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Report for Clinical Trial NCT02099214

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

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
MeSH: Hemochromatosis Iron Overload

7 Interventions

Name: 3Tesla cardiac MRI

Type: Device

Healthy volunteers Patients with HFE hereditary haemochromatosis

Name: Electrocardiogram (EKG)

Type: Device

Patients with HFE hereditary haemochromatosis

Name: Iron and cardiac markers

Description: Serum iron, serum transferrin, transferrin saturation, serum ferritin, NT-proBNP

Type: Biological

Patients with HFE hereditary haemochromatosis

Name: Pregnancy test

Description: Beta-hCG

Type: Biological

Patients with HFE hereditary haemochromatosis

Name: Echocardiography at rest

Description: Transthoracic echocardiograph

Type: Device

Healthy volunteers Patients with HFE hereditary haemochromatosis

Name: Urinary pregnancy test

Type: Biological

Healthy volunteers

Name: 3Tesla abdominal MRI

Type: Device

Patients with HFE hereditary haemochromatosis


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

Purpose: Diagnostic

Allocation: Non-Randomized

Parallel Assignment


There is one SNP

SNPs


1 C283Y

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 ---



HPO Nodes