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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation G20210A

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

There are 53 clinical trials

Clinical Trials


1 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. Liver Cirrhosis
MeSH:Liver Cirrhosis Thrombosis Venous Thrombosis Fibrosis
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

2 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

3 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

4 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

5 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

6 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

7 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

8 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

9 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

10 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

11 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 ---


12 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

13 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

14 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

15 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

16 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)

17 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

18 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

19 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

20 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 ---


21 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 ---


22 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

23 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)

24 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

25 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

26 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)

27 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

28 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 ---


29 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

30 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

31 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

32 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

33 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

34 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

35 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

36 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

37 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

38 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

39 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 ---


40 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

41 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

42 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

43 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

44 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

45 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

46 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

47 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

48 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

49 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

50 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

51 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

52 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

53 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


HPO Nodes


HP:0001873: Thrombocytopenia
Genes 451
PSMB4 GFI1B FANCG KMT2D RPS7 TREX1 ARHGAP31 MS4A1 SLFN14 GATA1 NPM1 ZBTB16 ERCC6L2 TINF2 GATA1 TERT HOXA11 VWF PLAU MTOR ARVCF FANCM IKZF1 RPS15A NBEAL2 RREB1 PSAP GATA1 SPATA5 TERT RAD51C CD81 PRDX1 WAS ANKRD11 FANCD2 RAG1 PRKACG HIRA SPATA5 FLI1 GP1BB RARA BRIP1 STT3B CD81 SEC24C UROS MECOM SLC19A2 HLCS ATRX FANCG TET2 TERT MPL NOTCH1 TERC CFHR1 FOXP3 RPL27 AP3B1 PKHD1 GFI1B CASP10 NIPBL CA2 LMBRD1 RPL11 PDGFRB STAT5B MYH9 STXBP2 ANKRD26 VPS45 SLC35A1 TET2 PHGDH PRKCD SLC7A7 PCCA DOCK6 LIG4 CD46 SF3B1 RPL15 TINF2 ADA2 TERT FANCD2 PTPN22 CFI USB1 SMARCAL1 STAT2 CR2 GBA G6PC3 GALC STX11 LIG4 DNAJC21 SH2D1A MADD PDGFB RPL35 SBDS FANCL FAS CTC1 GBA CALR PNP SP110 VPS33A MPL NHP2 NBN GP1BB FCGR2B ACD PTPN11 CTLA4 TREX1 TINF2 ZAP70 MAGT1 GATA2 C3 IFIH1 SLC7A7 TFRC NFKB1 ITGA2B FANCF APOE ITGB3 VWF ABCA1 SLC19A2 RPS19 FLI1 CASP10 STAT1 DLL4 DGKE TNFRSF13C UQCRFS1 RPL18 SALL4 MECOM SBDS TNFSF11 BTK KIF15 RNASEH2B SLC20A2 PSMB9 STIM1 TNFAIP3 CDC42 PRF1 ITGB3 FANCC ACAD9 GBA NUMA1 JAK2 TNFRSF11A CD40LG MMACHC GP1BB FANCI FAS SCARB2 SLC35A1 GBA MPIG6B SPP1 ITGA2 MMAA FOXP3 STIM1 FARS2 TPP2 RAG1 SBDS RFXAP FLNA HOXA11 ACP5 UROS RNASEH2A RASGRP1 FANCA ABCD4 COG4 DIAPH1 PRKCD GP1BA RPS19 RPL26 COG1 CYCS DHFR GP9 NHEJ1 ACTN1 NPM1 LBR CD36 IFNG CTLA4 MMUT TNFSF12 CFB POMP RPS28 MYSM1 CD109 HPS5 COL4A5 ERBB3 NSUN2 ACP5 NABP1 CFI DNAJC21 GUCY1A1 SRP54 HLCS WIPF1 LYST RBM8A FYB1 WFS1 ADAMTS13 RPS26 GATA1 RPS17 SCARB2 GBA APOE FANCF THBD SLC46A1 MMUT JMJD1C FANCE PALB2 HYOU1 TBX1 PNP SRC OCLN MYSM1 TNFSF12 JAK2 TBX1 FASLG FANCE RFXANK WIPF1 RUNX1 TINF2 GBA CORIN PARN BCOR NBEAL2 RAG2 TMEM165 RNASEH2C SAMD9L GNA14 MADD FANCC SALL4 MAD2L2 WAS PEPD NOP10 FLT1 CD19 SMPD1 SMARCD2 BRCA1 MPL PSMB8 MYH9 CDC42 RNASEH2A RPS10 STAT4 TUBB1 SAMHD1 KRAS BRCA2 MMACHC BRAF ALG8 FASLG NOP10 NOS3 COG6 ETV6 STOX1 SC5D CFH TALDO1 STAT3 TERC PRKAR1A SNX10 RTEL1 ESCO2 AGK RASGRP1 ACAD9 TREX1 XPR1 NBN STT3B NRAS MAD2L2 CLCN7 GATA1 ADA CFH FANCB EOGT STAT3 SLC46A1 ICOS HLA-B SLX4 RFX5 RPL31 BCR TNFRSF13B IRF2BP2 WAS SAMD9 RPL5 USP18 RPS27 RPS24 WRAP53 RPL35A FAS SAMHD1 UFD1 TET2 ASAH1 UBE2T SRP54 GBA WARS2 DKC1 DGUOK ITGA2B MMAB NHP2 NFKB1 SMARCAL1 IRAK1 IFIH1 TERT RNASEH2C CIITA TALDO1 GP1BB NFKB2 EFL1 LAT TBXAS1 RBM8A NLRC4 MAP2K1 CFHR3 PCCB GP1BA ERCC4 ARHGEF1 LARS2 RAD51 OCRL PRF1 DZIP1L MMUT JAM2 ARPC1B XRCC2 DKC1 GATA1 ITK GATA1 WDR1 CTC1 RBPJ TSR2 TET2 LYST PML GBA ADAR SARS2 TCN2 FIP1L1 ELANE RFWD3 TBL1XR1 EFL1 TERC DNASE1 RRAS2 HLA-DRB1 PARN NFKB2 ATP7B DKC1 RPS29 DCLRE1C HELLPAR ABL1 LRBA FANCA GP9 NHP2 BLOC1S6 RUNX1 FANCB COMT PRKCD MYORG FCGR2C UBE2T GP1BA OSTM1 IL7R RTEL1 RAG2 CD46 FCGR2A GP1BA VPS33A IVD KDM6A BTNL2 XIAP MVK
Protein Mutations 2
G20210A V617F
SNP 0
HP:0001392: Abnormality of the liver
Genes 1400
TNFSF11 UBR1 TRNK B3GLCT PEX3 NDUFS4 SCYL1 TREX1 CASP8 IARS1 SLC25A13 TRAPPC11 ABCC2 ALG9 GTF2IRD1 CAVIN1 EPB41 CD247 RASA2 APC NHLRC2 PEX3 TSHR NGLY1 ARVCF FANCM UCP2 ND1 ANTXR1 SDHD NELFA RREB1 NLRP3 HPGD CD70 LETM1 KIF3B IFT172 NPHP3 ARSA ASS1 TCF4 WDR35 SHPK RFX6 PSAP PEX11B PEX6 ERCC4 PAX4 SETBP1 HBB APOB RIT1 CEP164 ZAP70 ZIC3 STK11 STN1 GPC1 CYP27A1 GNPTAB DYNC2H1 PEX11B PDGFRL PEX1 PKLR GALK1 AP1S1 TTC7A BRIP1 TREX1 HSD3B7 PLIN1 FDX2 CD81 TNFRSF13B SEC24C POLG2 UROS KLF11 IL36RN PIK3CA CLDN1 SLC37A4 PIGA CD96 CYBA ERCC8 AKT2 FANCG FOXF1 TET2 NDUFV2 GLIS3 DLD PEX2 GNS AKT2 SLC25A20 RRAS2 CASP10 TNPO3 XRCC4 PC NEUROD1 WDR19 NOD2 CEP290 PTRH2 CCDC115 C8ORF37 CPOX SLC13A5 NSMCE2 HAMP VPS45 FBP1 SPTB PRKCD SPECC1L CBS DNAJB11 COG8 HOXD13 RNU4ATAC KMT2E PKD2 TTC21B PKD2 PDX1 NPHP1 AKR1D1 IFT27 CBL PHKG2 PEX19 USB1 NLRP3 SPTB TMEM70 PEX26 CR2 PEX12 SEC63 SPOP ACVRL1 FAH STX11 HNF4A SDHA NEK1 MADD ERCC8 PDGFB FANCL CPLX1 FAS ALDOB PSAP TCIRG1 CALR PEX16 ACADVL RINT1 FAN1 TET2 TKT RFX5 SLC2A1 VPS33A HMGCL MYRF RFT1 SLC4A1 XK NGLY1 DLL4 PCSK1 MSH2 C11ORF95 MVK MCM4 FLI1 AGPAT2 TINF2 ARSA IYD CFTR CR2 CASK ESCO2 LRP5 AGA TRIM37 MET NLRP3 SMPD1 KRT18 FANCF IGF2R NCKAP1L WDPCP GATA6 BBS9 LACC1 ACADVL APPL1 IFT80 CPT1A PEX1 IGF2 KIF20A STAT1 DLL4 PLEKHM1 RMRP KRAS IFT140 UQCRFS1 PEX12 HNF1A PRKCSH TRNN SCO1 BTK SLC25A15 MSH6 PEX13 ERCC8 BSCL2 SLC39A4 NDUFB11 RBCK1 HNRNPA2B1 PALLD RNASEH2B UGT1A1 NDUFAF8 SLC44A1 PSMB9 CCND1 AHCY ATPAF2 SMAD4 SKIV2L SNX10 HMBS TERT ALG8 ABCC8 SC5D TMEM216 NPC1 POMC FANCI FAS SLC22A5 SCARB2 HBB HFE LDLRAP1 HADH MMAA MYBPC3 PEX6 MET NOTCH2 PEX10 CTLA4 RPGRIP1L TRIM28 NPC2 SCYL1 ALMS1 CP VCP TUFM IDUA SBDS COG6 RFXAP GPC3 B9D1 TRHR DHDDS TTC7A PEX14 CYP19A1 INTU SLCO1B3 PTEN NLRP1 TIMMDC1 BBS7 DUOX2 HNF4A COG5 LDLR MMEL1 DNASE1L3 RASGRP1 FANCA DLD COG4 MARS1 PCK2 SOS1 KRT18 IARS1 ENG SCNN1B TYMP HNF1A DHFR GPI LPIN2 TGFB1 MAN2B1 KCNQ1OT1 TTC21B NPM1 NDUFS4 SLC2A1 HNF1A TSHB IL18BP ANK1 CTLA4 MMUT PCSK9 CEP19 KLF1 POLG2 IL21R APC IRF5 IL17RC SAR1B TERT PIGM PEX1 ERBB3 LYZ DYNC2H1 ATAD3A DNAJC21 CTNNB1 MPI PEX14 CFTR PSAP IFT80 RHBDF2 PPARG RTL1 TGFB1 MKS1 DDOST HBA2 TRNE TSFM NDUFB9 NPHP3 EWSR1 GCGR POU6F2 PLPBP PMM2 IDUA SFTPA2 IRAK4 APC HBG2 SLC29A3 RAG2 PEX10 JAK1 GBA MMUT JMJD1C SLC30A10 CPT2 NDUFS6 PALB2 GALT OCLN ETFDH TBX1 WDR19 FLNC NCF4 FASLG COX4I2 IFT172 RFXANK PEX12 PIEZO1 EPB41 BCS1L GBA CORIN ENG SPTA1 PTPN3 PHKB AGA RAG2 TPI1 FECH ALAS2 IL17F MADD MKKS FANCC PYGL LIMK1 PEPD BLK AMACR MCCC1 TWNK MKS1 CNOT1 APC ATP7B NCF1 CD3D NDUFAF1 IL2RB RNU4ATAC CDKN2A NDUFA6 SAA1 FARSA PMS1 IL7R RNASEH2A FAH GAA ABCB11 BRCA2 NDUFS2 TTC37 LMNA SPTA1 PKHD1 ND3 IL17RA KRAS TMEM216 KLF1 IGLL1 BRCA2 DPAGT1 SPTB IGHM PEX16 FASLG PEX10 SOX10 SLC39A8 FAM111B DNAJC19 GDF2 INSR HLA-DRB1 MRPL44 PEX13 NDUFA1 CYBB NEU1 CD3E BSCL2 ATP6AP1 MLH1 PTPRC BCHE TNNI3 GPIHBP1 SNX10 KRT8 PTPN11 CC2D2A FBP1 ACAD9 GNPTAB IDUA CTSK XPR1 ACVRL1 TFAM CYBB TFR2 POLG HADHB MTTP NRAS ARSA LPIN2 CC2D2A CLCN7 DOLK NEU1 ADA SETBP1 FANCB STAT3 ABCB4 PEX6 PEX2 PEX10 ETFB SFTPC SLX4 TSC1 SLC25A13 PGM1 A2ML1 RPGRIP1L PHKG2 HMBS MEFV GABRD ITCH BRCA2 SEMA4A PLAGL1 TRMT5 PALB2 NDUFAF2 ASXL1 ABCG5 DMPK USP18 VPS33B TMEM67 UFD1 HYMAI C1QBP AXIN1 TREX1 HNF1B HNF4A ASAH1 SLC29A3 NOTCH2 UBE2T SRP54 GBA DKC1 JAK2 TSHR TCIRG1 BBS5 POLG2 ERCC6 MMAB HBB NFKB1 IL1RN KCNQ1 TMEM126B ACADM EIF2AK3 ABCB4 DNAJC19 TALDO1 ARL6 PEX12 AP1S1 STEAP3 UNC13D PEX5 HADHA HFE SP110 NFKB2 TRAPPC11 PHKA2 ANK1 IDS CPT1A RNF43 PCCB NDUFAF4 SETD2 KCNN4 ERCC4 CTLA4 INPP5E HMGCS2 DZIP1L NEUROG3 PEX16 JAM2 COG1 POU2AF1 PEX19 DIS3L2 CD28 POLG PEX5 RHAG ADA2 BPGM UROD BCS1L RBPJ WDR19 MRPS7 HNRNPA1 BMPER CPT2 H19-ICR SLC25A13 ADAR TMEM67 MTRR GYPC MLH3 HBA2 GFM1 EFL1 TERC DDRGK1 FOS BOLA3 TF GLB1 MEG3 BBS12 DPM1 AIRE LIG4 PARN HSD3B7 ATP7B PIGS TPO BBS2 PEX11B TRIM37 GLB1 PPARG DCLRE1C SCNN1A UQCRB GPC3 CYP7B1 ALG9 NHP2 IGF2 EXTL3 MAN2B1 COMT PRKCD BLNK MYORG IL2RG OSTM1 IL7R SLC17A5 GCLC ABCG8 SMPD1 APC ETFA RHAG WT1 SPRTN LIPA RAB27A RAG2 SDHC IER3IP1 NR1H4 SMAD4 CYTB BTNL2 ADAMTSL2 INVS GDF2 PSMB4 CLCN7 FGFR2 GNE PEX6 ARHGAP31 JAK2 MS4A1 GNE G6PD BBIP1 DHCR7 MPI TINF2 INSR ERCC6 CAVIN1 ATP6AP2 LBR BBS1 IFNG KIT RRM2B LIPE HNF4A LMNA JAK3 BMP2 ABCG8 PIK3C2A LMBRD1 IFT172 PEX3 NBAS IFT140 BTK AMACR HBG1 CTBP1 LZTFL1 BTNL2 PEPD KCNJ11 GALT GAA SNX14 MFN2 SEC63 MYC ERCC6 DYNC2I1 TP53 CASR NKX2-5 BBS10 RAD51C NAB2 MPV17 TMEM67 GALE PSAP PEX13 REST TGFBR2 PRPS1 PLEKHM1 TTC8 CLIP2 ABCC8 H19 CYBC1 ELN RAG1 PKD1 NPHP1 EPB42 CLEC7A HIRA GP1BB DYNC2LI1 TCIRG1 CYP27A1 SLC26A4 PMM2 FERMT3 HSD17B4 PEX3 ELN FUCA1 EXTL3 HJV TMEM67 MYD88 AGGF1 ARSB MOGS RIPK1 KCNN4 NDUFAF5 HFE NOTCH1 PMS2 DUOXA2 FOXP3 WDR19 USP9X TRMU ND4 SDCCAG8 AP3B1 CBL APOC2 LPL CD28 PKHD1 SON LIPE PPOX TCF3 SUMF1 CA2 HESX1 CC2D2A PDGFRB CEP83 STXBP2 TARS2 GLRX5 HNF1B PCK1 IFT122 TET2 SLC40A1 BBS4 SLC7A7 ARL6 ABHD5 BCS1L STK11 PEX2 PCCA TTC37 DOCK6 DAXX INPPL1 DIS3L2 KRAS TNFRSF13C PRSS1 AP1B1 HSD17B10 SF3B1 SLC25A19 TERT DYNC2I2 TNFRSF1B FANCD2 SLC30A10 IL7R LMNA AGL GPC4 FECH H19-ICR TRNV NAGA RMND1 CIITA KIT GBA G6PC3 CEP290 PEX26 GUCY2D NDUFB10 TRMU TJP2 TMEM67 DNAJC21 PEX26 IL12RB1 SH2D1A XRCC4 SLC25A4 IDUA IL2RA ARG1 PEX19 NDUFA11 NDUFS3 MED25 GBA SLC35C1 HJV IQCB1 MRPL3 SP110 EPB42 VPS13A NAGA SERPINA1 NHP2 SLC4A1 ATP8B1 LIG4 ADK SLC25A20 RAG1 CEP55 RRAS SLC22A5 SKIV2L CLDN1 PSAP TREX1 ZAP70 ALDOB LMNA GATA2 ND2 ND5 IFIH1 IFNGR1 BRCA1 SLC7A7 NDUFS7 FGFRL1 APOE GATA6 JAM3 GCDH UGT1A1 CBS AP3D1 SOS2 ABCA1 NPHP3 TKFC FOXRED1 LIPA PEX3 CSPP1 ACAT1 PCCB CASP10 ALDH7A1 TNFRSF13C FADD BLVRA PPARG GCK KPTN MECP2 LBR AP1B1 PCCA SBDS KCNH1 SLCO1B3 MRAS MRPS28 TNFSF11 CYP7B1 DCDC2 PDGFRA PEX1 SLC25A15 NPHP3 ADA SLC20A2 LIPA PRF1 ND3 TRAF3IP1 ACAD9 GBA SLC4A1 GBA JAK2 TNFRSF11A SUMF1 GUSB CD40LG MSH2 DHCR7 LARS1 MMACHC F5 MIF GUSB ABCC2 NSD2 TRIM32 GBA LBR NCF2 MAN2B1 CEP290 FOXP3 RAC2 PKD1 TNFSF15 RELA SDHA TPP2 SDCCAG8 CIDEC RAG1 STAT6 CDKN1C IFT43 HAVCR2 HMGCL HBB SLC4A1 ACP5 XIAP RNASEH2A IL2RG ATP7A SPTB POLR3A AGPAT2 BTK CARS2 ALG13 ERCC1 ATRX TMEM231 ND1 COG7 IDUA MUC5B COG4 PRKCD NPHP4 LRRC8A RMRP SPINK1 PIEZO1 MPC1 EARS2 ABHD5 NDUFAF3 LCAT PSAP ABCA1 ABCD3 C1S CPA1 KCNJ11 LONP1 CTCF GANAB MSH6 TSC2 PEX14 DGUOK TNFSF12 TMEM107 PEX16 SLCO2A1 COG2 SDHB TRNL1 IDS CHD7 SLC37A4 BSCL2 DPM2 NAGS B2M ARSA CTNNB1 TNNT2 SRP54 CAV1 RPS20 SLCO1B1 DYNC2LI1 LYST PLIN1 CD19 HMOX1 APOA1 ADAMTS13 CCDC47 CYP7A1 ND2 SLC25A1 EIF2AK3 CPOX CPOX CIDEC ITCH APC2 SERPINA1 GPD1 PTRH2 LYRM4 GBA UGT1A1 APOE PFKM POLG TNFRSF1A SPIB CLCN7 YARS2 NSD1 NDUFS8 F5 KCNN3 LMNB2 DYNC2I1 RHAG GNMT HYOU1 TBX1 TNFSF12 EPCAM JAK2 PEX14 ATP8B1 TBL2 MLH1 AKR1D1 TBX19 ATP11C FANCE PDGFRA TGFB1 CTNS NCF2 PNPLA2 TNFRSF1B CEP120 DDRGK1 RFC2 FUCA1 SLCO1B1 PSTPIP1 NPHP3 SLC40A1 CTRC UGT1A1 NDUFS1 TMEM165 RNASEH2C NSD2 TRNW LHX3 FH RRM2B NOP10 PEX5 PEX19 IL12A IL6 FLT1 CD19 SURF1 LTBP3 SMPD1 BBS1 MPV17 B9D2 BRCA1 BSCL2 MPL PSMB8 DCTN4 KRIT1 CLCA4 CTSC LRP5 PROP1 ASL CLCN7 TRIP13 SLC25A19 FCGR2A MST1 ANKS6 ALDOA TRAF3IP2 TBX1 IDS SRSF2 TRIM28 WDPCP ALG8 CD79A PIK3R1 NOP10 TRNS1 TRAF3IP1 ALG2 RAF1 SCNN1G COG6 CD79B HEXB CTSA CPT2 PRDM16 STOX1 ASAH1 SC5D NDUFS7 HK1 TALDO1 NUBPL RPGRIP1 COX15 MAGT1 PAX8 ABCA1 STEAP3 HADHA TERC PHKA2 RTEL1 INS CYBA NDUFB3 PEX12 GPC3 HADH CASR SMAD4 RASGRP1 HBB CASR GBE1 RERE DMPK ICOS FADD MAD2L2 DCDC2 PNPLA6 SKI LMNA ABCB11 EOGT WT1 SEC23B TRNW ICOS RFX5 SLC25A13 ABCB4 GLB1 DCLRE1C ALMS1 NCF1 HBG2 CYBC1 CDAN1 FGA PARS2 LRPPRC RPGRIP1L IL2RG LHX4 KCNH1 TBX19 CDIN1 ACOX1 HBB TMPRSS6 TNFRSF13B LMNA TET2 HAMP NRAS PEX26 TP53 PNPLA2 POU1F1 WRAP53 FAS ABCG8 SAMHD1 WDR35 NDUFV1 ATP7A RFXAP TMEM199 G6PC1 PEX6 CCDC28B KRAS GTF2I DGUOK HGSNAT APOA1 NHP2 TG NEK8 IFIH1 TERT RUNX1 CLPB RNASEH2C ALG1 CIITA HADHA COX14 SLC11A2 RNU4ATAC OFD1 XYLT1 WDR35 EFL1 CD27 BMPR1A PEX2 RBM8A ATP8B1 MKS1 POLD1 NSMCE2 RAD51 POMC MMUT PRKCSH HBA1 CAV1 XRCC2 ITK VHL BICC1 RECQL4 AUH ERCC6 PKLR FARSB RAB27A NAGLU CTC1 PRSS2 PEX5 SLC5A5 LYST GBA JAG1 MYPN C4B LETM1 STX1A RFWD3 APC CFTR CEP290 WHCR GPC4 ICOS RFXANK CDKN1B ERCC8 HPD CA2 ND6 ACADM PRKAR1A MLXIPL VIPAS39 LZTR1 HLA-DRB1 MPL INPP5E PAX8 CD55 HLA-DRB1 MVK DKC1 DLK1 DYNC2I2 APOE KRT8 UGT1A1 POU1F1 SGSH GPR35 BAZ1B ERCC4 NDUFAF1 FBN1 RFT1 HBA1 WT1 TERC PIK3CA GNAS ATP6V1B2 PEX1 CPT2 ATP6 COA8 ACOX1 TCTN2 GANAB TMEM67 KCNAB2 VPS33A GALNS CEL PYGL NEU1 XIAP GALM BTD PRKAR1A FGFR2 MVK
HP:0002664: Neoplasm
Genes 1522
SF3B1 GFI1B IGF2 FIBP RPS7 WT1 COL7A1 TREX1 HSPG2 CASP8 SLC22A18 MC1R TFE3 KRAS PLAG1 OFD1 BRAF NUMA1 KRT16 PSENEN CTPS1 APC SOX9 FANCM OPCML CDKN2A RPS15A CTNNB1 SDHD EDN3 FCN3 NELFA GJC2 MALT1 HPGD GLI1 CD70 SPINK1 LETM1 PMS1 LRP5 HNF1B EXT1 TCF4 ELMO2 MET ANTXR1 KRT16 KRT10 PAX4 SETBP1 TERT WT1 SMARCB1 GJB6 HRAS STK11 BUB1B GNPTAB MYD88 MCC GJB2 BRCA1 TP63 PDGFRL TARS1 NF1 FGFR3 KARS1 BARD1 BRIP1 GATA2 IL1RN BRAF CD81 TNFRSF13B TYROBP AR LIG4 KLF11 ABL1 MVK BMPR1A PIK3CA B3GALT6 SLC37A4 SOS1 TSC1 FGFR3 ATRX FANCG TET2 KIT SRP72 MPL TP53 SMAD4 EVC2 MAPRE2 DLST BRCA1 DICER1 HRAS AKT1 RNR1 TSC1 TNPO3 XRCC4 DNMT3A NEUROD1 THPO MN1 NOD2 SRSF2 PPM1D FLT4 ATP7A IL7 KRAS GDNF WNT10A EPAS1 COL1A1 IL1B MRAP ADAMTS3 PRKCD SUFU PTCH1 ERCC3 KRT14 CXCR4 HOXD13 IGF2 LIG4 PALB2 BLM NRAS ERCC3 FOXP1 SDHD TP53 PKD2 PDX1 TINF2 ADA2 MYF6 RHBDF2 POU6F2 PHKG2 CDKN2A RUNX1 ERCC2 MAP2K2 WT1 USB1 GATA4 FGFR2 ACD CR2 MUTYH ARL6IP6 FAH MSH2 RASA1 NEK1 SOX6 NR0B1 LIG4 CDKN2B NF1 NF1 POLE RPL35 SRY SDHAF2 FANCL CPLX1 FAS PRKAR1A PHB SDHA CALR PIK3R1 FAN1 TET2 TMEM216 RSPO1 SEMA3D MDM4 SDHD HRAS NUP214 GJA1 PIK3CA CCND1 RNF6 MSH2 C11ORF95 MVK MCM4 FLI1 TINF2 KIAA0753 ECM1 ARSA ERCC2 SOX2 SDHC SLC26A2 MPL VANGL1 PUF60 RAD51D POT1 CR2 ESCO2 FOXE1 PMVK SRY GJB4 TRIM37 KIT EXT2 PDGFB KIF1B FANCF IGF2R MLH1 GDNF PIK3CA ASCC1 ASCL1 TCIRG1 APPL1 RPS19 BCL10 IGF2 NRAS FLT3 STAT1 BCL10 RMRP GNAI3 KRAS GPR101 BAP1 NKX2-1 MAX BMPR1A DDB2 SMARCB1 RAD51 FGFR3 ALX4 BTK MSH6 NOTCH3 DICER1 CXCR4 CCBE1 RET WT1 TP53 PALLD RNASEH2B WT1 ATR CCND1 KCNQ1OT1 SMAD4 AHCY STK11 FANCC TRNK BCL6 SMAD4 SKIV2L HMBS TP53 TERT PHOX2B SNAI2 BRAF TCOF1 FANCI NRAS REST SDHC HBB HFE CREBBP MET SEC23A CEP57 CTLA4 TRIM28 SMAD7 GNAS BRCA2 PALB2 FGF8 SBDS RET ALK GJB2 CPLANE1 GPC3 TCTN3 PTEN RB1 INTU CYP26C1 LEMD3 PRLR CDON NLRP1 GPR101 DHH HNF4A MMEL1 DNASE1L3 RASGRP1 ATRX CHEK2 FANCA SPRED1 DNM2 FLT4 CHEK2 RPS19 KLLN HACE1 HNF1A PTPN11 CDKN1B GAS1 BRCA2 KCNQ1OT1 NPM1 FGFR3 MC1R MINPP1 PTPN11 TSC2 ABCA5 BRCA2 PLCB4 SCN11A HNF1A BRAF RB1 CBL ARHGAP26 SUFU PTPRJ C1S APC IRF5 GNAQ GDNF TERT MYSM1 XPC TMC8 COL4A5 ERBB3 SLC26A4 CD96 NSUN2 PDGFRA FERMT1 TYR DNAJC21 MSH2 SH3GL1 TUBB RET BRAF ESR1 PAX3 RHBDF2 RTL1 WRN DYNC2LI1 ELANE EXOC6B RPS26 EWSR1 VHL PIGA GCGR POU6F2 RNF43 POLE BRAF MNX1 SFTPA2 CDH23 ASCL1 APC ACVR1 PIGL BAX RAG2 RSPO1 MSH3 PGM3 FGF3 FANCE MPL TP53 COL7A1 BUB1 TET2 PALB2 ACTB PNP SDHC EDN3 XPA TMC6 NEK1 GNA11 KAT6B KRT1 RUNX1 PAX7 NOTCH1 ENG CTNNB1 ETV6 MPLKIP PARN CDKN2A PTPN3 STAG3 MDM2 TP53 LAMC2 NBEAL2 VAMP7 GNA14 DCLRE1C CBL GCDH FANCC AXIN2 PYGL SOS1 BLK WRAP53 IDH1 KRAS CCM2 APC ASXL1 ATP7B ERCC3 SF3B1 EP300 BRCA2 MGAT2 NRTN CDKN2A DICER1 PMS1 RPS10 TBC1D24 FAH BRCA2 ASXL1 BCR C2CD3 KRAS IDH1 IGLL1 RASA1 BRCA2 CHEK2 PTCH1 RNF113A BRAF MBTPS2 EDNRB IGHM PDGFRB RAF1 MEN1 FASLG TUBB NDUFAF6 FOXI1 TGFBR1 EPCAM CYLD SDHB APC CYP2D6 TAF1 KRT17 BRCA1 BUB1B BAP1 GDF2 BUB1B ERCC2 TP53 KRT5 GATA2 BRCA1 RAD54B MRE11 STAC3 DNMT3A MLH1 BCHE EDN3 CDKN1B AURKA NRAS FLCN IDH2 EDN1 ESCO2 USF3 IGH POT1 ACVRL1 JAK2 NBN NRAS SQSTM1 TMEM127 ZFPM2 SLC12A3 NTHL1 ADA CHIC2 STAT3 SETBP1 FANCB FIBP STAT3 STK11 MLLT10 SFTPC HDAC4 NUP214 GLI2 SLX4 TSC1 ERCC6 TP53 CLCNKB KLF6 OGG1 JAK2 PAX6 RECQL4 RPL31 MYO1H FH RPGRIP1L SLC45A2 RPL10 RPL10 HMBS GDF5 TNFRSF10B PIK3CA GABRD TP53 BRCA2 SEMA4A BCR PALB2 ASXL1 KRT6B CCDC22 SAMD9 DMPK DCC ERCC5 RPL5 CTNNB1 RPS27 TRNS2 PTCH1 PTEN TFAP2A RPS24 RPL35A RET AXIN1 HNF1B ARMC5 UBE2T SRP54 SSX2 DKC1 ERCC3 JAK2 GNA11 LAMB3 GJB2 NFKB1 KCNQ1 GLI3 PIK3CA KANSL1 CASP8 MYC RECQL4 ACAN CACNA1S BDNF KIF11 MDH2 MSL3 FGFR1 TERF2IP HFE NFKB2 TOP2A GFI1 SRD5A3 PHKA2 MAX POLE MAP2K1 EYA1 RNF43 ALX3 SETD2 ERCC4 CTLA4 SIX3 LEMD3 OCRL CDH23 DZIP1L MSH3 AR CDC73 PDGFRL TWIST1 POU2AF1 DKC1 CALR LIN28B KRT6A GATA1 MC1R DIS3L2 CD28 CDC73 ADA2 UROD CIB1 TSR2 WNT5A TET2 PHOX2B BMPER KIT DLC1 MSTO1 H19-ICR SLC25A13 ADAR TMEM67 BMPR1A MLH3 POLR1C KRT6B FH EFL1 TERC BUB3 FOXC2 NOTCH3 KIT NSD1 FGFR2 SLC6A17 MAP3K1 TRIP13 MEG3 RRAS2 BMPR1A NF1 DPM1 LIG4 PARN RHOH BRCA2 NF1 TAF15 RFWD3 VHL H19 BCR KRAS VANGL2 KRAS SDHD DVL3 BIN1 ABL1 GPC3 HAX1 FANCA GDNF NHP2 IGF2 VHL CCL2 EXTL3 RUNX1 PRKCD BLNK MSH6 SLC22A18 IL2RG PTH1R SDHB AIP WDPCP APC KCNJ10 ASPSCR1 OCA2 TP53 WT1 SPRTN TET2 TAL1 L2HGDH KIT SDHC ERCC4 GPR143 PRKN SMAD4 SEMA3C TRNS1 BRCA1 SHOX PCNA FANCG CREB1 TRNH VHL MYLK BAP1 SUFU ANTXR1 POLD1 NODAL IGH JAK2 MS4A1 MEN1 TSC2 GATA2 DHCR7 TINF2 F13B RB1 COL7A1 SCN4A BMPR1A DDB2 CDKN2A SDHD CYP11B2 IL7 ARID1B KIT FGFR1 RET CDKN2A LAMA3 CHEK2 TBX2 TBX18 HNF4A GPC4 SHH LMNA BMP2 YY1 AKT1 WT1 BAP1 FZD2 SH2B3 BTK GATA1 RAD54L ATM CTBP1 PTEN SRY RYR1 CTHRC1 MFN2 PTEN RAD21 PTEN MYC SLC26A2 TP53 CTNNB1 RAD51C NAB2 NLRP1 SUFU DLL1 PSAP SDHB REST TGFBR2 TRIP13 IGH ABCC8 IL6 CPLANE1 H19 FANCD2 FGFR2 RET PKD1 DNMT3A REST CHEK2 GNAQ MXI1 BRIP1 DYNC2LI1 GNAS TP53 GLI3 DIS3L2 NRAS PICALM WT1 BAP1 MEN1 TXNRD2 MGMT PTEN MYD88 GNAS POT1 AGGF1 BUB1 PTEN PORCN HFE NUTM1 PHOX2B MSX2 PMS2 SLX4 H19 USP9X RPL27 GNAS SEC23B CBL CD28 PKHD1 AXIN2 TRPV3 KLLN SSX1 TSC1 PPOX KRT17 CARD14 HRAS TCF3 RPL11 CC2D2A GREM1 CHEK2 AP2S1 NRAS TRNL1 ALX1 CREBBP TCTN3 TET2 ESCO2 DOCK8 NRAS STK11 GCM2 TTC37 WT1 SMAD4 DAXX MITF BCL2 DIS3L2 POLR1D TDGF1 KRAS TNFRSF13C KIT PHOX2B SF3B1 RPL15 NF1 TERT TNFRSF1B FANCD2 MLH3 IL7R GPC4 H19-ICR SLC17A9 MEN1 MST1R KIT RAD50 TJP2 DNAJC21 PDCD10 MUTYH IL12RB1 SH2D1A FGFR2 NBN KRAS KIT CASR ENPP1 SDHB HRAS IKBKG PNP EXT2 BRD4 SMARCB1 REST COL11A2 TG KIT LIG4 SUFU NBN RSPRY1 CYSLTR2 SDHD AAGAB BLM RAG1 RNF139 RB1CC1 ACD PTPN11 SLC26A2 TREX1 BMPR1B DDR2 ZAP70 MNX1 MAGT1 AIP GATA2 AR STAR IFIH1 IDH2 BRCA1 USP8 RB1 FGFRL1 SMO USP8 RMRP SLC25A11 MLH3 FUZ DOCK8 SUFU NF2 KDR KRAS RPS14 CASP10 SRP54 ZSWIM6 TBXT PTCH2 EWSR1 TNFRSF13C MTAP NQO2 RPL18 DNAJC21 GCK ERCC6 KDM6B EXT1 SBDS CCND1 SDHAF2 KCNH1 CYLD LMOD1 PDGFRA CAT CHRNG TRNQ ADA NRAS TLR2 SHOX FGFR3 BCL10 TYR KRAS COL2A1 PTCH2 SMO GBA MSTO1 TREM2 JAK2 TMEM231 MSH2 ASXL1 RET DHCR7 NBN PIK3CA NSD2 SDHB EIF2AK4 PALB2 KIF7 PTPN11 PIK3CA HLA-DRB1 STIM1 TMC6 KIF1B TNFSF15 RELA AKT1 NPM1 APC SDHA SDHB STAT6 CDKN1C CDC73 PTCH2 KANSL1 ZSWIM6 FLCN HBB LZTS1 FN1 TRAF7 ACP5 CTNNB1 MLH1 EXT2 RNASEL RNASEH2A IL2RG ATP7A CDK4 CYP11B1 MMP1 SDHB ATRX ACTG2 FOXH1 OFD1 NEK9 STS MUC5B PRKCD PTPN11 PTCH2 LRRC8A RPL26 MSH6 NNT LZTR1 CDC73 PTEN AKT1 AKT1 SASH1 HRAS ANAPC1 PTPN12 KCNJ11 TCF4 GATA2 MLH3 ERCC4 GNB1 DISP1 IDH1 BCR GANAB MSH6 NR5A1 TSC2 GFI1 TNFSF12 TRNP MAPK1 IFNG FLT4 MTM1 WWOX HABP2 RPS28 HRAS SLCO2A1 ND5 SDHB CHD7 BRIP1 SLC37A4 MC2R XRCC3 TNFRSF4 NAGS PHF21A ZIC2 PCGF2 SMARCE1 CTNNB1 SRP54 CDH1 CDK4 RPS20 KCNJ10 RAD21 RNF6 COL14A1 SMO CD19 WRN SRGAP1 CDKN2C AXIN2 GPC6 WWOX HSPA9 FOXI1 CPOX RPS17 APC2 MYH8 SERPINA1 ATM LMX1B ENG POLH TGFBR2 DHX37 VEGFC KIF1B KRT17 DDX41 SPIB CBFB HRAS BCL10 PIGL FGFR1 NSD1 F5 KCNN3 BAX PIEZO2 RECQL4 CREBBP KIT PDGFB PDE6D ABCA5 AKT1 KLHDC8B TNFSF12 EPCAM RARA MLH1 GINS1 EVC PIK3CA FANCE WIPF1 NF2 PDGFRA PRKAR1A CDH1 SDHD PRCC TRNF PTCH1 TNFRSF1B WNT10A WWOX MAD1L1 MTOR WDPCP RNASEH2C NSD2 SAMD9L FH LPP NF1 KRIT1 NTHL1 IL12A HNF1A CDH1 SMARCB1 SMARCE1 CD19 FH FDPS TRPS1 ERCC4 SMPD1 SMARCD2 BRCA1 MPL CRKL SEC23A EXT1 PERP ATM FOXE1 CDKN2B CTSC SIX1 FAM149B1 CDH1 RAD51C ALX3 DLST TRIP13 ING1 PDGFRB FLT3 COL18A1 MST1 TGIF1 TMEM107 SRSF2 TRIM28 BAP1 ANTXR2 CD79A PIK3R1 MAP3K1 NOP10 PIK3CA POLD1 KDSR CCND1 TP53 TMC8 ALK MAP2K1 CD79B SDHC ECE1 PALLD CTSA PRDM16 IVNS1ABP CALR FLNA GPR101 BRCA2 ERCC2 DYNC2H1 TFAP2A COL2A1 DVL1 TERT APC TERT TEK EXT2 TERC ALX4 OFD1 LMO1 PDGFRB RPS14 DCC RTEL1 INS TSC2 FAM20C MYH11 GPC3 SCN9A SMAD4 RASGRP1 HBB TGFBR2 RERE NDP PLA2G2A TCF4 MAD2L2 SKI AIP HMMR SDHC SNAI2 PIK3CA LMNA PGM3 ABCB11 TAL2 WT1 VHL PIK3CA TCTN3 SAMD9L ICOS GLI3 RB1 SLC25A13 SDHC DCLRE1C GCM2 VANGL1 SIX6 WT1 PMS2 KCNH1 BARD1 H19-ICR GNAS TERT CIB1 B3GALT6 GJB3 ERBB2 SDHA KRAS CDC73 TNFRSF13B TET2 FGFR3 WAS SEC23B TGFBR2 TP53 NF2 SMARCA4 NF2 SLC26A4 ANTXR2 WRAP53 FAS SAMHD1 TP53 TET2 ATP7A PTEN SH3KBP1 CARMIL2 MVD PDGFB ABCC6 G6PC1 TRNK KRAS GPC3 PTEN NF2 JAK2 DMRT3 GNAQ RAD51 GTF2H5 TMEM127 TERT RUNX1 FAT4 AR HABP2 NR4A3 EP300 MINPP1 OFD1 RASA1 DLEC1 BIRC3 AIP CD27 PHOX2B BMPR1A KCNE3 PLCD1 RAD51 KRT1 MSH3 MITF EPHB2 DHCR24 RABL3 KRT17 XRCC2 NRAS ITK VHL BICC1 RECQL4 SMARCAD1 MYCN RET CTC1 PTCH1 JAK2 SRC SDHB PHOX2B AKT1 KEAP1 JAG1 VHL LETM1 NLRP1 MEN1 BRCA2 FLCN C2CD3 RFWD3 XPA APC APC SDHD FOXO1 MAFA WHCR GPC4 MLH1 ICOS CDKN1B MTMR14 KIT DICER1 EP300 ZFHX3 MMP1 PRKAR1A KRT9 F13A1 CTNNB1 MPL INPP5E NF1 DKC1 TERT DLK1 SCN10A STS RPS29 PTEN FLCN LRBA ELANE GTF2E2 ATM PIK3CA GPR35 CYLD RAD51C CDKN1A WT1 DICER1 PIK3CA TERC PIK3CA SLC25A11 GNAS CEBPA ATP6V1B2 RET XPC EXT1 BRCA2 SH2B3 ERCC3 BRCA2 RTEL1 WASHC5 ERCC2 AKT1 KCNAB2 CYLD STK4 POLH ERCC5 CDH1 CEL XIAP MSR1 TP53 TET2 DHH PRKAR1A
HP:0001626: Abnormality of the cardiovascular system
Genes 4425
MERTK SLC25A26 TRNK MTHFR ALDH18A1 SCN9A B3GLCT GNPTAB MITF GJB4 NDUFS4 MEGF8 SCYL1 TREX1 SLFN14 LMNA DOLK SDHA RANGRF SCNN1G CD247 EFTUD2 KRT16 SLC25A4 NTRK1 ATP6V1A CTNND2 ARVCF SIX3 ND1 WDR11 ANTXR1 CTSB NBEAL2 RREB1 TOPORS NOS1AP RRM2B CAV3 LETM1 GNA11 KIF3B IFT172 NPHP3 COG4 ELMO2 ANTXR1 PEX11B DNAH11 KRT2 APOB RPS6KA3 PRKAG2 GJB6 CDSN ZAP70 HRAS ZIC3 NKX2-5 BUB1B FLRT3 NXN RAF1 NKX2-6 KCTD1 TTC7A SPATA5 DNAH1 BRIP1 FGA SGO1 VPS13B TKFC CRYAB CNBP SEC24C CDK8 TULP1 MYH6 B3GALT6 TWNK PLEC SLC37A4 PIGA TSC1 ATRX FOXF1 FOXC1 WAC GNS TERC MPL THSD1 EVC2 DLST CRB2 FLNB ATP6V0A2 TPM2 AK2 ACTN4 SPAG1 RTL1 ITGA8 EFEMP2 C8ORF37 IL7 KRAS ECE1 XYLT1 VPS45 SLC25A24 POMT2 TPM2 CCR6 KCNE1 PLAGL1 AHI1 SNTA1 PALB2 FOXP1 KDSR RELN CAV1 ARL3 MYF6 IGF2 COL3A1 CBL ATP6V1E1 COL5A1 ACD PPP1R15B ACVRL1 AMMECR1 HNF4A ADA2 CDKN2B ERCC8 SBDS SOX3 FANCL NDUFB11 CPLX1 PRKAR1A LYST PRPH2 SLC18A2 RINT1 COX10 SLC2A1 VPS33A LDB3 XK TTN NKX2-5 GJA1 NGLY1 GLI2 ODAD4 MYH11 MAF FLI1 SMG9 SDHA AGPAT2 CAV1 MKS1 TAF2 LRRC6 COL11A2 HOXA13 CASK CCBE1 SMPD1 BTD KCNMB1 TDGF1 PIK3CA WDPCP LACC1 KCNJ2 ND4 RPS19 CHRNA7 IGF2 KAT6A AIRE DISP1 MYD88 DHDDS GNAI3 DOCK6 KRAS IRF8 ERMARD BAP1 APP RPE65 SLURP1 CALR FN1 SLC19A3 ALX4 TSPYL1 PEX13 SLC39A4 NDUFB11 TTN FOXC1 RBCK1 HNRNPA2B1 TRPM4 ZIC2 WDFY3 KYNU PSMB9 CD2AP APOE SMAD4 ITGB3 TRNK KCNQ1 SNX10 KCNJ2 HMBS FKBP14 FGF8 BRAF SC5D SHH ALOXE3 FAS SCARB2 HACD1 CREBBP CITED2 MMP2 HADH NEXN NODAL ABCC6 PORCN CEP57 PIK3R2 RAD21 SCYL1 VCP KCNE2 USH2A TCTN3 PTPN22 ESR1 TRNS2 CDON TIMMDC1 C1R STRA6 IL10 DLD SCNN1A DNM2 SOS1 CDKN1C TGM1 TNNC1 LPIN2 CCN2 MAP3K7 HLA-DRB1 FRG1 TSC2 PPP2R5D GLI2 SLC2A1 EYS FDFT1 IFNG ANK1 SYNE2 ARL6 IRF6 TAB2 PCSK9 TP63 CARS1 HABP2 MYSM1 ERGIC1 ALOX12B DYNC2H1 DSG1 NSUN2 FLT4 FERMT1 DNAL1 CRYAB PPARG GNB5 TRNE TSFM MEIS2 DYNC2LI1 TRNL1 NT5E EWSR1 POU6F2 CSGALNACT1 ELN PRCD FBN2 KAT6B PLCG2 THBD PEX5 SLC2A10 SPOP GBA CYP17A1 SHANK3 SGCG TRNK PNP ACTA1 AGTR1 FERMT1 SIM1 GNA11 DGCR2 NCF4 ODAD2 FMR1 CYTB HCCS GBA SNIP1 DNAI1 LMNA PSMD12 NBEAL2 MKKS LMNA WAS DMD NDUFA10 ITGA3 HESX1 PIGL SDHAF1 POMK MKS1 CYP11B2 ATAD3A IL2RB CACNA1S GLI2 RNU4ATAC NEU1 TASP1 PMS1 RNASEH2A FAH BRCA2 ODAD3 FKTN FHL1 IL17RA C2CD3 CALM2 MCTP2 PDE11A IGLL1 ODAD3 ATN1 TPM3 MYOT SMOC1 PUF60 SOX10 RYR1 NDUFAF6 TRIP4 IQSEC2 GATB ADAM17 SDHB GLMN LRRC32 TMEM216 NLRP3 CISD2 BAP1 MED12 CYBB COL1A1 STAC3 BSCL2 PTPRC VWF CHST3 FOXH1 NDUFA2 TNNI3 YWHAE SNX10 COX3 COG8 LRRK2 FBP1 TMTC3 GNPTAB CTSK TREX1 XPR1 HADHB ZFPM2 SCNN1A PCARE STRA6 NDUFAF2 IL17RD RBM20 FANCB GLI2 CLCNKB CCDC141 RPGRIP1L PHKG2 F7 RPL10 COL4A1 WDR26 HMBS EGFR ABCC8 PLAGL1 BCR NDUFAF2 CCDC22 SAMD9 DMPK ERCC5 SCN5A USP18 HYMAI C1QBP PRRX1 SLC29A3 ARMC5 PLAG1 COLGALT1 KAT6B MEFV DNAAF2 ITGA2B KDM3B GJB2 NFKB1 IL1RN EED IRAK1 FHL1 TGFBR1 REN ABCB4 COL4A2 MDH2 CALM1 UBE2A SP110 PIK3CD SRD5A3 ENG MAX ATP6 NSDHL HSPA9 PROK2 SETD2 CTLA4 SMARCD1 SOX2 ND5 PQBP1 TELO2 F10 DZIP1L JAG1 GATA6 JAM2 MYH7 KRT14 ALB PEX5 TTC8 ADA2 BPGM RIPK4 FRG1 CIB1 KCNH2 CHCHD2 TSR2 POLR1A WNT5A TET2 RGR SOX9 TGFB3 TMEM67 BMP2 CEP41 GYPC ZNF462 GPC4 FBN1 DDRGK1 COX6B1 RBM10 CFAP410 FGFR2 GDF6 TF MAP3K1 ATP2C1 BMPR1A BBS12 DPM1 MDM2 PARN RHOH NFKB2 RFWD3 VHL H19 TBX1 LIAS MOG TLL1 PPARG DCLRE1C NAXD ABL1 CFHR1 SELENOI GNAS NRL KCNE3 NHP2 CYP11B2 TGFBR3 KRAS NTNG1 OSTM1 SLC17A5 SDHB ABCG8 COL5A2 NODAL F13B SDHC TNFRSF11B IVD F9 IRX5 GDF2 PSMB4 PCNA PIGU SAMHD1 NXN DSP ANTXR1 UBR1 FGFR2 PEX6 NKX2-5 COL3A1 TRNL1 ARHGAP31 MS4A1 NODAL USB1 BBIP1 F13B CASP8 CAVIN1 CYP11B2 ASXL1 IFNG FGFR1 ARX PLAU PROC RLIM DTNBP1 ZNF408 SFTPA1 TRNS2 ITPA JAK3 BMP2 BAP1 NBAS FZD2 ATP6V1E1 BTK ATM CACNA1S HADHA MCIDAS NOS3 NODAL PTEN ZMYND10 NFIA ACTA1 PSAT1 SYNE1 BCOR ABCC9 CYLD CD81 COL3A1 GJA8 FGF8 RPGR SCN3B COX3 RPGRIP1 CPLANE1 CYBC1 FANCD2 FGFR2 RAG1 CRLF1 SMARCA2 NPHP1 MYT1L ACE CLEC7A GLI3 CYP27A1 FRAS1 NFU1 PMM2 PAFAH1B1 ZMPSTE24 CEP41 DLL1 FERMT3 CCNQ PTEN EYA4 NPHP1 KCNN4 PRDM5 HFE MPL SIK3 SLC40A1 TERC RPL27 SEC23B TRPV3 PPOX TCF3 SUMF1 SDHAF1 COL1A1 STAT5B SUFU CREBBP SOX9 STK36 BBS4 SLC7A7 GJA1 ADD1 DOCK6 CD46 DIS3L2 MFAP5 KNSTRN ARX TNNT2 SF3B1 KMT2E INPP5E BANF1 GYG1 ARHGAP31 ZFPM2 RMND1 ZIC2 G6PC3 NDUFB10 DNAJC21 PEX26 XYLT1 ERF PEX19 ENPP1 MED25 NCAPG2 FOXH1 HJV SEMA3E AIP IKBKG IQCB1 MRPL3 SP110 NAGA MED13 LIG4 NDP HPSE2 TRPM4 FZD4 FLNB FCGR2B LHX4 INPP5E KATNIP TRIP11 TTC8 PSAP TREX1 ND2 ND5 IDH2 BRCA1 RPS6KA3 FHL1 USP8 SLC25A11 MASP1 LMNA LMNA WDR37 TRPM4 PEX3 TRNF OTC FADD OTC TMEM126A MTAP PPARG TRNQ KIAA0586 ZMPSTE24 RAI1 ELN KPTN LBR KDM6B SON AGXT TRNS1 PDCD10 CYP7B1 TRDN DMXL2 SPATA7 NPHP3 TRAPPC11 ELN PTCH2 MAP1B TGFB2 ARHGEF18 JAK2 SUMF1 GUSB ADCY5 IFNGR1 DHCR7 GUSB KITLG HADHB BVES C12ORF57 SDHB GBA MPIG6B FOXP3 RAC2 STIM1 KRT83 RPL35A AKT1 MYH6 ZFPM2 GJB6 CHST3 KANSL1 PURA SATB2 PITX2 COL4A1 FN1 GLRX5 ADAMTS10 CDK4 AFF4 ZFP57 ERCC1 SCARF2 PCNT PRPF8 NPHP4 LRRC8A RPL26 RMRP ACTG1 TTN OTUD6B KDM6A ECHS1 KCNQ1 ATP5F1E CTCF TGDS CNGB3 TMEM107 GAS8 POLG DNAAF2 SCNN1A ACTA1 MTM1 FLNA POMP HABP2 MTTP TRNL1 FGFR1 TGFBR2 FKRP OTX2 PTPN22 CFI LRP2 PHF21A ZIC2 EOGT RNF6 PLIN1 INSR WRN KRT5 PIGN NDUFA10 FKBP14 WWOX PPA2 LDLR GATA4 GATA6 TBX1 ENG POLH NSMF ARID1A KCNK3 NSD1 F5 KCNN3 REEP6 NKX2-5 CREBBP KIT ZFPM2 CDH23 PDE6D ATP6V1A TMEM231 MTFMT PROS1 XYLT2 EPCAM KCNQ1 P2RY12 IL10 PDGFRB SLC4A1 LRP6 NDUFS8 GCK SDHD DCAF8 STRADA PNPLA2 NDUFB11 DDRGK1 FUCA1 RNASEH1 RNASEH2C ND4 NF1 AKAP9 NOTCH3 FLNC DNAAF5 PEX5 PDHA1 SMARCE1 ERCC4 MYH9 CCDC22 COL1A2 STAT3 CCND1 TMPO ND6 IMPG2 CALM1 CCDC8 TGIF1 NEUROD2 DNAH5 ABCA4 TRAF3IP2 ARFGEF2 TBX1 KISS1R SSR4 ALG8 DDX3X TRNS1 KDSR HAAO RIN2 TUB MKKS RSPO2 DNMT3A ETV6 GNB3 HK1 AFF4 GBA RAB3GAP2 PPCS FGB IL23R DVL1 F8 FBXW11 APOA2 CYBA RAI1 MYH11 CITED2 PEX12 TFAP2B HADH SCN9A FGF8 CASR POLE LOXL1 ICOS FADD AMMECR1 SCN5A LMNA TNNI3 CDON PDE6G SDHD MANBA PIGT TDGF1 DYSF CCDC40 ALMS1 FGA ANO5 PARS2 RPGRIP1L TERT GJB3 CDIN1 KCNE1 FOXH1 SOS1 NRAS CACNA1D WAS CASR DHODH F2 PNPLA2 EHMT1 NF2 TCIRG1 DYRK1A NDUFS1 FAS MYH7 TOP3A SAMHD1 WDR35 NSMCE3 PTEN TGIF1 G6PC1 CCDC28B KRAS GTF2I TNFRSF1A FBN2 TWNK HGSNAT GNAQ PRDM6 APOA1 DSC2 SRD5A3 IFIH1 FTO KCNJ11 GNAS AMER1 SETD5 LIPC COX2 MINPP1 NFIX RNU4ATAC OFD1 RASA1 AIP COL6A3 WDR35 FAS ACVR2B RNF135 CDH2 SFTPA2 MKS1 UPF3B ANTXR2 PRF1 KRT1 AARS2 TSHR TRNT1 SCN5A GATA1 NRAS GREB1L ERAP1 RAB27A SCN10A MC4R PACS1 PRKACA GLI3 LYST GBA GATA4 TKT TBX4 MYMK COL4A4 SCN2B CEP290 KLRC4 SCAPER MMP1 KRT9 F13A1 VIPAS39 PRPF31 PIGN HLA-DRB1 AIPL1 MPL ADAMTS2 TMEM237 CD55 MVK NKX2-1 DLK1 TPI1 APOE GNAO1 WT1 ELANE GTF2E2 PKP2 ABCC9 GPR35 CIITA TRAPPC4 MED12 CDKN1A CLCC1 CRPPA GJB3 MEIS2 RAF1 MIPEP PEX1 COX3 COX7B NEBL SH2B3 ERCC3 ERCC2 KCNAB2 TAB2 CTNS SETX ANGPTL6 CD19 TRIO STK4 POLH ERCC5 GALNS POMT2 NFKBIL1 ADAM17 TET2 NAA10 SF3B1 SLC26A3 GFI1B KMT2D ABCA12 LRP5 UBR1 PEX3 FEZF1 COL7A1 HSPG2 TRPM4 TRNK NDUFAF4 C12ORF57 MYBPC3 GTF2IRD1 CAVIN1 KRAS PIGY VWF TGFBR2 SPINK5 RASA2 APC PHGDH SLC25A24 NGLY1 LARP7 STAG1 RYR2 CCND2 FANCM UCP2 RPL10 CDKN2A DSG2 ANO10 NELFA NLRP3 KCNJ11 PIK3C2A GLI1 CTCF KCNQ1 LRP5 TCF4 CFHR3 POLG TBX5 SHPK HLA-DPA1 TMEM43 SETBP1 LMNA RIT1 SVBP CEP164 AKAP9 ATP6 FKRP CYP27A1 CACNB2 WAS SDHA NF1 LAMB2 BAG3 RARA ACTL6B TREX1 ABCC6 COL11A1 HSPG2 KCND3 CNGA3 IL36RN SLC19A2 CYP1B1 COL3A1 CD96 CYBA ERCC8 TET2 GLIS3 DLD TERT PEX2 FOXH1 SURF1 ATOH7 GFI1B HRAS CASP10 TSC1 TNPO3 NIPBL PITX2 WDR19 GAS1 MYCN TXNRD2 IL10RA ATP7A MYH9 ACTA2 TRNW GDNF CTLA4 PDE4D SPTB ADAMTS3 GLB1 SGCD ERCC3 F7 HLA-B COL5A1 CBS SNCA FGFR2 LIG4 RNU4ATAC CLN3 GNE AKR1D1 ADA2 KCNJ1 FGFR1 CFI ERCC2 DISP1 FKTN ATP6AP2 NLRP3 FGFR2 COQ2 SPECC1L ARL6IP6 FAH ND5 NR0B1 LIG4 MAP3K20 POMT1 FOXE3 PDGFB GYS1 SDHAF2 SLC26A2 FAS PRKAR1A SERPINC1 RLBP1 TCIRG1 CALR PIK3R1 LIFR KCNQ1 SDHD ZNF687 SLC35A2 FGF8 CCDC40 CTLA4 SCN5A HBA2 ARSA DCAF17 CFTR SCNN1G ESCO2 GJB4 ITGA2B KIF1B BEST1 RP2 GATA6 BBS9 ARNT2 KCNJ18 HTRA2 SPRY2 STAT1 GTPBP3 FGF8 SCNN1A SNRPN MYOC GPR101 ATP5MK HNF1A MAX LRIG2 LONP1 PLEC CXCR4 ERCC8 COQ9 PTDSS1 SLMAP STIM1 CCND1 KCNQ1OT1 AHCY ATPAF2 FANCC POLR3A SKIV2L PADI4 CYTB MAF TERT SFTPC FOXJ1 NPC1 AICDA FANCI CALM3 NDUFS2 EDA LDLRAP1 TFAP2B CALM3 PEX6 CFAP298 CSTA SELENON TRIM28 ZIC2 KLHL7 NPC2 TBX22 ALMS1 GPD1L FGF8 ELN SBDS CERKL CYP11A1 KDM6A LAMP2 B9D1 MAFB DTNA NDUFS2 PEX14 LEMD3 GJA1 FGF20 SGCB MMEL1 DNASE1L3 TGFB3 CCDC141 FANCA LIPN FLT4 MYH7 RDH5 SCNN1B FBXW11 MAN2B1 SCN5A LTBP3 PTCH1 MGME1 EPG5 NKX2-5 GAS2L2 PPP1CB F13A1 PDE6H HIC1 CBL CWC27 PDE3A FLNA CHRM3 POLG2 JPH2 IRF5 IL17RC GNAQ SMARCA4 APP PIGM HPS5 TMC8 COL4A5 LYZ NFIX RTEL1 PRKG1 PLN ATAD3A MPI BRAF IFT172 FMR1 ALG14 PAH WRN TGFB1 RBM8A NDUFB9 SFTPA2 CDH23 FGFR3 RET NR2F2 JMJD1C TNNC1 SLC30A10 GLI2 BUB1 GMPPB NRXN1 COQ7 OCLN VCL TMEM237 TFAP2B TBX1 WDR19 RRM2B COX4I2 KAT6B FLNA DNAI1 HCCS NOTCH1 IFT140 FOXA2 MPLKIP PROS1 LZTR1 SOS2 NDUFS2 CACNA1H TPI1 FECH CYP11B1 GNA14 MADD GCDH PEPD MYT1L MYO18B GTPBP3 SDHA IDH1 CDKN2A SCN4B SOX10 FBLN5 YY1AP1 CDKL5 RPS10 TANGO2 NPPA GAA AKAP9 NDUFS2 PIGO MAP3K7 LMNA MEOX1 KRAS TMEM216 RBBP8 KLF1 SCN1B BPTF SMARCB1 SOX10 BRCA2 SPTB ANK2 RNF113A BRAF MBTPS2 RAF1 COL6A1 FASLG TNNT2 CCDC39 DNAJC19 PYCR1 SMN1 EYS TNXB CFH DEAF1 LMNA PSMD12 TK2 INTU ATP6AP1 PEX6 POGZ STAT3 PLG CHRNA1 ACTN2 NEK9 ESCO2 LONP1 TGFBR1 ACAD9 CDH2 POLG TMEM127 LPIN2 KYNU PRDM16 SETBP1 SNRNP200 CFH UVSSA UBE3A MYH7 PRRX1 CPLANE1 TBX20 SFTPC SLX4 CARD9 ARL2BP RECQL4 LEMD3 TNNI3 RPL10 FGFR2 FHL2 GABRD IRF2BP2 EHMT1 NEK10 ABCG5 MYH7 RPL5 CRYAB MKS1 DOCK3 NODAL ABCC9 TFAP2A RPS24 VPS33B RPL35A FGFR2 SGCA RET COQ2 ARL13B IDH3B MGME1 ASAH1 NOTCH2 UBE2T CENPE CHRNG ATRX SNTA1 PRPF3 ERCC6 HBB MED13L KCNQ1 MRE11 JAG1 RECQL4 RPL27 DNAJC19 TDGF1 TALDO1 RNF213 RAI1 HFE NDUFS2 NR2E3 PCARE MAK PHKA2 LAT STXBP1 ZEB2 KDM5B PIGO MAP2K1 PIBF1 PAX6 ERCC4 SOX18 ERBB3 SIX3 ROR2 ND4 BMPR2 CENPF PEX16 PDX1 DUX4 PEX19 FLNA DIS3L2 DLL1 CDON SHH TPM3 CPT2 H19-ICR TBCK MTRR BMPR1A MYL2 HBA2 JAK2 FOXC1 TBL1XR1 GDAP1 RAD51C CACNA1C RRAS2 PRPF6 LIG4 AGK DNAAF6 PIGS RNF125 BIN1 NR3C2 FANCA PRKAR1A GDNF MYPN NOTCH3 IGF2 RUNX1 PRKCD BLNK KRT1 PRPF3 FCGR2C KAT6A FBLN5 ABCC9 GCLC WDPCP IRF5 WT1 LIPA RAB27A KIT TMEM43 ADA AUTS2 CYTB SALL1 SERPING1 CYP24A1 TGIF1 ASCC1 DNAH1 CSRP3 GNE CST3 IGH FAT4 JAK2 PSEN1 G6PD ACADS MYH11 TMEM43 INSR ERCC6 PQBP1 ARID1B ARL3 PDE6A SH2B3 PPOX TP63 SHH PLOD1 AKT1 TTR COPA PEPD SRY SCNN1B FBN1 SNRPB RBP3 GAA CALM2 GATA6 DYNC2I1 CASR ZNF423 RAD51C GALE SDHB HPS3 REST TGFBR2 SCNN1B TAZ PKD1 TPM1 PRKACG HIRA ACTG1 DRC1 SVBP GPC6 GDF1 HOXA1 BAP1 COX1 CSPP1 ELN MGMT ARSB PEX6 RPL11 PET100 RIPK1 CASQ2 ACTB MSX2 ND2 FOXP3 USP9X ND4 SOX4 SLC39A13 PKHD1 CHKB COLQ TTR SPEG RPL11 GLRX5 PAM16 NOTCH2NLC TET2 SCN5A AKT3 PTPN11 MEOX1 RP9 F2 ENPP1 RHO POLR1D TDGF1 TNFRSF13C GLA SELENON HSD17B10 RPL15 TULP1 NF1 ADGRE2 FGB MED13L GATA5 AGL DDC TRMU BACH2 DLX5 ZNF513 IL12RB1 SH2D1A KRAS SLC25A4 SCN5A NDUFA11 GSN CAP2 ALDH18A1 SMAD6 VPS13A EXT2 ITGA2B SLC4A1 FRAS1 NDUFA12 MFAP5 CYSLTR2 CEP55 AGXT FGF17 CLDN1 PDE8B MAGT1 FGFR1 IFNGR1 DES SMAD4 ZNF469 ND1 DOCK8 KMT2D SOS2 SLC19A2 ND5 LAMA4 CTNNA3 FOXRED1 LIPA MICOS13 CSPP1 ACAT1 RORC STING1 DCHS1 GATA3 MEGF8 HLA-DRB1 ZEB2 ARID2 CHN1 PIK3R2 RPL18 STN1 HTRA1 AP1B1 PCCA EXT1 CCND1 CYLD PDGFRA RAC1 KIF15 TBX20 FIG4 SLC20A2 BIN1 LIPA ODAD2 FLNA TRAF3IP1 SMO SLC4A1 PDHA1 DNAH9 TMEM231 GLA SCNN1G NOS3 MBTPS2 EVC NSD2 HS6ST1 DPF2 ITGA2 MAN2B1 PIK3CA LRP5 PKD1 KIF1B APP TNNT2 TNFSF15 PTCH1 LRP5 RBP4 MMP2 LMNA NLRP3 CHD4 LRRC56 FGG ABCC9 CYP11A1 RNASEH2A CIZ1 TNFSF4 ODC1 POLR3A AGPAT2 TWIST1 MMP1 NDUFA4 ND1 IDUA COG4 TP63 PAFAH1B1 PTCH1 PEX7 LCAT COX8A GP9 ABCD3 PRPH2 TP63 DISP1 TCTN2 TNXB SCN1B PPP1CB VANGL1 NR5A1 NKX2-5 TSC2 ACTA2 DGUOK GFI1 MAPK1 IFNG COL1A2 NDUFS3 PHYH MESP2 RPS28 FASTKD2 FOXE3 NLRP3 MRPS16 RAI1 NABP1 SCN9A PCGF2 FLCN DNAJC13 SFTPB ACTC1 PLVAP HBB RPS20 RPSA RAD21 INVS LYST NDUFA11 RARB CD19 BMPR2 DZIP1 APOA1 GATA1 PEX7 NEK2 ATM LMX1B GBA APOE TGFBR2 MYH11 CANT1 RECQL4 HYOU1 IGSF3 TOR1A ATP8B1 CFTR EVC FANCE PARN PRKAR1A TGFB1 MYLK WWOX MTOR RFC2 WDPCP GATA4 RRM2B CCDC103 SETD1A NEB MPLKIP POLA1 FLT1 CD19 CALM1 SIX3 SMPD1 B9D2 SERPINC1 SELENON SPARC HPS4 PTH1R SRCAP ATM MNS1 KRIT1 MYH6 SH3PXD2B GNAT2 CLCN7 TRIP13 HAND2 COL18A1 MST1 ANKS6 RPS6KA3 MEF2A ALDOA FGB FKRP NOP10 AVPR2 COG6 TRNQ BCL11B PRDM16 IVNS1ABP STOX1 ASAH1 ACTL6A NDUFS7 SMAD3 TALDO1 NUBPL CITED2 ERCC2 TAF1A COL4A1 COX15 TEK STEAP3 HADHA ALX4 ACTA1 DSP NDUFB3 EIF4G1 GATAD1 ACTA1 HBB RERE FLNA MAD2L2 CLRN1 LTBP4 PNPLA6 TMEM237 AIP DDX58 POR PGM3 DCC ABCB11 KCNJ8 EOGT VHL PIK3CA MTFMT TEK PLD1 SLC25A4 SDHC DCLRE1C SEC31A TLR4 RSPH3 APOA5 COX7B CYBC1 DCHS1 KCNH1 FANCB BBS2 HBB SRCAP GAS1 TNFRSF13B LMNA CRB1 ZMPSTE24 ANOS1 SMARCE1 KCNQ1 BCOR WARS2 KLHL3 STAT4 SMAD3 GTF2H5 TRNV RUNX1 LRP2 OPA1 PRKAG2 DNAAF4 UBAC2 MAP2K1 RIN2 THOC6 DLEC1 BIRC3 COL4A3 FGA TTC8 SCN1B GATA4 TMEM138 CD27 BMPR1A ALKBH8 CFHR3 MTHFR NSMCE2 VCL MITF QRSL1 DHCR24 CAV1 BNC2 SNAP29 ITK BICC1 RECQL4 THOC6 NAGLU TRMT1 AKT1 JAG1 RERE GDF6 DMD F2 FIP1L1 GJA5 C2CD3 ND5 ATP2C1 APC NFIX NDNF B9D1 ICOS GFM2 SARDH ND6 HLA-B PRKAR1A KCNJ18 MAGEL2 GMPPB NF1 MAP3K7 DLL1 RPS29 NODAL LRBA RDH12 PLP1 RSPH4A TERT FBN1 F5 NAGA RHO ATP6V1B2 RET HSD11B2 WASHC5 TCTN2 DMD GANAB TMEM67 C8ORF37 SLC39A13 CD46 ADAMTSL4 VPS33A DPF2 PIGQ INS SDHA MVK SMARCB1 RPS7 WT1 TRAIP NDUFB11 DNAAF1 TOP3A PRCD CUL7 TCOF1 ALG9 TRNC CALCRL F5 KAT6B POMGNT1 TTN OFD1 EPB41 TERT BRAF CLCN2 APP SLC2A10 RPS15A APP KRT14 GJC2 PTF1A MALT1 HPGD NID1 SOX3 KCNH2 ABCG5 FSHR MAFB DSE GATA6 CFC1 EFTUD2 HBB MYL3 RPL15 PPCS STK11 ALB CDC45 SNAI2 PCNT FOXH1 ESPN TPK1 IDH3A ANKRD11 COL1A2 TARS1 PKLR CEP290 WNK4 CCR6 SH2B3 ALAS2 DNAH9 HSD3B7 PLIN1 BRAF ADNP DSG2 UROS RLBP1 EXT2 TBX1 SMCHD1 PIK3CA TCAP RS1 ATP5F1A GATA6 FANCG SCN5A GP1BA NDUFV2 GMPPA NOTCH1 MAB21L1 ADAMTSL1 AKT2 MCCC2 ND6 DNMT3A SIN3A THPO NOD2 MYH6 WASHC5 CPOX FOXC2 HAMP GJA1 ANKRD26 ACTA2 CYB561 SCN1B PIGT VPS13B PRKCD HYLS1 SUFU PTCH1 DNAJB11 HOXD13 IGF2 TRRAP CFAP300 COL1A2 GDF1 MTO1 IFT27 INTS1 PHKG2 PEX19 MAP2K2 WT1 DLK1 PPP1R17 SMC3 CR2 STX11 F12 MED25 MADD COL6A2 RAB23 SHH ACADVL FAN1 TET2 TKT MYRF HRAS DLL4 F8 MVK CRELD1 GALNT3 SCN5A TPM1 KIAA0753 SCO2 SOX2 ATP8 SLC26A2 PUF60 RYR1 ELP1 AGA BEST1 NLRP3 FANCF VWF FBN1 MMP21 TCIRG1 PNKP F2 CPT1A FLI1 ZIC2 SLC29A3 KIF20A DLL4 IMPDH1 MBTPS2 POLG KRAS SIX3 PEX12 PRKCSH TCTN3 SOX10 SMARCB1 TRNN SCO1 BTK MSH6 KRAS BSCL2 RSPH1 SMAD9 CCBE1 GK DNAH11 AGTR1 ATR CSF2RA NADSYN1 UMPS CDC42 GJA1 LAMA2 SMAD4 SACS TCOF1 NTRK1 DES POMT2 SLC22A5 MCFD2 MYBPC3 XPNPEP3 NOTCH2 SKI SEC23A TTN LORICRIN MRPS14 SYT1 ODAD4 ECHS1 IDUA CACNB2 DLL1 ND1 RNF113A TBX6 RERE FLNA CASK DGCR6 TTC7A SFTPC RAG1 UROS INTU CKAP2L EDNRB NLRP1 IFT81 ABCD4 EPHX2 COG4 EED SIK1 ETHE1 RPS19 IL12A-AS1 ENG CDKN1B HLA-DRB1 HYLS1 NPM1 NDUFS4 MC1R SCN11A TACO1 RB1 CTLA4 PRG4 CEP19 KLF1 C1S CRELD1 PHYH DSE PEX1 ERBB3 RPGR TCF20 LIMS2 GUCY1A1 GALC TUBB RET JUP NLRP3 ALDH3A2 DHX38 IFT80 FGFR3 FXN FGA MKS1 SEMA3A HBA2 NPHP3 WFS1 VHL PMM2 COL4A3 BRAF ABCB6 IDUA MNX1 PRPH2 RPGRIP1L EYA4 FBN1 HBG2 SLC29A3 CNTNAP2 RAG2 CAPN5 CTSA PGM3 CHRNA7 FANCE MPL COL7A1 NDUFS6 HIBCH FKTN ZEB2 XPA NEK1 GJA1 TRDN FLNC ENG AKAP10 KIAA0586 CCNQ PLN NDP AGA LAMC2 RAG2 IL17F VAMP7 CEP104 FANCC SNCA PYGL CCN2 TPM3 TWNK GGCX COQ2 FOXE3 NCF1 CD3D ABCA4 TAF2 RIT1 MGAT2 SAA1 KIZ IL7R TBC1D24 TTC37 LTBP4 SPTA1 MLX COL1A2 IDH1 SMAD3 TGM5 FOXRED1 PEX16 NOS3 GHR DDX11 HYMAI GDF2 PRKAG2 HLA-DRB1 MRPL44 NDUFA1 DNMT3A NEU1 ATIC EDN3 FLNC CPS1 PRKAR1A APRT GPIHBP1 DNMT3B IDH2 SCN3B PTPN11 EDN1 MECP2 AGK NDUFV2 USF3 ACVRL1 TFR2 FLNA MTTP NRAS OTX2 CC2D2A DNAAF6 FGF23 CLCN7 ANK2 NOTCH1 FBN1 NUP188 NDUFAF3 STAT3 PEX2 PEX10 CARD11 TBX5 BAG3 ERCC6 STX16 SMAD4 SLC25A13 PGM1 LRP1 JAK2 HMGA2 AHI1 RPL31 ELOVL4 AQP2 PIK3CA TP53 CNGA1 BRCA2 PALB2 GAS1 PSAP PTCH1 CFI PTEN STAT3 TMEM67 SCN10A KBTBD13 TREX1 AHI1 ACTC1 JAK2 ISG15 MYH7 ACTG2 BEST1 TMEM126B MAP2K2 ACADM DLL3 RYR1 FUT8 PEX12 ASXL2 KIF11 GP1BB MSL3 HADHA TERF2IP SH3BP2 HNRNPK NFKB2 FREM2 IFT172 HIBCH PIGY ANK1 TGIF1 CAV3 IDS AVPR2 NEK9 SELENON PSTPIP1 CCM2 LEMD3 ATAD3A GATA4 NR3C1 NEUROG3 SCN2B TBX1 POU2AF1 TDGF1 PRKACA ADNP CA4 CD28 CDC73 SIX3 PML BLOC1S3 KCNJ5 CHD7 POLR1C POR TNFRSF11A FH ATRX HES7 FOXC2 NKX2-6 FOS GLB1 CC2D2A DSP MYH3 KRAS HSD3B7 ALDH18A1 ALOX5AP PEX11B SDHD DVL3 SLC12A1 SCNN1A PSEN1 WFS1 GPC3 DCTN1 ALG9 DNAAF5 JUP ZMYND10 CACNA1D IL2RG IL7R PTH1R SMPD1 HLA-A ROR2 GP1BA SMAD4 KDM6A NONO INVS TLL1 RIPPLY2 CLCN7 MYLK NODAL ND6 SERPINA6 GNE BAG3 MEN1 LRRC56 GATA1 TSC2 VPS35 DHCR7 WARS2 NDE1 SLC20A2 WNT10A SLC7A14 GSN RP1 KCNJ5 BMPR1A LBR ARID2 BBS1 SDHD ZNF513 RET CNGB1 KCNJ5 SETD5 NKX2-5 CAV1 ABCG8 DCAF17 DSG2 TF GPD1L AGT GATA1 CTBP1 BTNL2 RYR1 SNX14 CHST3 RAD21 SOX4 SAG ERCC6 TP53 IGF2 BBS10 FUZ SUFU CRTAP PSAP PEX13 GAS1 B3GLCT ABCC6 PLEKHM1 ADAMTS10 ELN RET GATA5 ALDH18A1 CALM2 GATA5 EPB42 GP1BB TCIRG1 DIS3L2 CAV3 TPM2 EMD SCO2 TXNRD2 IKBKG FUCA1 SPAG1 ARID1B GNAS AGGF1 F8 ABCA3 ND4L NLRP12 TGFBR1 NDUFAF5 NOTCH1 PMS2 SEMA5A CAV1 NDUFS8 CD28 CDON GPX4 CA2 CC2D2A PDGFRB GREM1 KIF7 STXBP2 TGM5 ADCY5 EPHB4 ESCO2 FHL1 NEDD4L BCS1L IFT88 CITED2 NDUFB11 BCL2 INPPL1 KRAS CYTB KIT MYBPC3 RPGR CALM1 GRIP1 ATP5F1D FANCD2 PTPN22 FAT4 IFIH1 IL7R LMNA JUP GPC4 FECH H19-ICR SMARCAL1 NAGA GBA CEP290 PDCD10 DISP1 HYDIN SPRY4 MAP2K2 IL2RA FGD1 CDK13 CTC1 PDSS1 PNP PRTN3 ARID1A EPB42 XYLT2 MYH6 FRA16E GP1BB RSPRY1 TRNS1 SDHD BLM CASQ2 CALM3 RRAS SALL4 FANCI LMNA DDR2 ZAP70 ALDOB MNX1 LMNA AIP ND4L C3 IFIH1 TMEM260 NRXN1 USP8 FGFRL1 DPH1 APOE C8ORF37 AP3D1 SALL4 BRCC3 ABCA1 CDK10 KDR TECRL AAAS TBXAS1 C4A MYH7 SH2B1 ERCC6 SBDS DNAI2 NKAP TBC1D24 PEX1 LIPC CHRM3 MTHFR MYL2 TRNE COA6 SERPING1 GATA6 BCL10 PRF1 RAG2 SCN4B GBA GATA4 SMARCA4 GM2A CD40LG KCNQ1 MSH2 TRMT10C MMACHC MIF HES7 GP1BB HLA-DQB1 TRIM32 NKX2-5 GMPPB SLC35A1 AMER1 EIF2AK4 SPP1 XYLT2 KIF7 LBR NCF2 MKKS PTPN22 TMC6 CEP57 FGFR2 DNAI2 SDHA SDHB TRNF TPP2 SDCCAG8 SOX5 PCNA ZNF469 RAG1 CDKN1C CDC73 IFT43 CEP120 HAVCR2 HMGCL KCNJ2 HBB MIB1 SLC4A1 ACP5 XIAP CFAP53 IL2RG ATP7A RNASEH1 FANCB CYP11B1 KAT8 BTK SDHB TTN TMEM231 OFD1 TET3 KLHL7 CDON PTPN11 TXNL4A PHGDH LRP5 FLNA PIEZO1 PIK3CA NNT ABHD5 DVL3 KCNE3 AEBP1 RYR1 CDHR1 HCN4 STRADA PSMD12 CUL3 SLC25A3 ANAPC1 LONP1 ERCC4 FBLN5 ATP6 FBN1 CLRN1 PEX16 FLT4 NIPBL SMAD4 LIPT1 SLCO2A1 NOTCH3 CD109 RPE65 CHD7 SLC37A4 COQ2 TNNT2 SRP54 CD79B SOX18 SGCD TSHR AQP5 TNNT2 CDKN2C MMP14 MED12 TGDS CCDC47 PKD1L1 ND2 ADAT3 CPOX RPS17 APC2 MYH8 TRAF7 KIF7 MYH7 SCNN1A GPD1 DHX37 VEGFC KRT5 TNFRSF1A KIAA0319L CLCN7 YARS2 TBX1 PDE11A SMC1A PIEZO2 TMEM237 NDUFS7 PDGFB TBX1 KCNA5 AKT1 TNFSF12 EFEMP2 PGAP3 ABL1 PIK3CA EHMT1 PDGFRA CTNS SDHD NCF2 NDUFAF5 TNFRSF1B WNT10A FOXP1 PSTPIP1 BCOR TMCO1 GYG1 KDM1A SDHB NDUFS1 NSD2 TECRL F13A1 B3GALT6 CLCNKB TRPS1 BBS1 CSF2RB MPL PERP FAM149B1 COL1A1 HESX1 FCGR2A EDNRA IDS TRIM28 WDPCP CACNA2D1 CD79A PIK3R1 FGFR1 PIGP HNRNPU HPS6 SCNN1G MAP2K1 PDE6A CTSA CPT2 LMAN1 GPR101 SYNE1 TFAP2A COX2 RTL1 CCDC174 COQ2 NR2F2 OFD1 ND6 KCNH2 TSC2 KCNN3 RASGRP1 SP7 GBE1 NDP GATA1 COL3A1 POGZ ENPP1 POMGNT1 SEC23B TCTN3 GLI3 SREBF1 ITGA2B SMARCE1 POU3F4 GIGYF2 SIX6 F11 SEMA3A CDAN1 KIF5A MVK ARMC5 SDHA NDP PTPN14 HAMP CNGA1 PEX26 RYR2 HEXA TP53 HPS1 TET2 COL2A1 FBN1 SCN2A DMD GATA4 FMR1 NKX2-5 ELOVL4 DMRT3 FBLN5 GUCA1B NEK8 TMEM127 CLPB LDB3 RNASEH2C TWNK TBX20 CCR1 HADHA POR WNT4 ELAC2 MEG3 GP1BA TRDN SKI NEXN RAD51 DUSP6 OTUD6B USH2A NDUFA9 MMUT HYLS1 NPHP1 HBA1 CHRND PKP2 PDE6C XRCC2 FSCN2 VHL CCDC103 ERCC6 ZDHHC9 FARSB ODAD1 CYP11B1 ANK1 JAK2 NME8 AHR VHL SLC25A22 LETM1 SLC25A3 ELANE RFWD3 XPA GPC4 ITGA8 GNAQ CDKN1B GNAS ERCC8 C4A DYRK1B TRPC6 DNASE1 CA2 PROKR2 MLXIPL LZTR1 STX3 ALG12 AK2 IDH2 SLC52A2 PDE3A HELLPAR HSD3B2 GP9 SGSH BAZ1B ALG1 WT1 TANGO2 MID1 GP1BA XPC LDB3 NR2F2 DNAL1 TGFB3 SGCB CTSH CTSB DISP1 PRKAR1A TRNL1 UBE3B LCAT MAT2A FIBP CYP11B2 TNFSF11 DSP PET100 LMNA ABCA4 KCNA1 NFE2L2 EPHB2 SGCG PROC IARS2 KCND3 D2HGDH MGP TRDN NHLRC2 SOX9 PGAP2 NAGA PUF60 FKRP CTNNB1 SDHD KCNE2 RSPH9 NOTCH2 PACS1 GNAI2 NAA10 GNB5 GGCX KRT10 CD70 ND1 PIK3CD FMO3 ASS1 EXT1 USP9X PSAP GUCY1A1 LMNA WT1 PIEZO2 GJA5 STN1 DCX KCNE5 GPC1 PROKR2 EBP GNPTAB NLRP3 CFAP221 COA5 JUP GJB2 TP63 TBX3 AP1S1 HBA1 ROBO4 CERKL RPL26 DES EDA2R OFD1 CD81 TNFRSF13B POLG2 FIG4 DDX59 MYH7 NSD1 MTHFR HLA-DPB1 AGT RYR1 CFHR1 BRF1 SLC22A4 SLC25A20 MAPRE2 AKT1 RRAS2 EPHB4 MEN1 XRCC4 COX7B HSPG2 CEP290 CCDC115 LTBP2 DLK1 PROP1 SHOC2 FLT4 ACTB DGCR8 FBP1 NEB SLC35A1 EPAS1 COL1A1 MRAP SPECC1L PSEN2 CDH23 BLM PKD2 CDON PKD2 NPHP1 CST3 RAG1 SNRPB PRKG1 USB1 MYOCD GATA4 TMEM70 NDUFAF6 FLNA STAT2 ZNF365 MEFV PYGM RASA1 NEK1 SOX6 NF1 FKTN NF1 CSRP3 RPL35 HCN4 SRY MYOT TDGF1 GATA4 GGCX TAPT1 TMEM216 COX15 SLC4A1 ROM1 PAX8 COX1 MCM4 TINF2 CD40 TOPORS ERCC2 SDHC NAA10 MPL POT1 CR2 COL1A1 FGG FOXE1 NLRC4 TFRC TRIM37 EXT2 LMNA KMT2A ITGB3 TBX3 STXBP1 DNM2 NCKAP1L ATXN7 ACADVL SERPINF2 LDB3 TPM2 PLEKHM1 PAX3 ELP1 IRF8 RMRP TGFBR2 STAG2 UQCRFS1 LMX1B SALL4 CFAP300 SIX3 BMPR1A DDB2 IGHM GJA1 HPGD MEFV KCNH2 KCNQ2 PALLD RNASEH2B NDUFAF8 MSX1 NOTCH3 BCL6 ISCU ABCC8 ATP11A FAM111A DBH ODAD1 SDHC CHRNG HBB SALL4 CTLA4 ATP7A RNF213 LOX PIGV CP POLR1A NMNAT1 ALPK3 GPC3 WNT5A CYP26C1 PTEN PPARG BBS7 DDX6 ABCC9 PQBP1 COG5 LMNA ETHE1 LDLR DVL1 RASGRP1 CHD7 TTC12 VCL GABRA3 KRT18 PROC KLLN IARS1 GPI GAS1 KIF23 ACTA2 KCNQ1OT1 WIPI2 THPO FGF8 GLI2 LBR PLCB4 ARID1B BRAF DSP IDUA ANKRD1 BCOR IL12A MMUT SF3B4 PEX7 CFB SCN1B UMPS SERPIND1 PLOD3 KIAA1109 TERT XPC SMCHD1 CD96 MYH7 ACP5 SPEG NT5E DNAJC21 MYCN IGBP1 LMNB1 ACTC1 OTX2 RHBDF2 RTL1 ESS2 FYB1 EXOC6B RPS26 SLC39A4 PIGA MID1 ARL2BP EPHB4 SFTPB ODC1 ASCL1 TTPA PIGL PEX10 ND2 GBE1 TP63 JAK1 DHPS RAI1 XPNPEP2 DNAJB13 COL2A1 AGBL5 CPT2 PROM1 PALB2 IL12B SDHC PDE6G LEPR JAK2 FGG PIGT TSPYL1 STAMBP FASLG KLF13 PIEZO1 EZH2 EPB41 RUNX1 B2M CORIN SPTA1 NR3C2 MYH6 KLHL41 PROP1 ADA2 LIMK1 DSP RPL5 HMGA2 KRAS CCM2 NDUFAF1 ERCC3 IDH3A EP300 NDUFA6 MCCC1 DCLRE1C FARSA CDC42 PLCG2 ACTC1 STAT4 C2 VAC14 PKHD1 DMD ND3 SIN3A COL7A1 CYP3A5 BRAT1 ZMIZ1 NUP107 PTCH1 LMNB1 HNRNPK ND1 IGHM TNNI3K TGIF1 TUBB GJA5 POLG FLNC HAVCR2 SMARCC2 ERCC2 TXNL4A RAB23 CD3E MLH1 BCHE SULT2B1 DISP1 PEX1 LOX DES PIK3R2 BPTF TNNC1 PPP2CA RNF168 TMEM126B FSCN2 ARCN1 PIGV IDUA NKX2-5 IGH CYBB COL5A2 BCOR JAK2 SERPING1 SLC12A3 DOLK NEU1 TGIF1 ADA STAT3 FIBP B4GALT7 ZMIZ1 HLA-B HDAC4 ECE1 CYP17A1 TSC1 ATP6V0A2 A2ML1 DPM3 RP1L1 PKDCC RPS26 MEFV ORAI1 CLIC2 ITCH SEMA4A ASXL1 TRIM8 WNT4 RPS27 SURF1 UFD1 RAF1 SERPINF2 SRP54 SCNN1B GBA DKC1 MYH7 COG7 TCIRG1 ALOXE3 BBS5 SF3B4 LAMB3 VANGL2 MYPN GLI3 LIPT1 KANSL1 PTCH1 EIF2AK3 PPA2 NDUFB10 FBN1 ARL6 ABCA3 STEAP3 GCH1 UNC13D FGFR1 FZD4 HTRA1 SALL1 CPT1A HLA-DQB1 SMC1A PCCB NDUFAF4 FAM13A NEXN KCNN4 LARS2 CTU2 CYP21A2 HSD17B10 TWIST1 SMC3 COG1 ARPC1B FBN1 CALR GATA1 WDR1 ACTC1 PRNP RHAG DOLK RBPJ INF2 HLA-DRB1 HNRNPA1 PHOX2B DPH1 MYLK TMEM94 PRPF4 ADAR SARS2 HDAC8 MLH3 COL4A1 STAG2 LRAT CITED2 EFL1 KIAA1549 TERC BUB3 CRX ITGB3 NSD1 BOLA3 KIAA1549 ATF6 TRIP13 MEG3 PRDM16 KMT2C AIRE MED13L ATP7B AMMECR1 BCR BBS2 GLB1 ABCC8 ACAD8 DSP CYP7B1 MYPN DLL1 VHL EXTL3 SH3PXD2B KCNE5 ARL6 MAN2B1 COMT MYORG ARX EMG1 AIP CSRP3 RHAG RAG2 FCGR2A GJA5 TMEM67 BTNL2 ADAMTSL2 WNT3 DSP SOX18 PIGN PAFAH1B1 HGD ITPR1 FN1 FBN1 PIEZO1 ACTN2 COL1A1 YY1AP1 NPM1 ATP6V0A2 ZBTB16 AHCY EPG5 COL7A1 DDB2 SHH CACNA1C KIT EGFR OSGEP LAMA3 TBX2 SPECC1L IKZF1 SPECC1L SAMD9 LMNA YY1 PIK3C2A LMBRD1 ELN IFT172 PDSS2 DNAAF4 SH2B3 HBG1 NDUFA2 LZTFL1 MYO5B KCNJ11 EVC2 CEP120 SEC63 UNG PTEN MYC GATA4 SLC26A2 SCNN1G NKX2-1 PLOD1 PLEC DLL1 FHL1 MUC1 KYNU ABCA1 TTC8 IGH CLIP2 H19 APOB LAMA4 PLCB3 IL6 GNAQ KCNE1 IGF1R SLC25A4 DYNC2LI1 GNAS GDF1 MYOZ2 IRF5 DST LMX1B ARMC9 NRAS KCNE1 MEN1 SIX3 HJV MYD88 THOC2 PORCN SNRNP200 SOX11 GNB5 SHOC2 CKAP2L SDCCAG8 AP3B1 POLG PDGFB CBL APOC2 POLA1 COL2A1 LPL MLYCD SON TSC1 MIR17HG DVL3 RGR HESX1 LAMP2 RANBP2 SCNN1B ALX1 IFT122 GNPTG NRAS ARL6 FGB STK11 PEX2 MRPS22 GPX4 PCCA TTC37 DACT1 WT1 SMAD4 DAXX KRT14 PACS2 RPS15A RAF1 LRRC6 TRNW DYNC2I2 TNFRSF1B SHH PDE6B WNK1 PKP1 CHST14 TRNV TANC2 KIT FLNA NFIX SLC12A3 ACAD8 PRKCH TBXA2R TRAC TJP2 CCNO FGFR2 IDUA MGP KIT NDUFS3 GBA HRAS FAM161A KCNQ1 NOD2 NOD2 ADK MYCN SLC25A20 POU1F1 TRNH GAS1 AKT3 RAG1 PTPN11 SLC26A2 GATA2 STAR HMCN1 IDH3B SLC7A7 CACNA1S RARB GATA6 DPP6 FGA CBS SUFU TKFC PCCB CASP10 SRP54 SUGCT TNFRSF13C RPS17 B3GAT3 EBP ATP6 PLN TCAP CHRNA3 KCNH1 KRT5 MED12 MRAS LMOD1 TNFSF11 MYLK2 DCDC2 CAT FGFR3 CYP11B1 P2RY11 FLAD1 ADA XRCC4 MECP2 KCTD1 ND3 ACAD9 GBA CLCF1 NUMA1 TNFRSF11A FBXL4 ASXL1 GDF3 F5 MRAS ROR2 NUP107 HCN4 TNFRSF11A TWIST1 CEP290 IRF8 HLA-DRB1 DDX6 TAZ ZIC3 SEMA4A SCN4A NDUFV1 DNAAF1 LPL HOXA11 TRAF7 ERCC4 CACNA2D1 SPTB FGFR1 RBM20 NDUFA13 BCORL1 PIGW SMOC1 KRT5 ATRX ACTG2 FOXH1 COG7 MUC5B GATAD1 PRKCD HSD11B2 BGN STAG2 NPPA NDUFAF3 MYPN PSAP ABCA1 PTEN TNNI3 KCNJ2 RBM10 GANAB TACR3 CD244 PEX14 KANSL1 TNFSF12 MAP3K7 DBH COG2 SDHB IDS DNAAF3 DNAAF3 MC2R BSCL2 TNFRSF4 NAGS MYMK B2M LDLRAP1 CPN1 CAV1 DYRK1A MYOC HLCS ALPK1 KCNJ5 SCN5A SMO NONO FLT4 MAPT LEP CYP7A1 GPC6 CASQ2 TAB2 CPOX ITCH USP45 RYR2 DPM3 ZNF423 CRYAB CEP120 KIF1B SPIB NKX2-5 SELENOI PIGL FGFR1 NDUFS8 NDUFB8 CACNA1C SPEF2 NECTIN1 PBX1 AEBP1 POMT1 RAC2 JAK2 SCN5A COQ4 TBL2 BMP2 BBS2 GINS1 CFAP298 AKR1D1 TBX19 SYNE2 ACTA2 METTL5 DNAH5 WIPF1 POMT1 TLL1 CSNK2A1 MEG3 FGG LMNA KRIT1 OFD1 GATA6 IL12A TPM3 IL6 TRNT LMNA PPP2R1A SURF1 BRCA1 PSMB8 CACNA1C STAG2 CRKL SEC23A CACNA1D CDKN2B GATC SGCD LRP5 ALX3 TAZ COL5A1 MUC5B SEMA3E MRPL12 TCTN1 CDON PROS1 SRSF2 BAP1 FXN PIK3CA FOXRED1 DPP9 ARF1 RAF1 CD79B HEXB SDHC XRCC2 FGFR2 MYPN ZIC2 CALR ITGA7 LTBP2 RPGRIP1 TRIP11 APC SOX2 ABCA1 EXT2 NF1 SPINK5 DSG4 RTEL1 TNNI3 GPC3 TGFB2 SMAD4 DYNC2I1 TPM1 DMPK POMT2 DCDC2 SKI PIK3CA EBP WT1 ANKRD11 NR3C1 HFE SAMD9L TRNW SMC1A KCNE2 ICOS RTTN RB1 HGD F5 FOXF1 CHST14 GLB1 KRAS NCF1 SMAD6 PTCH1 IL2RG B3GALT6 SF3B4 GLI2 RP1L1 OTULIN F8 TET2 SEC23B ZNF148 COX3 OBSL1 WRAP53 ACTN2 PAX3 NDUFV1 ATP7A HGSNAT GLUL CARMIL2 PDGFB ABCC6 STIM1 KDSR DGUOK PTEN TERT FAT4 ALG1 PSEN2 MYL4 COX14 ITGB3 IGFBP7 PHOX2B CHD7 RBM8A ROM1 NLRC4 F10 PTGIS TMEM70 POLD1 EMD TDP2 CACNA1S PRKCSH NUP155 ALPL PKLR TRNL1 CTC1 PEX5 SDHB GATA6 MYPN ALG10B MEN1 NDUFV2 SDHD CCDC39 HEPHL1 HSD17B10 WHCR ACSL4 GP6 MTMR14 COX1 NAA10 FGFR3 EP300 TNNI3 GMPPB NDUFS4 LZTFL1 CTNNB1 INPP5E KCNJ8 HCRT HLA-DRB1 DKC1 TERT SCN10A GGCX KRT8 ERCC4 SFTPB LMBR1 NDUFAF1 RFT1 CCDC65 HDAC8 HBA1 POMT1 SEC61A1 SLC25A11 FLII CLIC2 CPT2 ATP6 DHCR24 COA8 CAV3 LFNG RLIM SUZ12 MARS2 NEU1 XIAP HLA-B BTD SREBF1 FGFR2
HP:0004375: Neoplasm of the nervous system
Genes 281
BAP1 POLD1 SMARCE1 TUBB RET MEN1 RPS20 WRN SMO WRN CDKN2C EWSR1 VHL GCGR SDHD APC RET APC2 CDKN2A ASCL1 APC SDHD LMNA YY1 KIF1B EDN3 AKT1 MSH3 NSD1 PTEN CREBBP LRP5 PDGFB PDE6D SDHC EPCAM PTEN SMARCB1 NAB2 SUFU SDHB TGFBR2 NF2 RUNX1 SDHD CDKN2A CPLANE1 MDM2 TP53 WDPCP RET NF1 GCDH NF1 KARS1 KRIT1 GNAS TP53 GLI3 NTHL1 CCM2 SMARCB1 SMARCE1 APC BAP1 MEN1 EP300 PTEN DICER1 PIK3CA PMS1 CDKN2B FAM149B1 ALX3 NUTM1 PHOX2B DLST PMS2 IDH1 SEC23B MAPRE2 DLST AKT1 TSC1 PTCH1 DNMT3A PDGFRB RAF1 MEN1 MN1 TUBB CHEK2 ALX1 SDHB ALK GDNF SDHC EPAS1 PRDM16 ADAMTS3 PTCH1 BRCA2 DNMT3A DAXX MLH1 PALB2 EDN3 KRAS SDHD CDKN1B PHOX2B NF1 LMO1 TSC2 GPC4 USF3 POT1 RERE NBN TMEM127 PDCD10 NF1 NF1 NTHL1 POLE SKI SDHAF2 SDHC PRKAR1A SETBP1 KIT PIK3CA LMNA SDHA SDHB VHL FAN1 TCTN3 TMEM216 BRD4 SMARCB1 GLI3 SDHD HRAS SUFU NBN TSC1 TP53 SDHC SDHD SIX6 MYO1H C11ORF95 TERT FLI1 PIK3CA KIAA0753 ERBB2 GABRD SOX2 SDHC SEMA4A SDHA IDH2 DMPK CTNNB1 PDGFB NF2 KIF1B SMARCA4 NF2 SLC25A11 RET MLH1 PTEN GDNF PIK3CA ASCL1 ARMC5 SUFU NF2 NRAS PTEN NF2 PTCH2 GLI3 BAP1 TMEM127 FAT4 MAX BDNF SMARCB1 SDHAF2 MDH2 FGFR1 MSH6 NOTCH3 OFD1 CCBE1 TOP2A RET PHOX2B BMPR1A MAX CCND1 RNF43 ALX3 SETD2 PTCH2 SMO OCRL MSH3 EPHB2 PHOX2B MSH2 BRAF SDHB VHL LIN28B SDHC MYCN CREBBP KIF7 RET PIK3CA SDHB PHOX2B PHOX2B AKT1 KIF1B KEAP1 RELA AKT1 SDHB MLH3 STAT6 APC SDHD ZSWIM6 MAFA FH ALK CDKN1B CPLANE1 GPC3 TRAF7 DICER1 PRKAR1A BMPR1A NF1 SDHB ATRX BRCA2 NF1 OFD1 VHL SPRED1 PTPN11 SDHD CHEK2 KLLN HACE1 CDKN1B GDNF LZTR1 PTEN VHL CDKN1A SLC25A11 RET RB1 SDHB IDH1 SUFU WT1 TSC2 L2HGDH KCNAB2 IFNG APC TP53
Protein Mutations 3
G156A G20210A K27M
SNP 0
Protein Mutations 2
G20210A K27M
SNP 0
HP:0001513: Obesity
Genes 522
NTRK2 BLK MERTK SH2B1 PROK2 MAGEL2 FEZF1 MEGF8 ALG13 CUL4B MAGEL2 BBIP1 AGTR2 ZNF711 GTF2IRD1 SLC9A7 SLC7A14 RP1 OFD1 CEP164 PHF21A FRMPD4 BRAF RTL1 PHF6 BBS1 FGFR3 CNNM2 GNAS PDE6A CNGB1 ARVCF HACE1 LIPE ZNF408 HNF4A WDR11 CTNNB1 EIF2S3 RREB1 TOPORS IFT172 OCA2 IFT172 LZTFL1 RBP3 ERMARD ARX SAG TMEM43 PAX4 ATP10A CEP290 UBE3A NDN NDN SYNE1 BBS10 H6PD DMD RAB39B FLRT3 PROKR2 RTL1 PCNT SIM1 TTC8 CLIP2 ABCC8 ELN TBX3 IGF1R HIRA GP1BB GNAS VPS13B OFD1 BAP1 EMD ADNP SEC24C ELN KLF11 TULP1 KIDINS220 GNAS KIF7 RNPC3 GHR SNRNP200 CLCN4 P4HTM AKT2 PRMT7 IFT74 GDI1 NEUROD1 SIN3A RTL1 HESX1 PTCHD1 C8ORF37 PDE4D WNT4 CREBBP NPAP1 PDE4D VPS13B SDC3 BBS4 SLC7A7 ARL6 RP9 IFT88 TMEM67 SLC10A7 RHO MYT1L BLM PDX1 NPHP1 ARL3 IFT27 RPGR FGFR1 PDE6B DLK1 ATP6AP2 MEG3 MC3R ZNF365 SNORD115-1 ZNF513 SRY BBS10 SOX3 SPRY4 RLBP1 RAB23 MKRN3-AS1 TSPAN7 ACADVL PDSS1 FAM161A FTSJ1 ROM1 PCSK1 SNRPN TTC8 FGF17 MAPK8IP3 SH2B1 IGF1 ZNF81 HUWE1 IDH3B BBIP1 PDE4D USP8 CACNA1S EGF FHL1 USP8 BEST1 KMT2A GNAS PWRN1 TBX3 IPW RP2 WDPCP KMT2D XYLT1 BBS9 ARNT2 APPL1 SUFU FGF8 PAK3 IMPDH1 SNRPN MEGF8 DHDDS EIF2S3 BAP1 GCK RAI1 MCM3AP SH2B1 RPE65 SNRPN ZBTB20 SMARCB1 NKAP SPATA7 HDAC8 P2RY11 WT1 XRCC4 PRMT7 ARHGEF18 BBS9 POMC HLA-DQB1 HS6ST1 TRIM32 WT1 CREBBP CANT1 OCA2 NR0B2 THOC2 LMNA KLHL7 STX16 SDCCAG8 RAD21 ALMS1 SEMA4A USH2A CERKL FMR1 TRAF7 CYP19A1 PAX6 TNFSF4 PTEN FGFR1 BBS7 DDX6 AFF4 MAGEL2 ACSL4 CHD7 CCDC141 PCNT PRPF8 MID2 GABRA3 BBS7 HNF1A KDM6A CDHR1 SNRPN HLA-DRB1 DYNC2I2 UBE3A TRIM32 MAGEL2 PWAR1 TRIP12 KCNJ11 EYS SYNE2 ARL6 SHOX TACR3 CNKSR2 CEP19 CLRN1 NIPBL SMAD4 NDN MTTP TCF20 USP9X MKRN3 ADRB3 SETD2 OCA2 MRAP2 ENPP1 DHX38 IFT172 ADRB2 CARTPT CUL4B SMO SNRPN DLK1 LEP CYP7A1 ARL2BP MAN1B1 PRCD IL1RAPL1 PRPH2 CDH23 NEK2 NSMF NDN REEP6 JMJD1C CREBBP AGBL5 PDGFB PROM1 TBX1 MTFMT MECP2 MAN1B1 GNAS LEPR TBL2 POMC SIM1 TBX1 BBS2 PIGT SDCCAG8 SPG11 EHMT1 IFT140 PNKP PSMD12 RFC2 GATA4 SNORD116-1 LEPR MKKS LMNA LIMK1 BLK MED12 BBS12 MKS1 PCSK1 SMARCE1 ABCA4 IDH3A EP300 BBS1 KIZ ATRX BBS5 BDNF TRAPPC9 IMPG2 HESX1 MKS1 PDE11A SIN3A SOX10 MAGEL2 SYP RPS6KA3 TBX1 ZNF41 KISS1R MEG3 STEEP1 IQSEC2 TRAF3IP1 TUB TAF1 ATRX PRDM16 UBE3A C8ORF37 DEAF1 LEP AFF4 UBE3A RAB23 DNMT3A COA3 USP27X IQSEC2 GHRL BPTF LAS1L INS ARL13B PHIP EXOC6B MECP2 SNRPN RERE OTX2 RBMX SIM1 PNPLA6 SKI WAC DPYD POGZ DCC IL17RD POMGNT1 PDE6G HDAC4 SLC25A4 ALMS1 POU3F4 AKT2 PAX6 CCDC141 TRAPPC9 SEMA3A AHI1 MC4R HACE1 TERT BBS2 PKDCC PIK3CA GABRD ARMC5 RP1L1 CRB1 CNGA1 EHMT1 ANOS1 NF2 LARS2 UFD1 HGSNAT SH3KBP1 ARMC5 UCP3 CCDC28B GTF2I MAGEL2 HSD11B1 SHANK3 BBS5 PRPF3 GUCA1B INPP5E PPARG IGFALS FTO GNAS SETD5 ARL6 BBS4 RAI1 XYLT1 TTC8 NR2E3 PCARE IFT172 MAK MEG3 ADCY3 UPF3B SMC1A NDN PROK2 SOX2 DUSP6 POMC HCFC1 COL10A1 MKKS SMC3 FSCN2 ADNP GNAS-AS1 CA4 ALB MC4R NIN SNRPN IFT27 AKT1 RGR AHR PRPF4 MOG HDAC8 HERC2 ZNF711 TUB NDNF LRAT CEP290 DLG3 DYRK1B SCAPER CRX EP300 DLK1 KIAA1549 KCNJ18 MAGEL2 PROKR2 MLXIPL KIDINS220 FXR1 LZTFL1 BBS12 PRPF31 IQSEC2 PRPF6 AGRP HCRT BBS2 MOG APOE GNAS NRL PRKAR1A BAZ1B LAS1L RDH12 ARL6 COMT HDAC8 FLII ARHGEF6 FOXP1 AIP KCNAB2 C8ORF37 PHF6 GNAS RPS6KA3 PRKAR1A CTSH CEL OCA2
Protein Mutations 3
G20210A P12A W64R
HP:0000822: Hypertension
Genes 424
MAT2A WT1 LMNA HGD FN1 TRNL1 SERPINA6 YY1AP1 TRNK BBIP1 GTF2IRD1 TRNC KCNJ5 CLCN2 MGP TGFBR2 BBS1 CYP11B2 RET ARVCF KCNJ5 EGFR OSGEP SH2B3 TRNS2 SLC2A10 NKX2-5 LMNA RREB1 IFT172 LZTFL1 ND1 FBN1 FMO3 HLA-DPA1 GUCY1A1 APOB SCNN1G CEP164 BBS10 FUZ SDHB MUC1 REST ABCC6 TTC8 CLIP2 H19 ELN FGFR2 GATA5 PKD1 NF1 NPHP1 KCTD1 WNK4 HIRA GP1BB GNAS IRF5 EDA2R LMX1B NFU1 PLIN1 MEN1 SEC24C ELN GNAS COL3A1 NPHP1 SLC37A4 ERCC8 HLA-DPB1 NOTCH1 CFHR1 THSD1 SDCCAG8 DLST PKHD1 PPOX ACTN4 DNMT3A NOD2 SCNN1B C8ORF37 ECE1 XYLT1 ACTA2 GDNF CTLA4 PAM16 EPAS1 BBS4 ARL6 CCR6 DNAJB11 CDH23 ENPP1 WT1 DIS3L2 PKD2 MFAP5 GLA PKD2 NPHP1 TRNW NF1 IFT27 BANF1 CFI LMNA WNK1 WT1 ARHGAP31 SMARCAL1 FGFR2 STAT2 ACVRL1 CEP290 ADA2 NF1 SDHAF2 ENPP1 PRKAR1A IQCB1 PRTN3 TET2 SMAD6 XYLT2 NOD2 SDHD HPSE2 MYH11 SDHD COX1 PDE8B CAV1 C3 SMAD4 SCNN1G ELP1 USP8 EXT2 USP8 KIF1B SLC25A11 FBN1 CBS WDPCP BBS9 BRCC3 ACAT1 SPRY2 TRNF STAT1 SUGCT ELP1 SCNN1A GPR101 PPARG ZMPSTE24 MAX LRIG2 TRNS1 GJA1 ERCC8 BSCL2 CYP11B1 NPHP3 TRNE FIG4 CCND1 CD2AP KCTD1 TRAF3IP1 TRNK GBA TGFB2 CYTB HMBS GLA TRIM32 EDA SDHC TNFRSF11A LDLRAP1 MMP2 XPNPEP3 PKD1 KIF1B ABCC6 TRIM28 SDHB SDCCAG8 ALMS1 MAFB FN1 PTPN22 ACP5 ERCC4 LEMD3 CYP11B1 BBS7 SDHB LDLR SCNN1A NPHP4 KRT18 HSD11B2 CDKN1B CCN2 CUL3 GANAB PDE3A VANGL1 TSC2 ACTA2 PCSK9 CEP19 CFB SMAD4 MTTP COL4A5 LYZ FOXE3 IDS PRKG1 SLC37A4 PHF21A GUCY1A1 B2M RET INVS KCNJ5 PPARG WRN PLIN1 BMPR2 CDKN2C MMP14 VHL POU6F2 ELN COL4A3 CPOX ABCB6 CDH23 LMX1B THBD KIF1B SLC2A10 PDE11A JMJD1C CYP17A1 TRNK TBX1 IL12B COQ7 TBL2 TBX1 WDR19 LRP6 FMR1 SDHD CORIN RFC2 CACNA1H CYP11B1 MKKS ADA2 LIMK1 NOTCH3 MKS1 FLT1 BBS1 CACNA1D YY1AP1 CDKN2B ND6 LMNA MLX VAC14 PKHD1 TRIP13 PDE11A MEF2A IDS TRIM28 NDUFAF6 NOS3 TRNQ SDHB SDHC STOX1 SMAD3 ALX4 APRT LOX OFD1 IDUA TMEM127 COL3A1 AIP FBN1 LMNA CFH WT1 VHL NR3C1 CYP17A1 TSC1 ALMS1 SMAD4 POU3F4 FGA HMBS TP53 HBB ARMC5 BRCA2 SDHA CACNA1D