SNPMiner Trials (Home Page)
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 monthsSecondary Outcomes
Measure: Change of hepcidin concentration in serum Time: 0, 6 and 12 monthsMeasure: 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 monthsDescription: 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 monthsDescription: 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 posttreatmentDescription: 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 monthsMeasure: 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 posttreatment2 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 1Secondary 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 1Measure: 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 1Description: Correlation between pancreas T2/T2* and myocardial T2/T2*
Measure: Pancreas T2/T2* values Time: Day 1Description: Correlation between spleen T2/T2* and myocardial T2/T2*
Measure: Spleen T2/T2* values Time: Day 1