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More info
You can access this
clinical trial
if you have
Fabry Disease
and you are
over 18
years old
-
This is an observational trial.
You are contributing to medical knowledge about your condition.
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The purpose

Anderson-Fabry disease is a genetic lysosomal storage disease, linked to chromosome X (gene GLA), responsible of enzyme synthesis deficit in α-galactosidase A with intracellular sphingolipids accumulation and multiorganic achievement. If renal complication is principally responsible of the pejorative evolution of the disease, it may also exist a cardiac achievement, symptomatic or not (heart failure symptoms including dyspnea, conduction abnormalities, supra-ventricular and ventricular arrhythmias), with or without left ventricular hypertrophy (LVH). Administration of agalsidase-α or ß, a genetic engineering synthetic equivalent of the deficient enzyme, should significantly slow disease evolution indeed reduce LVH. Some patients with Fabry disease without LVH should present, compared to healthy subjects, indirect early markers of intramyocyte lipid overload: - in echocardiography, longitudinal myocardial deformation (strain) should be altered while ejection fraction is preserved, and - in cardiac MRI, T1 mapping should be reduced1. This was also previously demonstrated in Fabry patients with LVH2. However, are these abnormalities of longitudinal deformation in echocardiography and of T1 mapping in MRI correlated to the presence of pejorative cardiac markers (such as clinical and functional tolerances, Brain Natriuretic Peptide (BNP) level and electrical complications)?

Provided treatments

  • DiagnosticTest: Echocardiography at T0
  • DiagnosticTest: Exercise test
  • Biological: Biological assays
  • Device: MRI with contrast agent injection
  • Device: MRI without contrast agent injection
  • DiagnosticTest: Echocardiography at M24
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Locations near you

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Tris trial is registered with FDA with number: NCT03123523. The sponsor of the trial is University Hospital, Bordeaux and it is looking for 55 volunteers for the current phase.
Official trial title: