A RAF1 POLR1D CBFB SKIV2L IRF1 COL18A1 HMBS RET MMEL1 IGF2R JAK2 SEC23A BUB1B XPC ING1 AXIN2 KIT PALB2 MAGT1 STAC3 ALK SLC25A13 TMEM231 SHOX TDGF1 REST SMO SMARCA4 DNM2 TSR2 LIN28B GNAS WT1 CDKN1A DNAJC21 DKC1 BAP1 SRGAP1 ALX1 PTPN11 CBL APC SCN11A MAP3K1 RPL10 KLF6 PAX7 APC C1S NRTN BUB3 KRT5 LIG4 CARD14 GNAS MLH1 CDKN2A GNA11 TMEM127 ESR1 IL2RG KRT1 MET NF2 SDHAF2 SDHD WT1 MAP3K8 STAT1 PHOX2B PTPRJ PTCH2 CHD7 TERT LMNA ERCC6 EDNRB XPA PDGFRA OFD1 VHL SAMD9L SF3B1 FERMT1 BRCA1 GDF2 CASP8 TP53 LAMC2 GFI1B FANCD2 PYGL CR2 AR REST APPL1 APC CYP2A6 SEMA3C WT1 CDKN2A CTSA LRRC8A PHOX2B SMARCB1 NAGS FLI1 SOX2 RAD21 TMEM127 APC FGF3 BAP1 BUB1 RAD51 DKC1 RAD54B VHL EPCAM ASXL1 SRC HRAS BMP2 SLC25A11 PTH1R KRAS MYD88 NPM1 PTEN SH3GL1 PHOX2B TP53 SMAD4 XPA GATA4 MLH1 PMS2 STK11 FANCC DHCR7 PTCH1 CDC73 CYLD MEN1 CLCNKB CHEK2 RNF139 HABP2 POLE H19-ICR MMP1 RPL27 CC2D2A PIK3CA GPC3 ABL1 PALLD WASHC5 INTU ERCC5 DYNC2LI1 SLC22A18 TP53 CDH1 SHH MPL AKT1 NFKB2 NRAS PIGL CASP8 MYC KCNE3 DLST TAF15 TNFRSF13B GDNF EYA1 APC2 TNFRSF1B TCTN3 PPOX PNP PKHD1 BLM ODC1 IL12A TERT STK11 KRT17 IDH1 CIB1 RPL18 DVL1 ARHGAP26 PHOX2B CASP8 RPGRIP1L KRT6A SDHB FGFR2 VAMP7 JAK2 SRY DNMT3A EPAS1 KCNQ1OT1 MSH6 KRAS SDHB WNT5A DNMT3A RUNX1 TRIM28 DHCR24 USB1 VANGL2 GCM2 LIG4 KRAS SDHB ENG SEMA3D TRNS2 MINPP1 CASP10 NTHL1 LMOD1 SUFU FOXH1 CD81 ALX4 F13B BMPR1B RB1 CACNA1S CHIC2 VHL HRAS KIF11 KCNJ11 WRN SLC37A4 GNAQ LZTR1 CCND1 CPLX1 NR4A3 RYR1 NBEAL2 GATA2 TP63 APC KRAS HNF1B SUFU GNB1 MSX2 GPC3 CEL TCTN3 OCA2 MDM4 RB1 TMC6 ASCL1 AR BRIP1 CHEK2 AAGAB TSC1 TXNRD2 POLD1 CARMIL2 APC PIK3CA AKT1 POLE FAN1 RAD21 G6PC BRD4 PTCH2 MSH2 DHH EWSR1 SPRTN SDHC PTCH1 ALX3 CD79A TMEM67 INPP5E CCBE1 KRT6B BRCA2 ITK GINS1 HLA-DRB1 SNAI2 NBN PHOX2B BRAF CDH1 FANCE TYR GPC4 NF1 CD19 MVD AIP AR NBN TMEM107 BRIP1 ATRX BCHE MITF WRN BCR BCR NF2 SERPINA1 SDHB RABL3 PARN ANTXR2 TERT DPM1 IFIH1 GDF5 ZAP70 MEN1 TP53 GNAS BRCA2 TMC8 NODAL LETM1 VANGL1 TBXT BRCA1 FIBP FLT4 IL1B CCL2 FGFR3 SUFU MTAP ELANE CD19 HNF4A SAMD9 BUB1B KLHDC8B SLC26A2 FGFR3 FOXP1 PUF60 RUNX1 PTCH2 TRNK FLT4 TYROBP MPL KRAS RAD54L PIK3CA FAH CHEK2 CPLANE1 FAM20C CXCR4 DDR2 POU6F2 TMC6 SEC23B RET TRNP TFE3 TP53 NAB2 ANTXR1 MYSM1 SDHAF2 BTK TNFRSF10B DCLRE1C L2HGDH CDKN2A CYP11B2 BRCA2 SDHD TET2 TMEM216 BRAF PTCH2 TCF3 RPL11 NNT FLT3 BAX HAX1 IGF2 AKT1 FGFR3 MLH3 PLA2G2A TCF4 MLH3 NOTCH1 ERCC4 RRAS2 GPC4 DICER1 LZTS1 DOCK8 CASP10 GREM1 HPGD COL1A1 DCLRE1C IDH1 XRCC3 SUFU DNAJC21 PDGFRB TP53 NLRP1 WWOX TSC1 CTSC USP9X PDCD10 MEN1 ASCL1 RNF43 TNFRSF13C ESCO2 ZFPM2 AP2S1 PRCC HMBS ADA2 GANAB WT1 RNF43 HRAS KRAS SETD2 ATP6V1B2 FLT3 TJP2 BMPR1A PDGFB KIAA0753 PTEN STK4 NFKB1 BAP1 PMS1 MSR1 SLC26A2 RECQL4 MSH2 JAK2 ATRX FH RECQL4 FCN3 CD28 ASPSCR1 ADAR WHCR NOTCH3 GATA2 SMARCE1 CDKN2A RET ESCO2 EXT1 ERCC5 TET2 MBTPS2 NF1 OFD1 AGGF1 MVK KIT MUTYH HRAS KRIT1 FGFR1 TRIM28 CHEK2 CD79B GNAS BRCA2 KDSR BAX HACE1 MAP2K2 EDN3 ERCC2 CTNNB1 IL6 IGH PIK3CA MSH3 FZD2 SMPD1 SNAI2 PHOX2B SLC26A2 OFD1 PAX4 RB1 TRIP13 EWSR1 SCN9A PIK3R1 GBA EP300 PIK3CA HMMR KIT PDE6D ZSWIM6 SH3KBP1 SRP54 FUZ USP8 WT1 TERT MAFA FOXO1 GJB3 RAD51D POT1 SDHC PRKAR1A CREB1 SH2D1A WIPF1 WWOX PIK3CA NF2 HNF4A FAS RNASEH2A CD27 ATRX SPRED1 RPS14 FDPS RNR1 PALB2 NF1 MN1 TET2 GPC4 KDR SOX9 RAD51 MAX MYLK EP300 SHOX FOXE1 TCOF1 ESCO2 MYH11 HSPA9 MAD2L2 KRT9 CYP2D6 RFWD3 FANCE KRAS CCND1 LMO1 PTCH1 PORCN EDN3 PDGFRA DICER1 FANCA TERC CTBP1 SDHD ANTXR1 CXCR4 RAD50 BRCA2 MC1R MPL SLC22A18 MMP1 KRT16 F13A1 TSC2 ENG SETBP1 WT1 TET2 SDHC SMAD4 ZFHX3 GFI1 RNF113A STK11 KARS1 FOXE1 CDKN2B WT1 ERBB3 SMARCAD1 PDGFRL DMPK GTF2H5 NF2 CEBPA RPS28 PMS1 AKT1 PRDM16 NBN GCK SPINK1 ERBB2 JAK2 KIT DKC1 EXT1 JAK2 COL7A1 AXIN1 SLC22A18 NRAS ECM1 GNPTAB ABCA5 CDH1 NRAS ERCC6 VANGL1 RAD51C MYCN HBB TP53 SRY FANCI AKT1 MITF LEMD3 TARS1 TET2 NSD2 DAXX DYNC2LI1 OGG1 EXT1 TNFSF15 TERT ERCC6 DMRT3 SLC25A11 CTNNB1 VHL KLLN MLH3 EIF2AK4 GJB6 BARD1 OCRL GPR35 MYC DLST KRAS MSH3 RMRP PRKCD KLF6 NEUROD1 FANCG SLC17A9 BMPER FLCN SDHC SF3B1 STS GNA14 TERC MNX1 CAT TCF4 TUBB TRNQ BRCA2 IL12RB1 PDX1 CDKN2A SLC26A4 SDHC PPM1D NRAS PRKAR1A NRAS TAL1 KIF1B DNMT3A PDGFB MRAP ERCC3 CDC73 PRF1 RFWD3 PMVK RPL15 FGFR1 TP53 BICC1 HNF1A GATA1 RTEL1 RPS15A ERCC4 WRAP53 NR0B1 BCR FGFR2 SEC23A KRT17 NR5A1 VHL BLM BRAF ICOS POLD1 RPS27 FASLG CYSLTR2 PTEN PRKN THPO KIF7 NRAS TAL2 BRAF WDPCP DCC MSH6 NOP10 WNT10A PSAP ERCC2 CALR ACD SLX4 ACAN HABP2 GJB4 TET2 PHF21A ERCC3 MDH2 APC PALB2 RPL10 KRT17 PGM3 IL7R ARL6IP6 APC TCIRG1 NF1 SMAD4 PTPN3 PIK3CA ABCA5 FGFR2 TGFBR2 BRCA2 HNF1A RNASEH2C PAX6 IGH TTC37 DICER1 SRY GPC6 TOP2A KIT OFD1 PALB2 NRAS MC1R SDHD TFAP2A FGFR3 TNFRSF1B REST PTEN MST1R SCN4A BRCA2 CDKN2A FGFR2 ZIC2 EFL1 ECE1 NUP214 DDB2 GPC3 KCNQ1 PTEN HNF1B FN1 ASCC1 SPIB SRP72 PTEN FANCB KCNJ10 AKT1 KRAS KEAP1 INS DISP1 PTEN SASH1 CDKN1C ACTB TNFRSF13B MYH8 EDN1 IVNS1ABP NSUN2 TSC1 RAD51C MSH3 ATP7B RET PTPN12 STIM1 DHCR7 KRAS SFTPC BMPR1A XPC TMC8 KCNJ10 KDM6B STK11 KRAS GNAQ KRAS HFE HOXD13 B3GALT6 RPL5 KAT6B GATA2 MUC5B PIK3CA USP8 GDNF SMAD4 MVK RHBDF2 SSX2 CEP57 RAD51C NEK9 JAK2 PDGFB NRAS KRT1 PIK3CA MFN2 DOCK8 PTEN IL7 SDHC ATM AKT1 BRCA1 RELA GCDH PIK3CA IDH2 HRAS CTLA4 GPR143 ERCC2 GATA2 PTPN11 IGF2 SMAD4 NDUFAF6 CDH23 RPS7 RAD54B TP53 MUTYH GLI3 PTPN11 BRIP1 CDKN1B SF3B1 PTCH1 CIB1 ERCC3 PTPN11 TRPV3 GDNF IGLL1 PRKCD CTNNB1 PIK3CA PTPN11 SLCO2A1 FAH BRCA1 ETV6 BRCA2 EPCAM TP53 EXT1 BCL10 TRPS1 BMPR1A ATM MPL KRT17 MAX SLC12A3 ADA TERT UBE2T TSC2 TCTN3 MSH2 BDNF BTK SKI RPS20 NRAS RUNX1 DCC MSH2 RPS24 WT1 TRNF TFAP2A RPL35 RPS17 SDHA RARA CDC73 SBDS POLH BRAF LAMB3 RNF6 PIEZO2 KCNQ1OT1 CCM2 PHKA2 POU2AF1 TP53 TREM2 ABCC8 EXT2 ALK PHKG2 NUTM1 SLC26A4 PTCH1 MUTYH PALLD NBN FANCA SQSTM1 ELMO2 ACP5 TWIST1 TRIM37 RPL31 HFE RET DLC1 SDHB EP300 TREX1 HSPG2 ATP7A MSH6 C2CD3 CHRNG SRP54 TINF2 BUB1 PSENEN SMAD4 NF1 ERCC3 ARID1B RMRP WAS GATA2 MAPK1 BIN1 COL7A1 EDN3 PIK3CA IGF2 H19-ICR TUBB FH MLH1 TNFSF12 PIK3R1 RASA1 F5 SH2B3 CTNNB1 FOXI1 SUFU TLR2 SRSF2 CDKN1B GJC2 OPCML LEMD3 FIBP TRNS1 HNF1A VHL PTEN PRKAR1A MSH2 CYLD CTHRC1 COL7A1 DDB2 SDHC GJB2 LIG4 MDM2 LAMA3 CHEK2 MTOR CDON SMARCE1 TAF1 GNAQ TP53 RAD54L WWOX BMPR1A CCND1 GFI1 BCL10 PTEN CTNNB1 DHX37 SLX4 FGF8 XRCC4 TRIP13 CDC73 BIRC3 NOTCH3 DIS3L2 PKD2 KIF1B GNA11 ARMC5 CREBBP DIS3L2 HRAS LMX1B BAP1 BRCA2 POT1 ABCB11 AURKA RASA1 SMARCB1 ALX4 GPC3 MGAT2 PAX3 IGHM LMNA TCF4 GATA1 TRNK IDH1 LRP5 CALR FH RET SEC23B APC TET2 SETBP1 WT1 PMS2 POLR1C SIX3 EPHB2 RPL35A RET TINF2 CD28 CYP26C1 MNX1 ALX3 KIT CPOX GJB2 DLL1 MSTO1 RSPO1 TEK EXT2 ABCC6 COL2A1 GNAS FH FASLG BAP1 COL14A1 YY1 RAG2 RB1CC1 MAP2K1 RHOH STAR CREBBP RECQL4 EVC2 HBB ERBB2 ABL1 NDP SUFU NF2 MSH6 ATP7A TSC1 FAS SLC6A17 MS4A1 NQO2 FLCN EXTL3 SOS1 RNASEL NPM1 KIT GNAI3 TRNH RAG1 HRAS BUB1B IGF2 PLAG1 FANCD2 BCL2 NEK1 KIT ATP7A PIK3CA SMARCB1 PCGF2 LIG4 BCL6 NUP214 FLNA IRF5 ACVR1 GAS1 DYNC2H1 RSPRY1 TRAF7 RNASEH2B REST RPS29 TGIF1 TERT PIGA TP53 CDK4 GPR101 ACVRL1 SAMHD1 MSL3 MAPRE2 SLC45A2 CTNNB1 ADA KLF11 NKX2-1 GLI2 PKD1 MAP3K1 SRP54 TNFSF12 ND5 CRKL RASGRP1 BCL10 RPS26 GLI3 TRNL1 AR SDHA RB1 MLH1 MC2R TGFBR1 KIT CYP11B1 AXIN2 EGFR PIK3CA RECQL4 EXOC6B SMO SFTPA2 NRAS CDKN1B TP53 PIK3CA MSH6 ACTG2 POT1 SDHB RNF6 CALR KCNN3 C11ORF95 TSC2 CD96 SOS1 COL2A1 SMAD7 GLI1 FANCF MPL CDH1 BRCA2 BRAF ATR SDHA FLCN DICER1 IL1RN ICOS AIP RSPO1 DICER1 GCM2 XRCC2 DNASE1L3 PPP2R1B TGFBR2 MTM1 CDKN2C SIX1 MEN1 POU6F2 SRD5A3 STAT3 ERCC3 TG ASXL1 CDKN2B CYLD NHP2 CCDC22 TBC1D24 BLNK DIS3L2 SH2B3 MPLKIP AHCY PCNA EXT2 EXT2 MEN1 PARN WRAP53 TP53 HBB GABRD NUMA1 APC ZSWIM6 BRCA1 GJB2 KCNAB2 AIP USF3 RUNX1 H19 HDAC4 SDHD UROD PDGFRB CR2 HRAS CDH1 ERBB2 TNPO3 LPP SDHD IL2RG ATM BARD1 TREX1 POLE C2CD3 ERCC4 SLC25A13 PNP KRAS SRSF2 SDHB FGFR3 CASR CASP10 TET2 CTC1 ENPP1 SOX6 PIK3CA BMPR1A ERCC2 TERC CBL ADAMTS3 PIGL BCR SAMD9L NOD2 CBL TGFBR2 MALT1 SEMA4A ANTXR2 SLC37A4 TBX2 DHH STS SDHB TERT KRT16 DZIP1L RTEL1 SDHD CCND1 AKT1 FOXI1 CDK4 NSD1 MLH1 FLCN DLEC1 FGFRL1 MTMR14 GCGR TBX18 CREBBP MXI1 APC BCL10 COL11A2 TERT MC1R SCN10A RPS10 SMO BRCA2 KIT ATM PRKN MRE11 KIF1B KCNH1 VHL GPR101 GNAS PMS2 ACD WDPCP MAD1L1
HP:0001626: Abnormality of the cardiovascular system
Genes 4365
NR2E3 ND4 MMUT EDNRB NDUFS6 TMEM94 LPIN2 COG4 VEGFC PGM3 GATA1 PDE11A KIAA1549 SLMAP LBR CD247 RHBDF2 AGK ABCD3 SEMA5A GP1BB HS6ST1 FANCC SEC61A1 SEC24C PROM1 CALM1 TRNL1 ANK2 NELFA HPS3 STING1 GDF1 MMP14 APOE PEX11B POLR1A OFD1 ABCA12 FGF20 ABCG8 CCDC141 NSD2 CYTB HGD KRAS NKX2-5 JUP KCNH2 TRIP13 FEZF1 PERP IKBKG BTD LDB3 GDF1 RAD51 ERCC4 FGB NDP SLC25A4 ASXL1 CTLA4 ABCC9 LBR FLT4 KCNJ2 SEC31A ATP6 USH2A FLNC GATA4 MYH6 PLEC NSD1 FHL1 GLB1 TSC2 LMNA CAVIN1 TNFRSF4 FLT4 GUSB AIP EVC C12ORF57 RET RNU4ATAC PPP2R1A TPM3 XYLT2 COQ2 FBLN5 HBA1 LZTFL1 ACP5 NUP188 IL7 MAP2K1 ROBO4 MYLK PUF60 FKRP TPM2 TTR TSFM TMEM67 FGFR2 SPOP IGH KDSR DNAJC21 LETM1 ACTN2 POMGNT1 PTDSS1 MYF6 CD70 SOS1 ATP6V1A GJB6 NPPA ACADM GATB TERF2IP GLI3 G6PD HNF4A MGMT COA6 RERE KLLN IFNG ARNT2 FANCM WT1 PDE11A FOXP3 USP45 MYCN UBR1 MYOT IARS1 ENG PLEKHM1 GJA1 GLI2 DNAJB13 PRKAG2 FLT1 INVS IDUA CCDC174 NOTCH3 HPGD HIBCH CAV1 IFNG HLA-DRB1 JAG1 ARL13B GFM2 HOXA13 COL4A1 GBE1 SALL4 CFHR1 TBXAS1 DDX58 TGIF1 MKS1 LACC1 DNAJB11 ND5 RPS19 H19-ICR BLOC1S3 CDON PRPF6 PLCB4 GPD1 SLC18A2 FGFR1 EVC2 NEDD4L BAP1 RPGR THPO MST1 LAMA2 HPS5 ADAMTSL2 PEX14 RAB23 NDUFA6 MYH7 ESR1 EDA VCP KCNE3 ZIC2 KMT2E HFE SDHD C2 ITGA2B TET2 CAV3 ALDH3A2 PEPD FGF8 RAF1 SHH XYLT2 PSMB4 SON HMBS TLL1 DTNBP1 ABCD4 FHL2 MMEL1 NODAL JAK2 HEPHL1 TAZ HAAO BUB1B ERAP1 ADAMTSL1 CSTA SMC1A ZNF148 LZTR1 MIB1 CLRN1 FMO3 TMEM231 PRTN3 PIGN CHRND TRNF LRP6 TDGF1 NDUFB11 COL1A1 SCARF2 PTPN22 UBE3B DPF2 ANKS6 DNM2 XK KRAS HEXB IDH2 MYH6 IRF5 HLA-DQB1 ERBB3 DUX4 TBX19 SIX3 IDH3B MTHFR FANCB TERT EPB42 TRNL1 ZEB2 ODAD1 NECTIN1 COX1 ARCN1 COL1A2 LDLRAP1 TP63 SMAD3 F13A1 CAV1 GJA1 VPS33B CASR WDR35 LIG4 LARP7 CCDC40 CUL7 DDRGK1 IL2RG PLOD1 HAND2 PRRX1 SACS SCN5A WT1 CD96 WT1 TGFB3 PRPF3 ACTA2 BBIP1 SLC4A1 HAMP LMNA GBA CYP11B1 SGCG IDUA TRNL1 CTSK KLF1 ABCC6 SIM1 SETD5 SAMD9L SF3B1 ESS2 NCF4 DRC1 FERMT1 TPI1 NFU1 NDUFS2 COX7B SCAPER DNAH5 SAMHD1 MAN2B1 KCNJ18 FXN AGXT ZMPSTE24 ALDH18A1 ACTL6A GFI1B D2HGDH EOGT GP9 CEP290 HCCS SMARCB1 PIGV GMPPB TRIM32 DNAAF4 HPS1 KIF15 ODAD4 SPECC1L TDGF1 PMM2 SGSH WAS SOX9 DCAF8 HAVCR2 ND5 CDKN2A ARX GNPTAB SEMA3E IL17F SCN10A LRRC8A SLC35A2 CCNO LMNA MYL2 SOX2 NKX2-5 NOS3 SETD1A NEXN BMPR2 CDK8 POMT1 ERGIC1 TMEM127 NCKAP1L CC2D2A JAK2 HNF1A BAP1 DKC1 CYBB COL1A1 PAFAH1B1 VHL SCN5A TTC7A FOXH1 NDUFAF5 TNNI3 SLC25A11 PAFAH1B1 ND1 ITGA8 GLMN MYD88 EIF4G1 ARF1 KCNJ5 SLC20A2 PRNP RRAS XPA GATA4 AKAP9 STRA6 SDHA FGF17 FANCC TRNW ARMC5 COA8 PSAP DHCR7 PTCH1 CALM3 MEN1 CLCNKB MAB21L1 PROK2 CKAP2L CC2D2A F7 BPTF COX10 MGME1 TKFC ADAM17 CRYAB PLAGL1 ABL1 NDUFS1 WASHC5 SMARCE1 INTU ERCC5 ACTN4 STAT3 DYNC2LI1 TRNV HGD HYMAI WNK4 LIFR SHH AEBP1 MEFV DNAI2 AKT1 ND4L NFIX NFKB2 DCDC2 PIGL TGFBR2 ATP6V1E1 XYLT1 CRELD1 PTPN11 DLST MYH7 FOXF1 SDHAF1 TGFBR3 GDF2 LARS2 GDNF RPS6KA3 PROKR2 APC2 TNFRSF1B CTNS SMARCC2 FGFR1 PQBP1 COX15 PPOX F10 PNP GLUL PKHD1 NKX2-5 HYLS1 CAV1 BLM ASCC1 MYH6 MEIS2 KCNJ11 TFRC IDH1 PEX6 RPS26 COL6A3 CIB1 SOS2 RPL18 DVL1 RHO TGFBR1 RPGRIP1L TRNK CEP120 EPB41 CYP7B1 FECH SF3B4 UBE2A CRYAB MNS1 FGFR2 MEOX1 VAMP7 LMNB1 GP1BA ARL6 JAK2 NDUFAF1 SRY CFC1 DNMT3A EPAS1 KCNQ1OT1 WNT10A TANGO2 GATA6 TNFSF4 DYRK1B GATA6 BSCL2 RUNX1 ATP5F1A AKR1D1 DHCR24 OFD1 ABCC9 USB1 TSHR HTRA1 THSD1 SMC1A SVBP GYG1 ALB F8 COL2A1 TFAP2B COL3A1 ABCG5 ALDOB DLL1 IFNGR1 SDHB TNFRSF11A CEP57 CASP10 PTPN22 RAB3GAP2 ABCA4 TERT POGZ F8 CA2 PIGP PEX11B NOTCH2 COL5A1 NRXN1 CD81 NODAL MYBPC3 ANKRD11 SDCCAG8 F13B PPARG NDUFA2 CSGALNACT1 SF3B4 STXBP1 BCOR HADHA SNCA DNMT3A ARL2BP DSP KIF11 WRN SLC37A4 GNAQ SCN9A AGXT EDNRA AVPR2 CCND1 RYR1 ATP6V0A2 XYLT2 MYL3 NBEAL2 ODAD4 CACNA1C FGF8 RIT1 RLIM GATA1 TFAP2B TMEM43 F9 MEF2A DISP1 CNGA3 GPC3 TCTN3 PRF1 ETV6 SLC29A3 CLCF1 NPHP3 TCF20 IL17RA CANT1 LMNA FREM2 RAG1 FRA16E LMNA LMNA CPLANE1 DLL1 EIF2AK3 AKT1 HSPG2 FAN1 G6PC NFIX MUC5B EWSR1 ZMYND10 ACTG2 SDHC DHODH SGCG PTCH1 CD79A ARL6 COL5A2 FIP1L1 PBX1 LRP5 SMARCA2 SOX9 RPGR SCO1 SPECC1L GINS1 GLRX5 TGFB2 PIK3CD PHOX2B BRAF ALAS2 TCTN1 SLURP1 EBP ECHS1 NF1 ARHGAP31 GATA4 IDH3B CDH2 CSNK2A1 GLI2 PROS1 ALMS1 PEX26 SIX3 FGFR2 ATRX TGFB2 FGF8 PSAP ACAD8 BCHE NPHP1 AP1S1 CHST14 POLG WDFY3 LRIG2 DCX NDP DNASE1 NIPBL POU1F1 CEP41 OPA1 ARMC9 TULP1 SDHA IFIH1 TWIST1 RNF135 GATAD1 ND3 MYRF ND1 BRCA2 APP IFIH1 ND5 FXN FOXE3 APP BRCA1 FIBP NXN PEX3 ATPAF2 CIZ1 EYA4 ALDOA ORAI1 MTAP CD19 COX1 CEP104 LMNA RAI1 GUSB LRP5 GNE NGLY1 TMCO1 SAMD9 SDHA F13A1 POMP GMPPB GUCA1B PKP2 NPHP4 HDAC8 TRAPPC11 ALDH18A1 PUF60 PTCH2 SMAD4 RANBP2 KIAA1549 MPL SCN5A OCLN THBD DOCK3 SUMF1 SNAI2 MYL2 PIK3CA CYTB FAH STAG2 POLR3A KRT83 SEC23B GATA6 FOXC1 MYSM1 SERPINC1 SARS2 GJA1 CDKN2A ABCC8 CPT2 CBS TET2 PRPH2 ZMPSTE24 SDCCAG8 NR3C2 TCF3 RPL11 NKX2-1 NDUFA4 ZMPSTE24 TCAP PACS1 ALG12 KMT2D RPL15 TGFB1 IGF2 CKAP2L CASR CCDC47 GGCX NOTCH1 RRAS2 PDE6H ADCY5 MYOZ2 HLA-DPA1 CHD7 RPGRIP1 RSPH3 GNAQ SELENON RYR1 CLPB PIGN ND3 SMC1A TGFBR1 IDH1 PADI4 CFH HSD3B2 TRNN SUFU MRPL3 FOXF1 KLRC4 COG7 B3GALT6 SMAD6 WWOX USP9X ATP2C1 PDCD10 PIGU KRT5 KCNJ2 NDUFAF6 CITED2 NLRP3 ESCO2 RPL5 ZFPM2 ELN JAK1 ZFPM2 NR2F2 FGF8 TKT WASHC5 HLA-B CTU2 SETD2 PNPLA2 ATP6V1B2 ARHGEF18 FBN1 JAG1 MEN1 BMPR1A KIAA0753 ATP6V0A2 ZNF423 STK4 GCH1 AKT3 PMS1 C8ORF37 CPN1 RHAG POGZ DSP NDUFS2 F12 JAK2 ATRX TTN BRAT1 FUCA1 CFH ADAR KCNE2 JAK2 NLRP3 CCDC103 CEP120 HBA1 AGK SMARCE1 ERCC5 CLCC1 GPD1L GUCY1A1 PRCD AGGF1 DOLK DCHS1 TRDN CALM1 FSCN2 FAM161A TNNI3K MRPS22 KRIT1 FGFR1 DMXL2 DNAH11 IL17RC FLNA FCGR2C NSMF NAA10 GNAS KDSR KIZ MKKS LDB3 DNAI1 AGTR1 ERCC2 BRF1 IGH LRRK2 GLI2 FGG SNRPB IL10 FZD2 QRSL1 SLC4A1 STEAP3 SLC26A2 OFD1 GJB3 PEX13 SCN9A MCTP2 ANK2 FGF8 PIK3R1 EP300 SCNN1B CASP8 KCNE5 EFTUD2 RP1L1 SCN1B PLVAP FOXH1 IMPG2 SDHAF1 DNAAF1 CDH23 TDGF1 IL2RA MAP3K7 COL4A4 FGA PDE3A USP8 REN AMER1 CC2D2A TERT GJB3 ZIC2 ARID1A WDR35 PRKAR1A PRDM16 RIT1 BGN WIPF1 GNA11 SF3B4 F2 NF2 SLC29A3 SLC19A3 FAS RNASEH2A DYNC2I1 TGIF1 FLNA DCLRE1C SMAD4 BBS1 PALB2 GTF2IRD1 CFI TET2 KDR FADD APOA1 COX7B AKT2 TAB2 PDX1 SLC39A4 MYLK SMC3 FKRP SLC29A3 PLIN1 FLNA FOXE1 SPARC GBA GATA3 COL6A2 PCARE KLF13 BANF1 ESCO2 MYH11 SCN4A FBN2 DCAF17 RTEL1 RPGRIP1L LIPC SBDS KRT9 HMCN1 CACNA1D FANCE KRAS TLR4 ETHE1 GPD1L PEX19 XPR1 TRNC FANCA ODAD2 NEK9 FBN1 IFNG SDHD ANTXR1 ELANE CXCR4 COL4A3 CENPE BBS4 DMD C4A IFT88 UROS KANSL1 MMP1 FMR1 KRT16 F13A1 PCCB TSC2 NR3C1 PRPF8 SETBP1 USB1 LAMP2 TET2 BPGM MVK NKX2-1 SLC17A5 CTCF PNKP DDX3X RRM2B GFI1 RNF113A CLIC2 MAF DDC ALG9 KAT8 TMEM237 NEBL STK11 IL10 SLC7A7 MED12 CDKN2B LONP1 ERBB3 RET JAK3 PEX10 OTX2 SYNE2 AICDA GLB1 GTF2H5 ZFPM2 PLOD1 RPS28 PRDM16 COL3A1 IKBKG ITGA3 ITPA CIITA GBA DOCK6 ACTC1 JAK2 KIT CDC45 CARD11 GALE CFAP298 PEX5 DCC COL7A1 TRPM4 WNT5A SHANK3 MTHFR TRAF7 MAP2K2 LIMK1 NRAS HLA-DRB1 EXT2 LMNA FBN1 SOS2 HBB PSAT1 FANCI MITF TNNI3 SALL1 PAX8 TARS1 NSD2 DNAAF3 DAXX DYNC2LI1 NLRP3 NPHP3 NPC1 HJV TNFRSF1A HLA-DPB1 SYNE2 DSG4 RINT1 LZTR1 SLC25A11 COL1A2 TRAF3IP1 TRPM4 MPIG6B VHL POMK GANAB TCAP NLRC4 EIF2AK4 RPSA GPR35 POMT2 CLRN1 LRP2 STAT5B FBXW11 NLRP3 CHRNA7 KRAS FCGR2A KIAA1109 CNGB3 SELENOI MYOC ATP8B1 CYBA ERCC6 SF3B1 PLN GNA14 FOXH1 MDM2 CAT TCF4 THOC6 PET100 ACTG1 ITGB3 NOTCH2NLC IL12RB1 CYP11B2 ATP6V0A2 CACNA1D PITX2 PKLR TCOF1 GAS1 ERCC4 PLN STAG2 TRNH KIF1B PTPN22 SPTA1 POMGNT1 HGSNAT F10 SLC2A1 ERCC3 IDUA HLA-B COL5A2 GM2A NDUFV2 TWIST1 MIPEP EFEMP2 NCF1 ADA2 RPS15A HESX1 KMT2A F2 IL2RB ERCC4 DISP1 CSRP3 ATP6AP2 BCR RBM10 PEX1 FGFR2 WNT3 COL1A1 AP1B1 GATA1 NR5A1 ACTA1 HCRT PDGFRB FASLG SMAD4 DMPK CYSLTR2 ROM1 CCDC103 CACNA2D1 HBA2 PEX5 ATAD3A FGF8 CCDC39 NEU1 COQ2 POU3F4 LMNA RPS15A NKX2-5 HBA2 PSAP HSD11B2 GJB4 ITGB3 MDH2 CA4 RP9 BBS2 PITX2 KCNE3 PALB2 RAF1 KCNN4 LMBR1 CFB WDR11 PEX2 WAC ARL6IP6 GNAS PLEC FLNA TCIRG1 TP63 NF1 SON PIK3CA NKX2-5 LMNA CHD7 CUL3 NMNAT1 KCND3 SLC4A1 BCS1L CAPN5 CD55 TTC37 LONP1 SHOC2 GJA8 HTRA1 GPC6 ABCA3 STK36 LMNA OFD1 PALB2 TECRL HLA-A SURF1 FGFR2 FMR1 APOB TFAP2A AP3D1 ACTA2 DHPS PEX6 AGT ZMYND10 SOX18 TGM5 TPM2 REST ZIC2 SNRNP200 SC5D PTEN TBX22 CTCF PRRX1 RAC2 CTLA4 PLP1 MEGF8 FGFR2 ZIC2 TAF2 EFL1 TTC8 DDB2 B9D2 PEX16 EFEMP2 PTEN PCNT NEUROG3 CFHR1 PDSS2 PIK3R2 FGFR2 SPIB TGFB3 FANCB USH2A TNXB MYH7 PRPH2 SCNN1G UMPS ACVR2B TRAPPC4 XPNPEP2 PTCH1 LEMD3 CRLF1 TNFRSF13B MYH8 COL1A2 MYPN MCIDAS F2 GNAT2 YWHAE CYP11B2 IVNS1ABP NSUN2 CHRM3 COL1A2 SLC25A4 STIM1 DHCR7 KRAS TMC8 RBM10 DPH1 LYZ KDM6B FAM13A MFAP5 CWC27 TBX3 MRAS MAN2B1 KRAS KRAS SH2B1 ANO5 TUB CDH2 CYP27A1 CBS NODAL IFT122 ACAT1 RBM20 NDUFB3 ROR2 COL4A1 MUC5B USP8 LIPN RTTN CRPPA SMAD4 HBG1 MED25 CCND2 SELENON COG4 RREB1 JUP PROP1 CEP57 DLL4 SH3PXD2B DES CEP41 TBX1 CEP164 RNASEH1 ADCY5 ERMARD NRAS GJA1 GPIHBP1 ZNF408 COLGALT1 PTEN AMMECR1 SDHC ATM DPH1 SLC25A4 AKT1 CYP21A2 FLNA NR2F2 TBX5 GCDH ATP2C1 STAG2 MED13 GATA6 GALNS ACTC1 IDH2 UNG MRPS16 CTLA4 KAT6B SMAD4 CLCN7 POLA1 SCN2A HBG2 RPS7 TNNI3 MMP21 GLB1 SCN4B NDUFS3 PIGL AKAP9 WDPCP ADA2 COL4A1 KAT6B VANGL2 SCN3B ACTL6B EED GLI3 PLCG2 ADAMTSL4 FGFR1 BRIP1 ZNF513 KCNE1 ERCC3 PTPN11 TRPV3 PRKCD FBN1 RIN2 CD79B ALOX5AP TECRL ABHD5 CD46 RAI1 MYT1L GP6 COL3A1 MAP3K7 ARID2 HDAC8 SPATA5 KAT6A BCOR DGUOK CACNA1C DVL3 BCL10 ABCB4 TP63 HLCS TRPS1 NEU1 ACADL BMPR1A RSPO2 NADSYN1 POLG2 GDF6 MAX SOX2 TRIP11 ARID1B SLFN14 POLG2 GAA UBE3A FKTN SNTA1 FGG CSPP1 TERT GDF6 ARFGEF2 DES UBE2T GALNT3 CSRP3 KYNU HCCS KCNMB1 HMGA2 LMNA CPT2 TMPO TTC7A SLC25A24 SKI STAT3 NRAS TTC12 RPS24 INPP5E BPTF FLNA TFAP2A RPL35 SLC2A10 RPS17 SDHA CYP17A1 INPP5E NLRP3 CCDC40 ASAH1 POLR1A CTNND2 MYH3 MVK NOS3 BRAF ATRX KCNJ5 APRT PRPF31 PIEZO2 MED13L KCNQ1OT1 NDUFS8 DTNA CCM2 PHKA2 NKX2-5 GJA5 POU2AF1 SNAP29 PAFAH1B1 FOXH1 SLC40A1 SULT2B1 HADH MBTPS2 FLII FN1 NRL PDE6G RBP3 PHKG2 ARPC1B CDKL5 SMARCA4 SP110 HCN4 TCTN2 ITPR1 FANCA PMM2 RASA1 ROR2 COX3 CEP290 ALPL POLG STAT3 DNMT3B PEX26 MGP ABCC9 OTX2 DLL1 KCNE1 SHH COQ2 ABCA1 EP300 DDRGK1 CLIC2 ITGA7 SCN9A IRF2BP2 CCNQ TNNC1 RIN2 ADGRE2 ALKBH8 NF1 CPOX OTC DHCR24 ARID1B MAK RMRP LIPT1 NEK10 SGCA FGFR2 MICOS13 SOX5 NEXN SYNE1 BIN1 TGM1 PSTPIP1 COL7A1 FOXE3 EDN3 IGF2 H19-ICR B3GLCT TUBB MYCN TNFSF12 PIK3R1 RASA1 F5 SARDH GSN SH2B3 DSP KIAA0319L SLC52A2 CDKN1B LIPA TELO2 SSR4 GJC2 DACT1 TRPM4 GYG1 FIBP RBM8A ZIC2 CDC42 LRRC56 LMNA TNNT2 DNAI2 NONO FAT4 PPCS ERCC8 USP18 VWF SALL4 PQBP1 GBA GJB2 GATA4 PDE6B GATA4 MYH11 HFE EED CDON PROC STRADA TTR SLC26A2 BMP2 WWOX BVES C8ORF37 CALM3 TPM2 CITED2 PTEN DYNC2I2 COX3 SNRPB MTO1 DHX37 SLX4 LOX ACTA1 IRF8 XRCC4 TRIP13 CDC73 ODAD3 DNAAF2 MANBA CFTR SCNN1A PPP2R5D WARS2 CCDC39 PKD2 TNNT2 PRKCH SMAD9 RYR1 ELOVL4 JMJD1C TRNT1 VPS33A ODAD1 ZMIZ1 CREBBP DIS3L2 AGA SETX SGCD BAP1 COX2 SLC25A20 KIAA0586 GTF2I POT1 EFTUD2 ALG9 KIF3B TRDN LMNA ACTG1 ALX4 COX1 ACAD8 ATP6 TRPC6 LMNA LAMB2 ERCC4 GTPBP3 PDE6A HPS6 GATA1 OTUD6B COQ7 LRP5 BEST1 MPI CALR CCM2 HBB VPS33A GDF3 CYP11B2 OTC SEC23B RPE65 ANKRD26 TET2 SCNN1A RLBP1 EPG5 DSP POLR1C SIX3 KRT5 GLA MTHFR HBB RPL35A ND1 FGG SDHD MARS2 CYP26C1 ANTXR1 APOB HLA-B TRMT10C ATP6V1E1 TRNE UVSSA CPOX CDHR1 SLC20A2 RBCK1 TWNK AKAP9 APOC2 NDUFAF3 SAA1 HBA2 KCNQ2 TAF1A NBAS DBH SMAD6 TEK EXT2 ABCC6 FZD4 NKX2-6 RAG1 LIPT1 F8 BAP1 NCAPG2 YY1 LPL TMEM107 DUSP6 SLC25A3 AHI1 PRKACA PNPLA6 RHOH FGFR1 PLAGL1 SNCA CREBBP SCN5A MYH11 EVC2 LDB3 GBA PRDM5 GATA6 WFS1 ND4 NDP SLC25A26 GBA SLC19A2 ND1 NEXN RARB NDUFAF1 ATP7A F5 DCHS1 GJA1 APOE ELN GNAS MAF PLCG2 HLA-DQB1 HBB TCIRG1 RAF1 EXTL3 ATP11A ND6 PCCA TPI1 SOX10 KIT NPPA APP GNAI3 NKX2-5 VAC14 PDGFB BIN1 LIPA TGFBR2 SPTA1 NDUFS7 FOXJ1 NEK1 RPL10 SCNN1B ECE1 KIT ATP7A FSHR CYBC1 SEMA3A SMARCD1 PRKAR1A JAK3 CD109 SPTB PCGF2 LIG4 FERMT1 MYH7 LZTFL1 SGCD IRF5 PTCH1 CA2 SYNE1 NTRK1 CHRNA1 FGA RSPRY1 KCNJ8 FRAS1 ERCC6 RNASEH2B P2RY11 NEU1 GP1BA MYH7 BTNL2 NDUFA9 KIF23 ND2 HSPA9 PIGA MEIS2 CACNA1S DNAH11 GCLC ACVRL1 POMT1 AGTR1 DMD POLG MSL3 PLCB3 GP1BB CAV1 KCNH2 TPP2 FARSB UCP2 IRF6 SALL4 PACS1 GLI2 AHI1 SHOC2 FUZ MAP3K1 MYH6 SRP54 IGHM CRKL C1QBP IL10RA COX15 SLC12A3 DLL3 RPS26 FERMT3 LOX RBPJ RB1 ZBTB16 LCAT CYP11B1 GIGYF2 SFTPC HSD3B7 IL12A-AS1 RECQL4 SIK3 MKKS SFTPA2 ABCA1 BNC2 IFT172 LMX1B SDHB SCARB2 RNF6 PARS2 XYLT1 CALR GP1BA GLI1 CRELD1 FGFR3 FANCF RAF1 SFTPC MPL PRKCSH ODC1 ALG10B IARS2 GPC6 GJA1 BAZ1B BRAF METTL5 JAK2 ATP6 DNAAF3 WDR19 CALM2 EBP STOX1 ICOS CALM2 DCTN1 SIX3 FKRP TMEM231 DNASE1L3 TTN SPRY2 TMEM70 FASTKD2 KIAA0586 ATF6 TRNF PLEKHM1 POU6F2 MYPN NBEAL2 SRD5A3 LRRC6 MIR17HG FGA KCNE1 B2M COG4 NHP2 CCDC22 TBC1D24 IGF2 KCNA5 CORIN TNXB MYT1L RAG2 MYL4 NDUFS8 DCAF17 PRKG1 NLRP3 FGA FOXRED1 MPLKIP TLL1 HESX1 NSMCE3 CCDC22 HADHB RPL35A EXT2 SCN1B NDUFB10 VPS35 NDUFS4 C8ORF37 ACTA1 HBB GABRD TGFBR2 APC BRCA1 AIP SNX14 SGO1 NDNF SCN5A NOTCH1 SDHD NCF2 FOXRED1 KIF5A HRAS TRNS2 ADNP PEX16 SDHD IL2RG MEFV TULP1 ATM ODAD3 RYR1 NDUFB11 CYBC1 SMPD1 CDON FIG4 DMD TREX1 ELP1 C2CD3 TWNK PNP BACH2 CRX TXNL4A CCDC115 KISS1R FUT8 ROM1 SUGCT PPA2 FAS CCNQ ERCC2 COG6 CBL PIGL GPC4 COG8 DSP NOD2 ODAD2 RAI1 CBL TGFBR2 CC2D2A MALT1 COL4A3 KDM1A SIK1 TAB2 TMEM237 SEMA4A PPARG SLC12A1 SLC37A4 VPS13A MYH7 TERT FAS TNFRSF11A COL1A2 ATOH7 DSG2 DZIP1L BCORL1 COPA AKT1 FRAS1 NSD1 LTBP4 YARS2 NPM1 DLEC1 ND6 TACR3 TMEM237 PML ND2 POLG IL12B MYMK NDE1 DISP1 ND5 TTC8 RPS10 KDM3B NODAL KIT PLG INTU CD46 HSPG2 AIPL1 RGR RSPH9 TERC CD19 CEP55 NOS3 RDH5 KCNH1 VHL GPR101 PMS2 HSD11B2 MCCC2 ANAPC1 B9D1 PGM1 TTN SLC26A3 IFT140 RNU4ATAC LMAN1 CRYAB GNS GNAO1 ABCC8 PLEC SDHB SMARCA4 RPS19 GPR101 RSPH4A AEBP1 RNASEH2C OBSL1 PEX1 LAMA4 PRPH2 FANCB ND2 POMT1 LIPA SPTB TERC CTNNB1 NR3C2 PDGFRA NTRK1 KCTD1 ANGPTL6 ASS1 ENPP1 SH3PXD2B IL2RG KRT14 RET PTGIS MED13L TRIP11 PAH PRKAR1A CNBP KCNQ1 COL2A1 CHN1 ELAC2 COG2 TMEM43 FLT4 RYR2 DBH FBXL4 ATP5F1D UNC13D SOX10 CACNA1S KCNH1 RNU4ATAC FOXH1 CDH23 PIEZO1 SOX4 JAK2 COL1A1 GTF2E2 FOXC2 NF1 PRF1 GPI GFI1B POLG AKAP10 DVL3 IGSF3 PSTPIP1 CRYAB RHO DGCR8 SMCHD1 MLH3 SIN3A SCN5A ERCC2 GATA4 SPINK5 FANCL NDUFA1 NOTCH1 NAGLU DLD STX3 MCCC1 ND2 GNPTG SDHB NEK1 POLH TMEM67 BRAF DSG2 MAN2B1 ARSA CALR HJV BRAF MYLK COL4A5 HADHB PAX3 SEMA3E RASGRP1 KIF7 LYST TKT H19 XIAP APP LRRC56 CITED2 COL4A1 FKBP14 WDPCP MCM4 RAG2 FAM149B1 PEX19 PHGDH PRKAG2 TNFRSF13C RPL26 SBDS POMT2 COL6A1 KIF7 MEFV PTEN TGFBR2 SLC2A10 OSGEP ELOVL4 SVBP VPS13B FTO RNASEH1 ALB COL1A1 GAS1 GATA4 NT5E PLN KRT14 HIC1 ANKRD11 SURF1 SIX6 RRM2B TACO1 TRNK ZFP57 VANGL1 LMNA GNPTAB FANCG TBX6 RAD51C ATN1 ELANE CASK PIGO SHH MYPN F8 KIF20A ARHGAP31 IDH2 MERTK KCNQ1 RAF1 SCNN1A PRKAR1A SIX3 CYP27A1 MUC1 DST MITF SMARCB1 RPL27 NKAP TOR1A RAI1 TRNV RBP4 RB1 DNAAF4 HPSE2 TCIRG1 FAT4 CYP3A5 CALCRL CSF2RB ALDH18A1 BMPR1A SAMD9 LPL CLDN1 NFKB2 MYD88 SELENON POLR1D STAT2 SFTPA1 TPM1 SKIV2L COL18A1 LAT TPM1 SKI KCNJ5 SEC23A LORICRIN XPC MTFMT SGCD GAS1 ATP6 STAC3 TRIP4 KCNJ2 ARX FLNA TBX1 ABCA3 GATA1 PKHD1 ZAP70 HTRA2 PAX3 VIPAS39 DYRK1A BCOR RAB23 FLCN CYP24A1 FGF23 CHRNG ACE NSD1 PIGQ TSR2 IL12A SGCB ALDH18A1 CDKN1A CCN2 ARL3 DKC1 FBN2 CASQ2 BAP1 ALX1 DSE SCN11A ROR2 HAVCR2 NDUFV2 DGUOK RIPK4 COQ2 TAB2 RPL10 PRKCD F2 CLCN2 C1S PEX7 SLC22A5 SH2B3 BUB3 GAS8 NTNG1 GNAS CYP17A1 RPGRIP1 LDLRAP1 TMEM127 ARL3 KRT1 DYNC2H1 TREX1 HOXA1 NR3C1 FGB LCAT KCNE5 PLOD3 COA3 SCNN1G TGFB3 SDHAF2 SDHD SLC39A13 STAT1 RDH12 PHOX2B TMEM237 FBN1 NRXN1 ABL1 CHD7 GP9 CTSA ERCC6 MMP2 CDAN1 CERKL PQBP1 NDUFS7 CYP11A1 LIMS2 XPA PDGFRA OFD1 VHL CDK13 FLNC LRBA TTC8 GDF2 TNNC1 PRG4 LAMC2 MMUT TRAF3IP2 KCNQ1 KATNIP FANCD2 GBA PYGL APP CR2 PIK3R2 IRF5 VPS45 PDGFRB CYP11A1 TRNQ RRM2B DSP CTSB RFC2 BCL11B NCF1 ALG1 CD3D PRCD STEAP3 MEOX1 SLC7A14 WT1 TANGO2 TLL1 TRNS1 SPTB MLYCD CASQ2 CTSA CST3 DDX59 NAGS TMEM260 ETHE1 NLRP3 PEX19 RAD21 TAPT1 MYH6 SLC7A7 INS MED12 CENPF HLA-DRB1 MAP2K1 NDUFAF4 NFIA PPA2 AFF4 POLE SMG9 MGME1 BMP2 RARA EOGT DYSF PTH1R PTH1R CACNA2D1 CBL ACTA2 GJB4 NAXD NDUFS4 NPM1 PTEN SMAD4 MTTP SOX3 TMEM216 CASK CEP290 FGA SP7 NOTCH1 PKD1L1 ACTA2 AIRE PHKG2 NDUFB8 WFS1 IFIH1 KRAS PEX1 PEX12 FBP1 CYLD VCL ZNF423 BRCC3 SLC35A1 ARSB MMP1 COLQ AGBL5 RPL27 WDR1 RHAG APOE SCNN1B AVPR2 OTULIN PIK3CA LMNA MID1 GPC3 PALLD GAS1 SOS1 AQP5 GALC MYH9 ABCC6 CRTAP RERE MKS1 PRKCSH CACNA1C KBTBD13 MKS1 ACVRL1 MPL FAT4 DOLK RIPK1 TGM5 FOXE3 DEAF1 NDUFAF8 HADHA CALM1 MRPS14 PSAP PEX12 ITGA2B PRDM6 ABCA4 LRP5 TNFRSF13B POMT2 PDE4D GRIP1 PIGW TGIF1 CLCN7 LAMP2 SMC3 MECP2 TCTN3 ATAD3A JAG1 PET100 MAPT RANGRF IL12A KRT18 TDGF1 GUCY1A1 CERKL TRNW STRADA PROS1 CDSN TGIF1 PRKAR1A ZNF687 NOTCH3 EHMT1 NOS1AP TGDS POR ANO10 TCIRG1 SDHB SPAG1 ATP6AP1 LFNG INSR CEP290 LRP1 IDUA WDR26 KRAS PHYH SDHB WNT5A SCNN1B CISD2 TRIM28 CFAP53 KRT5 POLR3A RSPH1 AKR1D1 FGFR1 TFR2 LIG4 IL7R TPM3 RMRP GNB5 DNAAF5 NXN GP1BB DNAH1 ENG KDM6A IQCB1 MINPP1 TBX20 HES7 LMOD1 TRNT GLIS3 FOXH1 TRNL1 DNAH9 DNAJC13 ALX4 ANTXR2 PRPF4 PLD1 GSN SMCHD1 RP2 ENPP1 SMARCB1 VHL TOPORS MLXIPL NKX2-5 HLA-DRB1 ADK MYH7 DNAH5 CPS1 TF CACNB2 EYA4 ND1 CPLX1 ITGB3 RYR1 CHST3 CYBB DPF2 BBS2 TP63 ERCC8 KRAS CDK10 SUFU MSX2 PEX13 GAS1 RPGRIP1L SFTPB DSP FBN1 ASCL1 GATA5 FBLN5 ISG15 GJA5 UFD1 TNFSF11 SCNN1B SERPINA6 NKX2-5 FHL1 TSC1 TXNRD2 APC PIK3CA YY1AP1 MMP2 CCDC65 GNB5 GATA6 ARID1A CACNA1S WAS SCNN1G NDUFA11 RAD21 KRT1 RAB27A MSH2 HLA-DRB1 CYP7B1 MAFB CDON PDCD10 ALX3 TBX1 TMEM67 INPP5E MYORG CCBE1 ITK LRP2 NPHP1 SCNN1A NPHP3 SCN4B PIK3C2A TMTC3 REEP6 GATA6 ELN TTC37 BTK RS1 RLIM IL7R ISCU HLA-DRB1 ACTB POMT1 LHX4 PSMB8 SAG CALM2 FANCE FCGR2A ADAMTS10 AKT3 CFHR3 RAD21 GPC4 COL11A1 UROS RAC2 CD19 NAGA CP ARL6 AIP CPT1A INVS NFIX FANCI FBN1 BAG3 DISP1 PRDM16 DNAAF5 FLRT3 NF1 FGD1 AIRE TNNC1 WNK1 PIK3CA SMARCE1 WRN BCR KCNQ1 SRCAP GP1BA TRNS2 SDHB GJA1 PCNT MRAS SGCB CASR DPM1 IDUA TOP3A ZAP70 MEN1 CYTB MYH7 NOD2 GNE ZEB2 ATP5F1E NODAL F13B LETM1 USP9X KRAS MAFB RORC PSMB9 PLAU FLT4 WNT4 TBCK ZNF469 FMR1 COX6B1 UBAC2 NKX2-5 LBR NME8 TRAC HEXA CRB2 PEX1 SLC26A2 HABP2 RERE ALMS1 AQP2 SERPING1 FOXP1 EYS RUNX1 TRNK FLT4 ASAH1 SNTA1 ACTC1 ARID1B HELLPAR KRAS DGCR2 MIF PROKR2 ABCA1 CCBE1 TSPYL1 MOG BBS5 TRPM4 STX11 IRAK1 CPLANE1 AAAS EVC PEX6 DDR2 ECE1 TMC6 FGFR2 PPP2CA RET MKKS B3GAT3 RAG2 C1R HYMAI PIBF1 TERT HMGCL ANTXR1 NDUFA11 IRX5 BTK HSD17B10 CAV3 GNAI2 RPS6KA3 CYP11B2 FTL CITED2 NDUFA12 SDHD TTN CSPP1 KCNJ2 KNSTRN TMEM216 CDON BRAF FLAD1 FZD4 ICOS TMEM126A KCNN4 FHL1 NNT PPP1CB DHDDS BMPR2 NDUFB11 ATAD3A STN1 DSC2 MYH7 NOTCH3 ERCC4 GPC4 IL36RN CNGA1 PEX16 PTPN22 NDUFA2 GATA4 GREM1 HPGD COX7B PSEN2 COL1A1 THOC2 DCLRE1C CHCHD2 GLB1 BTNL2 FLNC CCND1 TNNT2 DNAJC21 CAV1 PCCA TSC1 TRNK MEN1 DMD TNFRSF13C EPHB2 ADAMTS2 HMBS ADA2 SLC4A1 CFTR CAVIN1 C4A GANAB GBA NKX2-5 WT1 FKBP14 CLCNKB PPP1R15B SOX18 CCR6 IFNGR1 BSCL2 TCIRG1 DDX11 STAT4 PDE8B CHST3 AMER1 TMEM216 TJP2 NDUFS1 PDGFB ARVCF PROC NFKB1 MTFMT PGAP2 SLC26A2 DNM2 RECQL4 MKS1 KCNJ11 EHMT1 POLG XRCC2 KLHL7 FH RECQL4 NCF2 RPS6KA3 GGCX NDUFS8 CD28 MYH9 NT5E SLC25A20 SDHD NDUFS2 KRIT1 COL3A1 WHCR ND4L CD2AP MAP3K7 JPH2 GATA2 TRNQ LIAS RET ESCO2 SFTPB EXT1 SPEG CYP11B1 TET2 BEST1 MBTPS2 COL2A1 NF1 OFD1 ANOS1 PHGDH HRAS TKFC TALDO1 TRIM28 TCTN2 GATA4 CD79B KDM6A TRIM8 FBN1 SLC25A13 FDFT1 POLD1 MAP2K2 NFE2L2 PIK3R2 MCFD2 CAV1 DOLK COX3 SMPD1 NLRC4 ECHS1 PIK3C2A COX8A GBA DNAJC19 PIK3CD NDUFB11 ENG ATP6 ALOXE3 ND6 DPM3 PDE6D ITGB3 SRP54 SCYL1 SOX11 EBP ERCC6 F11 IL17RD SLC30A10 EPHB4 COX2 CHRM3 MVK SDHC GREB1L DNAL1 CRB1 SH2D1A PEX3 CHRNA7 GLRX5 MAP2K2 GNE ACAD9 CD27 FN1 BSCL2 LTBP2 HNRNPU NEUROD2 GATA5 SOX9 ELN KLHL7 GDF1 MAX TDP2 LTBP3 CASQ2 ADAT3 TBX20 STAG1 STAT4 ADA2 FBN1 SMAD3 FGFR2 TCOF1 GMPPB NDUFS2 FBLN5 KDM6A RYR2 MAD2L2 SPRY4 TACO1 CLN3 MPLKIP RPGRIP1L SCNN1A RPGR RFWD3 HGSNAT CCND1 PROS1 ERCC8 UPF3B CD81 CARD9 LRRC6 PORCN MED12 DNAI1 IDH3A PKP2 SCN1B CTBP1 TNFRSF1A BRCA2 TBX1 CHRNA3 MPL STX16 ERCC1 RAG1 TREX1 SMPD1 ALG8 TBXA2R CHD7 ELN HADHA A2ML1 ENG STAMBP SDHC NEK8 PDE3A CFI ELP1 SALL4 APOA5 ESPN TBL2 EMG1 WT1 SRCAP JUP DMPK PEX5 DLD PPARG DYNC2I1 CASP10 IDS LTBP2 KDM5B IRF8 GBA TRNS1 DISP1 TRNE IVD ELN SNX10 RNASEH2A LAMA4 TRIO NDUFA10 SLC25A22 ARX LDB3 GNPTAB ERCC6 CACNA1C ALOXE3 KCNH2 SRY PIGO P2RY12 FGFR3 ABCC6 LEMD3 CLEC7A WDR37 DNAAF2 NOTCH2 CAV3 FOXRED1 ZIC3 EXT1 TNFSF15 PIGA MAP3K20 FBN1 KCTD1 DMRT3 CFAP300 PIEZO2 SLC25A24 CTNNB1 SCN10A TNNT2 GPC1 RYR2 SOX2 PSEN1 DNAAF6 FOXC2 INPPL1 ITGA8 EMD NID1 SERPIND1 IFT172 GJB6 PTF1A HBA1 MYC COL11A2 PDE6A PRKCD HYLS1 TNNI3 LYST BTD KCNQ1 EZH2 MED25 SDHC CTLA4 ADD1 RYR1 MNX1 AGL NDUFAF4 RLBP1 CD244 NAGA TUBB GATA4 PTPN11 AIP SLC25A4 FKRP FHL1 EPG5 NRAS PRKAR1A HIBCH TREX1 BCOR KCNJ1 FBP1 NEB SLC35A1 DNMT3A PDGFB MRAP PTPN14 RFWD3 CDH23 RPL15 FGFR1 RNF113A NODAL BICC1 GATA1 TTC8 GBA CST3 STRA6 RAC1 WRAP53 NR0B1 PIGM TMEM70 UQCRFS1 NDUFV1 CTSH PYGM ARID2 SEC23A IRF8 VHL BLM ACTA1 CD40LG ICOS CAV3 RPS27 CFHR3 PTEN ABCC9 COX14 THPO TDGF1 GGCX MED13L KIF7 NPHP1 NDUFA13 SELENOI PIEZO1 CYTB RP1 DDX6 BRAF WDPCP HBB ZIC3 MRPL44 NOP10 WNT10A FLNA ERCC2 CALR FHL1 ACD NEB HABP2 DPP6 PHF21A MYBPC3 NIPBL ITGA2 HYOU1 EGFR ACADS DES TPM3 RPL10 MTRR PGM3 KCNQ1 MTTP IL7R STAG2 STXBP1 PSMD12 FLI1 CITED2 TMEM43 SMAD4 PRKACG IFT81 HLA-B SPINK5 KCNQ1 RNASEH2C SP110 RBM8A TIMMDC1 ATIC BAG3 SLC39A13 IGH TOP3A DPP9 TMEM231 DCLRE1C SDHD GJA5 TGFBR1 TNFRSF1B WARS2 TNNI3 GTPBP3 ITGA2B TXNL4A AP3B1 TCTN3 GPC3 DVL1 FLNB KCNQ1 TTN NDUFAF3 AGA BBS10 FOXP3 KYNU COG5 FN1 PCSK9 TRMU SOX10 DNAH1 KCNJ18 OSTM1 HADHA AKT1 FKTN BBS2 ACADVL RPL26 DISP1 RNF213 CDKN1C SH2B3 GLI2 GLI2 COL4A2 EDN1 CYP1B1 TSC1 JUP TRRAP GATAD1 CHST14 IL23R BOLA3 MGP PLIN1 CFAP300 STIM1 SCN5A UMPS CTC1 ZMIZ1 SFTPC XPC CHD4 ND6 FRG1 ANK1 FKTN STK11 SPEG AK2 MASP1 GNAQ MYCN MYH11 LRP5 SOX3 PHYH HFE CDC42 TASP1 FOXA2 DGCR6 TEK HOXD13 B3GALT6 RPL5 SLC39A4 KAT6B NEK2 ACTA1 PRKAG2 SMN1 NLRP12 GDNF CHKB ABCG8 PEX10 MVK COG1 TP63 IFT27 SPEF2 COL2A1 ABCA4 ND4 CFI LRAT ATP5MD RAD51C MLX SEC23B FUCA1 PKDCC FGB HPS4 PIGT JAK2 ALG1 AHCY FOXC1 SUZ12 PIK3CA VCL DOCK8 DNAH9 LOXL1 COX20 HCN4 KLHL41 RAI1 RMND1 PIK3CA HRAS AFF4 ERCC2 DHX38 PTPN11 KCNE2 IFT172 ND1 RIPPLY2 NDUFAF6 MYBPC3 GGCX FAM111A SPP1 NSDHL ZFPM2 NDUFAF2 TBX20 VCL SPECC1L CPT2 GYS1 CLCN7 PTCH1 LEP LBR IGLL1 NOTCH3 PPCS SCO2 PTCH1 OTUD6B PIK3CA NKX2-6 PORCN FLNA TK2 FLNC SLCO2A1 FAH XIAP HES7 GNAS MEGF8 CD3E ABCB6 KCNJ8 EPCAM ATP6V1A TDGF1 VWF PEX6 MAT2A NFIX PSMD12 SCN3B ZNF462 RNF168 TBX5 FYB1 CYB561 ATM NAA10 COL5A1 ATRX MPL SERPING1 ATP8 ACAD9 PTEN SLC12A3 SLC25A3 PKP1 CPT1A TGIF1 ADA PSMD12 UBR1 PIGN BCOR NEK9 IKZF1 AGT TSC2 LEPR WIPI2 RASA2 CARS1 EPB42 LTBP4 BTK STIM1 INF2 APOA1 RPS20 RUNX1 KCNA1 TNNT2 WT1 NDUFS2 COMT CDC73 SBDS SCNN1G ARL2BP POLH GLA CTSB CLCN7 BBS1 PIGV LAMB3 MTHFR TPM2 ANK1 STXBP2 CSRP3 ACTB PTCH1 CPOX C12ORF57 IL1RN TP53 CCDC28B SNX10 TGFB1 GP1BB ALPK3 SALL1 VPS13B NDUFAF5 STN1 HAMP XRCC4 PIGT NLRP1 ABCC9 SOX18 ELMO2 ACP5 TWIST1 FLNA TRIM37 RPL31 FLNB SRD5A3 EPB41 SLC4A1 DMD WNT4 SERPINC1 CCN2 HNRNPA2B1 RET SMAD3 RP1L1 SDHB TREX1 CNGA1 HSPG2 AARS2 ATP7A MSH6 F5 TALDO1 RPE65 C2CD3 GLI3 FGFR1 SIN3A EYS SRP54 TINF2 BUB1 ARL6 KCNE1 AHI1 SMAD4 SHPK ATP7B ERCC3 TXNRD2 SCN5A SELENON GATA6 WAS ACSL4 MAPK1 F7 KCNJ11 DOCK6 YY1AP1 PDE6C PIK3CA MEFV DLL1 FLI1 CCR1 TRDN COQ2 COX4I2 FSCN2 HIRA JAM2 KRT2 TBX1 GATC NHLRC2 ACADVL COQ4 PPARG CTLA4 GJA5 MKS1 LEMD3 HLA-DRB1 PYCR1 ADAMTS10 IGF1R CHST3 KRT10 SNRNP200 CACNB2 TBX3 PSAP RAF1 COL5A1 NABP1 FBN1 PRKAR1A NUMA1 FECH MYO18B DLL4 COL7A1 DDB2 TBX1 BMP2 FCGR2B SIX3 CALM3 SDHC LIG4 COA5 LAMA3 GMPPB MTOR NOTCH2 KAT6A BBS12 GNAQ NUP155 TP53 SCN1B SERPING1 SYT1 NPHP1 BMPR1A EGFR ABCC8 LYST LRP5 RNF125 GATA6 SCNN1A FGF8 PKD1 BBS7 BIRC3 ELN KMT2D DIS3L2 SMARCAL1 NR2F2 EPHB4 KLF1 IL6 TRNL1 KIF1B GNA11 KCNE2 ARMC5 FADD CCR6 KLHL3 HRAS HYLS1 LMX1B ADA RAG1 ACTN2 BRCA2 RPS17 SIX3 SDHA ABCB11 TNFRSF11B VWF APOE PCARE KYNU SOX4 SETD5 WDR19 TWNK POR TNFSF11 MGAT2 HK1 DNAAF6 IGHM DLX5 THOC6 TFAP2B OTX2 PEX2 SERPINF2 ZNF469 B4GALT7 CACNA1D BBS9 FGG PEX2 SETBP1 HOXA11 LMNA CTNNA3 WT1 KRT14 HYDIN CD40 CD28 SHH MNX1 SEMA4A MECP2 KCNK3 DSE ND6 DDX6 KIT FLNA B3GLCT KRAS ITCH SPAG1 TRDN GJB2 LMNB1 TSPYL1 IDUA DLL1 NDUFS4 ZNF513 FGFR3 KCNQ1 SLC19A2 PPP1CB MYOT RBBP8 TRNS1 CDON PRKACA RAG2 RPL11 KCND3 MAP2K1 MC4R STAR SCYL1 GYPC TBX4 SPATA7 NODAL GABRA3 RARB EDA2R HBB COX3 FGB MBTPS2 TMEM126B SUFU MYOCD NAA10 TSC1 PCCB FAS G6PC3 MS4A1 PROC LMNA KRT5 ZDHHC9 TRAIP RRAS2 MYH7 MED12 NEU1 CYP11B1 ZNF365 RAG1 NDUFA10 IGF2 PROP1 AUTS2 FANCD2 BCL2 TBL1XR1 PEX12 ACTC1 TWNK GATA5 LMNA DCDC2 MRE11 LMNA SEMA3A ABCA1 CNTNAP2 TMEM67 SLC2A1 BCL6 TRMT1 PSEN2 DLL1 LMX1B FOXC1 CNGB1 EMD GAS1 NDUFS3 TRAF7 HCN4 FKTN ANK1 PIGY HESX1 ACTN2 PGAP3 SMOC1 RPS29 TGIF1 PEPD TERT BAG3 ERCC8 FIG4 CDK4 TAF2 NUBPL SAMHD1 RBM20 ACTC1 MAPRE2 MAP3K7 SDHA KPTN KCNH2 ADA PIGY ATP7A IGFBP7 NUP107 C3 PKD1 CCDC141 FBLN5 NFKBIL1 PEX14 DSG2 TNFSF12 RASGRP1 GLI3 SDHA DNAL1 MLH1 MC2R AGPAT2 KCNN3 GMPPA KIT B2M FOS DYRK1A PEX7 KCNJ5 PAM16 EXOC6B ABCC9 SMO TBX1 CDKN1B CHRNG CYP7A1 ACTG2 CALM1 AMMECR1 DPM3 TMEM138 TNNI3 ADNP CYLD PAX6 KCNN3 NDUFV1 SCO2 CFAP221 RGR PKLR TSC2 MSX1 KDSR CD96 SCN2B SCN5A MFAP5 CLIP2 BEST1 PIGT PIGS SCN1B PDSS1 TGDS POR POMT2 CEP120 HNRNPA1 PPOX ATR GAS2L2 FASLG ALOX12B TPM3 IL6 AIP LDLR XRCC2 MTM1 CDKN2C PSEN1 MYH6 STAT3 IFT172 ANKRD1 SFTPA2 ITGA2B ATXN7 PDGFB B9D1 CDON ASXL1 CDKN2B COL3A1 TTPA PDHA1 MAGEL2 INSR PARN MAP1B NRAS NPC2 TP63 PRKG1 MYH7 PKD2 BLNK DIS3L2 DES CSF2RA SMOC1 MYPN ZIC2 SH2B3 HACD1 TBC1D24 AHCY CEP290 PCNA SUFU GPX4 PRPF3 NONO IFT80 EXT2 MYMK PARN FGFR3 SCN5A XPNPEP3 COQ9 TP53 NAGA NAGA TAZ CACNA1H SLC22A4 KCNAB2 USF3 GCK H19 HDAC4 ND5 PTCH1 SCN5A CR2 MYPN TNPO3 F5 F5 MPL HADH SERPINF2 DSP SHH HSD3B7 NDUFB11 AK2 ND4 ASXL1 GLI2 MYOC AHR TNFRSF11A SRSF2 SDHB NUP107 GATA6 TET2 SCN2B CCDC8 CTC1 KITLG NDUFV2 TBX1 IMPDH1 IGBP1 ENPP1 CFAP410 SOX6 PACS2 GPX4 BMPR1A SKI ASXL2 TERC ADAMTS3 TOPORS COG7 PUF60 CAP2 AGPAT2 MRPL12 TTN DVL3 IFT43 DSG1 SOX10 SNIP1 SCNN1G TBX2 GNB3 NGLY1 TF CYBA PIEZO1 SEC63 TMEM126B INTS1 CDIN1 FRG1 GBE1 TRNW RTEL1 PEX5 TET3 PCNA KRT8 MYPN ITCH PNPLA2 FOXP1 GNB5 MYO5B DNAAF1 PEX7 FGFRL1 AMMECR1 SUMF1 MTMR14 TPM1 FGFR2 CREBBP PDE6G NDUFAF2 CEP19 APC NDP HLA-DRB1 TERT PTPRC MC1R SCN10A GDAP1 SMO NAA10 ERCC6 SFTPB CACNA1S EPHB4 KAT6B NDUFB9 RFT1 CFAP298 ACTA2 KIF1B CPT2 IQSEC2 NSMCE2 COA8 DNAJC19 MYLK2 MESP2 ERF WDPCP ZEB2 SIM1 TANC2 LIPC TAZ FBXW11 TPK1
HP:0004375: Neoplasm of the nervous system
Genes 283
IDH1 MLH1 GNAS KIT TMEM127 TP53 PRKAR1A SMO PDCD10 NF2 CDKN1B MEN1 ASCL1 SDHAF2 SDHD MYCN VHL POT1 MDM2 PHOX2B SDHB GDNF SMARCE1 RNF43 WRN GDNF RET PTCH2 DAXX SETD2 LZTR1 PRKAR1A LMNA C11ORF95 BMPR1A PDGFB KIAA0753 PTEN BAP1 PMS1 PTEN SLC25A11 VHL SUFU ATRX PDGFB PIK3CA FH NOTCH3 PTEN TCTN3 SDHC TP53 OCRL ASCL1 NF1 RELA GCDH KIF1B ARMC5 CHEK2 CREBBP SDHA DLST DICER1 SMARCE1 APC MSH3 CDKN2A RET BAP1 TSC1 PTPN11 AKT1 MLH3 NSD1 NF1 CDKN2C SDHC OFD1 FAN1 SMARCB1 BRD4 TP53 MSH2 HRAS EWSR1 KRIT1 SDHC TUBB RET GLI3 PHOX2B SMARCB1 PTCH1 LMNA CDKN1B FLI1 ALX3 PTCH1 CHEK2 SOX2 SDHB CDKN2A SDHC CCBE1 BRCA2 IDH1 LRP5 TMEM127 HACE1 KIF1B DNMT3A RET APC CTNNB1 NTHL1 EPCAM MSH3 TP53 VHL FGFR1 NBN PHOX2B EPHB2 SLC25A11 PHOX2B MEN1 FAM149B1 GPC4 NF1 PTEN GLI3 ALX3 PHOX2B GABRD EP300 MAX APC ZSWIM6 RERE VHL PMS2 POLD1 KLLN KCNAB2 USF3 PTEN SDHD TGFBR2 PDE6D KIF7 WRN NF2 NRAS MEN1 TSC2 SDHD SDHB STAT6 YY1 MSH2 BDNF TERT CPLANE1 MAFA POLE PIK3CA IFNG SKI SIX6 CREBBP RPS20 SDHC SDHB WT1 MDH2 NF2 SDHA MYO1H SPRED1 PALB2 SUFU NF2 MSH6 MN1 TSC1 AKT1 IDH2 BMPR1A SUFU APC BAP1 MAX CCM2 ADAMTS3 NF1 SMARCB1 PIK3CA DLST PDGFRB RB1 FAT4 ALK NF1 SEMA4A NUTM1 GDNF SDHD RUNX1 APC2 PTCH2 SDHB TOP2A KRAS RAF1 OFD1 SMARCB1 PIK3CA CCND1 SDHD LMO1 RET CPLANE1 SDHD RET EDN3 AKT1 PHOX2B DICER1 SEC23B SDHB RET PTEN SDHD MSH6 NAB2 SDHB ALK GCGR GPC3 TRAF7 SDHAF2 L2HGDH TSC2 NF1 SETBP1 SDHD SDHC DNMT3A TMEM216 EPAS1 SMARCA4 BRAF SDHB AKT1 LIN28B SMO KEAP1 BRCA2 CDKN1A EDN3 PIK3CA TUBB MAPRE2 KARS1 CDKN2B MLH1 ALX1 KIF1B VHL DMPK PMS2 NF2 SUFU CDKN1B WDPCP PRDM16 APC NBN GLI3 ERBB2 NTHL1
Protein Mutations 3
G156A G20210A K27M
SNP 0
Protein Mutations 1
G20210A
SNP 0
HP:0001513: Obesity
Genes 490
NR2E3 WT1 LMNA TBX3 POGZ PROK2 DCC MID2 SDCCAG8 ZNF41 RAB39B LIMK1 CNKSR2 PRPF4 PDE11A RP2 USP27X BBS10 CTNNB1 KIDINS220 FGFR3 XYLT1 PDE6B TOPORS GP1BB BBS7 GATA4 ARL2BP KCNJ11 MLXIPL HS6ST1 CEP290 GHRL EGF TAF1 PRKAR1A SEC24C PROM1 BBS12 POMC NPHP1 CARTPT C8ORF37 APOE DMD ZBTB20 BBS2 SYNE2 BLK UBE3A CCDC141 TMEM43 FTSJ1 HCFC1 FEZF1 SOX2 CACNA1S CDH23 BBS7 EMD ELN IFT172 CEL MAGEL2 TMEM67 JMJD1C UFD1 NIN ARMC5 CREBBP MKKS PDE6A BAP1 FHL1 GTF2I NEUROD1 USH2A SIN3A KIF7 RBMX PCARE CXORF56 EXOC6B MCM3AP LEP TBX1 HERC2 MED12 PDX1 OTX2 USP9X ARL6 LZTFL1 PWAR1 ADRB3 BBS9 RPE65 REEP6 RLBP1 HNF1A ERMARD TTC8 POMGNT1 INPP5E WDPCP CUL4B SAG SDCCAG8 SDC3 HESX1 KMT2A BLK RAD21 SEMA4A MOG ATP6AP2 CEP164 ARL6 BBS12 POMC MAN1B1 CTSH ALMS1 HSD11B1 NPAP1 CDHR1 RERE BLM HCRT ARNT2 FLRT3 BBS4 ROM1 SNORD116-1 ARHGEF6 ZNF711 ZNF513 GDI1 GNAS VPS13B RP1 FTO DDX6 PCNT POU3F4 TULP1 DUSP6 MC4R PNPLA6 SYP CREBBP SPATA7 LMNA GABRA3 H6PD CA4 NIPBL GNAS MKRN3 FMR1 SNORD115-1 RP9 MC3R MKS1 BBS2 PHF6 SUFU GNAS-AS1 WDR11 TSPAN7 MERTK GNAS MTTP PRPF6 NR0B2 GNAS BAP1 PRKAR1A MYT1L HNF4A RAI1 DYNC2I2 RPGR BBS9 SMARCB1 NKAP RAB23 GUCA1B LAS1L ZNF365 ALMS1 PAX6 HDAC8 ATRX TRAF3IP1 HDAC8 KIAA1549 CNNM2 PROKR2 MOG SEMA3A BBS5 PAX6 LEPR LZTFL1 SYNE1 SNRNP200 MKKS SMC1A PRMT7 CNGB1 MEGF8 CLRN1 TTC8 MAPK8IP3 TRAF7 AKT2 SETD2 IQSEC2 PCNT PPARG P2RY11 HESX1 BBS10 NDN POMC RAB23 MECP2 SOX10 PRPH2 PTCHD1 KCNJ18 BBS2 INS ACADVL LIPE KMT2D DHDDS WNT4 HLA-DQB1 MKRN3-AS1 KLF11 IDH3B TUB BBIP1 CCDC141 FRMPD4 CNGA1 ARL13B ADCY3 ACSL4 SNRPN PHF21A GNAS GNAS TBX3 STX16 ARL3 SH2B1 TUB SMO HUWE1 SHOX CYP7A1 NEK2 PRPF3 PAK3 RDH12 TCF20 USP8 IFT172 BBIP1 FGF8 ADNP IFT27 CYP19A1 ARHGEF18 RREB1 ABCA4 SLC10A7 PDGFB LRAT ARVCF PKDCC IQSEC2 MTFMT CLIP2 C8ORF37 SIM1 TBX1 BEST1 PIGT SETD5 PDSS1 EHMT1 SPG11 SCAPER ZNF408 RPS6KA3 SIM1 SH2B1 BAZ1B BRAF SLC25A4 P4HTM CEP290 C8ORF37 APPL1 UPF3B ENPP1 TRIM32 AFF4 SMARCE1 RFC2 AIP RNPC3 PRCD DHX38 UCP3 IFT172 BBS5 SLC7A14 PDE4D ATRX WT1 FAM161A ANOS1 SHANK3 IFT172 FGFR1 ZNF711 MC4R LEP DLG3 NSMF PNKP GNAS MAGEL2 RPS6KA3 KIZ SLC7A7 ADRB2 RAI1 MEGF8 AFF4 HDAC8 FXR1 GNAS CLCN4 PSMD12 PHF6 OFD1 PAX4 TRIP12 MAGEL2 GABRD EP300 TRAPPC9 SOX3 PHIP PTEN KCNAB2 WAC NDNF FGF17 ARMC5 HDAC4 SH3KBP1 IMPG2 LARS2 HACE1 ADNP AGRP LEPR PROK2 IL17RD AGBL5 USP8 TERT BPTF THOC2 PIK3CA SKI AHR TRAPPC9 CRX CRB1 PRMT7 KISS1R NF2 COMT TBX1 IMPDH1 SMAD4 BBS1 GTF2IRD1 EIF2S3 BBS1 PRPF31 PCSK1 KLHL7 DEAF1 COL10A1 AKT2 SMC3 CCDC28B CUL4B ABCC8 FLII DPYD PDE4D NRL PDE6G RBP3 MRAP2 AGTR2 VPS13B KDM6A IPW IGFALS PROKR2 MECP2 XRCC4 TRIM32 FGFR1 SPRY4 MKS1 ALG13 HGSNAT CERKL AKT1 RHO IDH3A RP1L1 EHMT1 EP300 PWRN1 IGF1 TACR3 SIN3A EYS EIF2S3 BBS4 IL1RAPL1 LAS1L IFT88 ARL6 CREBBP AHI1 CHD7 ELN CEP19 ARL6 PRPF8 SLC9A7 PCSK1 MAK SRY DNMT3A HACE1 HLA-DRB1 TTC8 TNFSF4 DYRK1B FOXP1 KIDINS220 OFD1 TBL2 BDNF RGR FSCN2 HIRA GHR NTRK2 IQSEC2 IFT74 ZNF81 XYLT1 ALB PRDM16 IFT140 IFT27 MAN1B1 ARX PDE4D SIM1 GCK IGF1R CANT1 SH2B1
Protein Mutations 3
G20210A P12A W64R
HP:0000822: Hypertension
Genes 421
ELN FBN1 SDCCAG8 PRKAR1A ALX4 LIMK1 PDE11A NR3C2 FBN1 KCTD1 VHL GP1BB ANGPTL6 ENPP1 MLXIPL NKX2-5 LEMD3 NOTCH2 SLC37A4 RET SEC24C BBS12 NPHP1 MMP14 EGFR HLA-DPB1 KCTD1 ABCG8 SCNN1A SLC25A11 COX3 CYTB TRAF3IP1 HGD MEF2A VHL PKD1 TRIP13 GANAB RPGRIP1L ITGA8 CDH23 BBS7 ELN DIS3L2 SMARCAL1 GATA5 PKD2 NPHP3 KIF1B JMJD1C UFD1 ARMC5 CCR6 SERPINA6 KLHL3 LMX1B BRCA2 GTF2I YY1AP1 TNFRSF11B LMNA CTLA4 G6PC NOTCH1 MDM2 WDR19 MAFB TRPC6 RET LMNA ERCC4 XYLT2 SDHB CACNA1D TMEM67 LZTFL1 ERCC4 COQ7 MYLK KIF1B PTPN22 COL4A5 NPHP1 DNMT3A SCNN1A CACNA1D BBS9 CDH23 WT1 FGFR2 TGFB2 GLA BICC1 TTC8 ND1 ADA2 WDPCP ARHGAP31 ARL6 AIP FGFR2 ALMS1 INVS FBN1 VHL WT1 IDUA SMAD4 CFHR3 PDE11A WNK1 NPHP1 WRN SLC2A10 SMAD6 OSGEP ABCC6 LRIG2 SDHB PRKACA FLT1 INVS HBB POU3F4 NOTCH3 LMNA MC4R PRKACA HLA-DRB1 TRNK MYH7 HSD11B2 MYH11 VANGL1 EDA2R PHF21A MDH2 MKS1 BBS2 DNAJB11 TSC1 CFB MTRR GNAS MTTP PRKAR1A LMNA NF1 MUC1 ND6 HPSE2 CYP11B1 CUL3 EDA NPHP4 ALMS1 VAC14 TRNK SMAD4 THBD OFD1 STAT2 BBS5 SDHD PRKAR1A HMBS APOB ECE1 KCNJ5 REST RET MKKS FMO3 PRTN3 ERCC6 PKHD1 CFHR1 LRP6 CYP11B2 BBS10 SDHD FN1 PCSK9 CBS ZMPSTE24 SDCCAG8 ERCC8 CDKN1A IRF5 C3 TRNL1 PKD1 FUZ COX1 HLA-DPA1 MGP PLIN1 LDLRAP1 CLCN2 SH2B3 LYZ LOX MFAP5 GNAS CYP17A1 CYP11B1 B2M TMEM127 KCNJ5 PAM16 NR3C1 ACAT1 TRNK CDKN1B MEN1 SDHAF2 WT1 STAT1 BNC2 TGFB3 HMBS USP8 BBIP1 LMX1B GANAB HLA-B PDE8B IFT27 LMNA RREB1 MMP2 CYP11B1 TRNL1 ARVCF MLX GCH1 ABCC6 CLIP2 C8ORF37 OFD1 TBX1 CEP164 JAK2 NFU1 FH GJA1 SDHC BAZ1B CFH CYP21A2 JAK2 CEP290 CD2AP TRNQ TRIM32 STOX1 RFC2 AIP RET CYP11B1 LDLR SPRY2 TMEM70 NDUFAF6 GUCY1A1 WT1 CDKN2C TRNF POU6F2 ADA2 IFT172 ADAMTSL4 TRIM28 GNAS BMPR2 TMEM127 PKD2 CORIN CAV1 PRKG1 ABCB6 VHL SLC25A11 EXT2 MAT2A NFIX XPNPEP3 KCNJ5 GBA SCNN1B MAX CACNA1H ENG AIP ACTA2 TRNW ARMC5 H19 SDHD TRNS2 TSC2 COL4A4 BRCC3 FGA PDE3A USP8 SCNN1B FIG4 COX2 ELP1 WDR35 INF2 GPC3 SDHC ACTN4 ABCC6 SCN2B SLC2A10 TRNV SDHA COMT CYP17A1 WNK4 TBX1 SMAD4 BSCL2 ENPP1 SCNN1G BBS1 SUGCT GTF2IRD1 GLA CFI ACVRL1 MPL NOS3 BBS1 APRT APOA1 FOXE3 MAX TGFBR2 XYLT1 TP53 CCDC28B NOD2 ADA2 PLIN1 DLST CC2D2A FN1 COL4A3 BANF1 TGFBR3 SCNN1G LARS2 GDNF SLC37A4 PPOX PKHD1 CEP290 ACP5 KRT18 DZIP1L CCND1 ERCC8 GUCY1A1 TRNC CCN2 SMAD3 KRT8 SDHB FBN1 TGFBR1 SDHD POR COL4A3 BBS4 SDHB IL12B MYMK FMR1 ELN NF1 CEP19 CPOX ARL6 NR3C1 TET2 EPAS1 ND5 DYRK1B PDE3A ELP1 TRIM28 YY1AP1 CD46 TMEM237 TBL2 ERCC6 THSD1 CDKN2B HIRA ACTA2 WT1 KIF1B VHL NSMCE2 GPR101 COL3A1 ABCG5 HSD11B2 PPARG PPARG TNFRSF11A COL3A1 LEMD3 TRNS1 IQCB1 TRNE