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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.

NCT03123523 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 55

Last updated 2017-04-21

No results posted yet for this study

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

Interventions

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

Sponsors & Collaborators

  • University Hospital, Bordeaux

    lead OTHER

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2016-10-18
Primary Completion
2020-04-18
Completion
2020-04-18

Countries

  • France

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03123523 on ClinicalTrials.gov