There are 2 clinical trials
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.
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 ---
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
Description: Comparison of the mean T2 values in healthy volunteers and patients with HFE-related haemochromatosisMeasure: Mean T2 values in healthy volunteers and patients with HFE-related haemochromatosis 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
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.
In Norway the prevalence of C283Y homozygosity is approximately 0.75 in both genders. --- C283Y ---
Description: Marker of oxidative DNA damageMeasure: Change of 8-oxodG in urine Time: 0, 6 and 12 months
Description: Cu,Zn-Super Oxid Dismutase (SOD)is an antioxidant enzymeMeasure: Change of Cu,Zn-SOD activity in erythrocyte hemolysate Time: 0, 6 and 12 months
Description: Serum analysisMeasure: 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