NCT03123523

Study of the Relation Between Lipid Myocardial Overload Evaluated by Cardiac Magnetic Resonance Imaging (MRI), Alteration of Longitudinal Myocardial Deformations by Echocardiography, and Clinical Achievements (Functional, Biological and Electrical) in Fabry Disease, and Its Outcomes.

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 55 (estimated)
• Sponsor: University Hospital, Bordeaux · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Accepted

Summary

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)?

Conditions

• Fabry Disease

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Echocardiography at T0
DIAGNOSTIC_TEST	Exercise test
BIOLOGICAL	Biological assays	Creatinin, hematocrit and BNP assays
DEVICE	MRI with contrast agent injection	With injection of gadolinium
DEVICE	MRI without contrast agent injection	Without injection of gadolinium
DIAGNOSTIC_TEST	Echocardiography at M24

Timeline

• Start date: 2016-10-18
• Primary completion: 2020-04-18
• Completion: 2020-04-18
• First posted: 2017-04-21
• Last updated: 2017-04-21

Locations

1 site across 1 country: France