SNPMiner Trials by Shray Alag


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Report for Mutation C283Y

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 Deferasirox Versus Venesection in Patients With Hemochromatosis and for Treatment of Transfusional Siderosis in Myelodysplastic Syndrome: Diagnostics and New Biomarkers.

Hypothesis: Deferasirox can be used as a therapeutic agent to deplete the liver, heart and bone marrow of excess iron in patients with iron overload caused by myelodysplastic syndrome (MDS) and hemochromatosis (HC. Assess the effect of new serum biomarkers (NTBI and hepcidin) and MRI as indicators of iron overload and their usefulness to monitor iron depletion treatment. Study the effect of iron overload and iron depletion on intracellular signal transduction, trace metals concentrations in serum and urine and markers of oxidative stress in blood cells and urine.

NCT01892644 Hemochromatosis Myelodysplastic Syndromes Drug: Deferasirox Other: Venesection Drug: Deferasirox
MeSH: Preleukemia Myelodyspla Myelodysplastic Syndromes Hemochromatosis Iron Overload Syndrome
HPO: Myelodysplasia

In Norway the prevalence of C283Y homozygosity is approximately 0.75 in both genders. --- C283Y ---

Primary Outcomes

Measure: Changes from baseline in liver iron concentration (LIC) and heart iron concentration (HIC) determined by Magnetic Resonance Imaging (MRI), and in bone marrow iron content determined by microscopy after treatment with deferasirox.

Time: 0, 6 and 12 months

Secondary Outcomes

Measure: Change of hepcidin concentration in serum

Time: 0, 6 and 12 months

Measure: Change of non-transferrin bound iron (NTBI) concentration in serum

Time: 0, 6 and 12 months

Measure: Change of multiple trace metals in serum

Time: 0, 6 and 12 months

Measure: Change of intracellular signal molecules, mTOR, NFkB and stress sensor p53 in blood cells

Time: 0, 6 and 12 months

Description: Marker of oxidative DNA damage

Measure: Change of 8-oxodG in urine

Time: 0, 6 and 12 months

Description: Cu,Zn-Super Oxid Dismutase (SOD)is an antioxidant enzyme

Measure: Change of Cu,Zn-SOD activity in erythrocyte hemolysate

Time: 0, 6 and 12 months

Description: Serum analysis

Measure: Clinical chemistry: Na, K, Ca, Creatinine, creatinine kinase, CRP, alanine aminotransferase (ALAT), aspartate aminotransferase (ASAT), alkaline phosphatase (ALP), gamma-glutamyl transferase (GT), lactate dehydrogenase (LD), albumin, bilirubin.

Time: 0, 2,4,6,8 weeks, 3,4,5,6,7,8,9,10,11,12 months, 5 weeks posttreatment

Description: Morning spot urine sample.

Measure: Urine routine test strip for detection of blood, protein, and nitrite

Time: 0,2,4,6,8 weeks and 3,4,5,6,7,8,9,10,11,12 months

Measure: Ferritin concentration in serum

Time: 0,2,4,6,8 weeks, 3,4,5,6,7,8,9,10,11,12 months, 5 weeks post treatment

Measure: Transferrin saturation in serum

Time: 0,2,4,6,8 weeks, 3,4,5,6,7,8,9,10,11,12 months, 5 weeks post treatment

Measure: HbA1c

Time: 0, 2,6,12 months

Measure: INR ( International normalized ratio)

Time: 0,2,6,12 months

Measure: Analysis of hemoglobin, reticulocytes, hematocrit, MCV, leukocyte count (total and differential), and platelets

Time: 0, 2,4,6,8 weeks, 3,4,5,6,7,8,9,10,11,12 months, 5 weeks posttreatment

Measure: Urine trace metals

Time: 0, 6 and 12 months

Measure: Bone marrow sample

Time: 0, 6 and 12 months

Other Outcomes

Measure: Pregnancy urin test (hCG)

Time: 0, 6 and 12 months, 5 weeks posttreatment

2 Estimation of Myocardial Iron Overload by 3 Tesla MRI and Cardiac Functional Consequences in Patients With HFE Hereditary Haemochromatosis. Pilot Study

Hereditary haemochromatosis (HHC) is a frequent disease in Brittany (5 to 7‰), responsible first for biological disorder in blood iron parameters and minor clinical disorders, before evolving to potential life-threatening consequences such as diabetes, liver cirrhosis and congestive heart failure. The improvement of screening and treatments made those severe affections rare enough not to evaluate myocardial iron overload a systematic part of the starting check-up. Nonetheless this myocardial iron overload might have severe implications on cardiac function on a long term basis. A single trial was conducted on limited number of patients with 1.5 Tesla MRI, which showed a myocardial iron overload (defined by a myocardium T2* value <20ms) in 19% of the subjects. The main objective of this study is to precisely estimate cardiac iron overload in treatment naive patients with newly diagnosed HFE hereditary haemochromatosis with a 3 Tesla MRI, more sensitive than the 1.5 Tesla one, in order to later appreciate its correlation with cardiac morbidity in HHC.

NCT02099214 Myocardial Iron Overload HFE-Associated Hereditary Hemochromatosis Device: 3Tesla cardiac MRI Device: Electrocardiogram (EKG) Biological: Iron and cardiac markers Biological: Pregnancy test Device: Echocardiography at rest Biological: Urinary pregnancy test Device: 3Tesla abdominal MRI
MeSH: Hemochromatosis Iron Overload

Inclusion Criteria: Patients : - Adults older than 18 ; - Newly diagnosed with HFE hereditary haemochromatosis by genetic testing (homozygous for the C283Y mutation on HFE gene); - Treatment-naive; - Showing a ferritin level higher than 200µg/l for women and higher than 300µg/L for men; - Affiliated to French Social Security; - Having given a written informed consent. --- C283Y ---

Primary Outcomes

Description: Assessment of the percentage rate of patients presenting a lower T2* value than the baseline defined by the mean of T2* values measured in healthy volunteers with a 1 standard deviation margin.

Measure: Myocardial T2* values in haemochromatosis compared to healthy volunteers

Time: Day 1

Secondary Outcomes

Description: Comparison of the mean T2 values in healthy volunteers and patients with HFE-related haemochromatosis

Measure: Mean T2 values in healthy volunteers and patients with HFE-related haemochromatosis

Time: Day 1

Measure: Echocardiographic parameters of systolic and diastolic functions and myocardial deformation

Time: Day 1

Measure: Myocardial T2 and T2* values in both groups

Time: Day 1

Description: Correlation between liver T2/T2* and myocardial T2/T2*

Measure: Liver T2/T2* values

Time: Day 1

Description: Correlation between pancreas T2/T2* and myocardial T2/T2*

Measure: Pancreas T2/T2* values

Time: Day 1

Description: Correlation between spleen T2/T2* and myocardial T2/T2*

Measure: Spleen T2/T2* values

Time: Day 1


HPO Nodes


Myelodysplasia
Genes 93
NAGS MPL SLX4 TET2 TERT TRIP13 DDX41 SBDS TP53 ATRX TET2 SF3B1 BUB1B TCIRG1 DNAJC21 RFWD3 BUB1 TET2 FANCL ATRX ASXL1 TET2 JAK2 SAMD9 SRP54 RPS14 PALB2 GINS1 SMARCD2 GATA2 SF3B1 BUB3 GATA2 SRP54 TET2 FANCB FANCE TET2 FANCM RFWD3 EFL1 RAD51 PIGA SRP54 DNAJC21 RAF1 DKC1 MPL RUNX1 MPL FANCD2 BRAF LIG4 FANCG RECQL4 THPO NBEAL2 CALR JAK2 TERC ERCC4 FANCI ELANE GATA2 SRP72 FANCG ASXL1 FANCC BRCA1 ERBB3 PTPN11 BRIP1 GFI1 SRSF2 HSPA9 KIT HAX1 GFI1B MAD2L2 CEP57 RPS14 FANCF SH2B3 XRCC2 RPS19 TINF2 SBDS TET2 BRCA2 RAD51C UBE2T JAK2 FANCA