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. (FABRY-Image)

University Hospital of Bordeaux

Status

Unknown

Conditions

Fabry Disease

Treatments

Device: MRI without contrast agent injection

Diagnostic Test: Echocardiography at T0

Biological: Biological assays

Diagnostic Test: Echocardiography at M24

Diagnostic Test: Exercise test

Device: MRI with contrast agent injection

Study type

Observational

Funder types

Other

Identifiers

NCT03123523

CHUBX 2016/08

Details and patient eligibility

About

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)?

Enrollment

55 estimated patients

Sex

All

Ages

18+ years old

Volunteers

Accepts Healthy Volunteers

Inclusion criteria

Patients group :

Adults (age ≥18 years), male and female.
Patients diagnosed genetically having Fabry disease, with or without clinical cardiac symptoms and with different evolution stades of the disease.
For female in age of procreation, efficient contraception will be required and a negative pregnancy test.
Oral agreement of the patient after having read information note.
Patient affiliated to social national Security registry.

Healthy volunteers group:

Adults (age ≥18 years), male and female.
Unscathed of cardiovascular pathologies and cardiovascular risk factors.
For female in age of procreation, efficient contraception will be required and a negative pregnancy test.
Oral agreement of the patient after having read information note.
Patient affiliated to social national Security registry.

Exclusion criteria

For the 2 groups :

Extracardiac pathology limiting life expectancy <1 year (cancer).
Pregnant or breastfeeding female.
Claustrophobia.
Mechanical prosthetic valve.
Severe obesity > 140 kg
Patients with intracardiac device (implantable cardiac defibrillator, pace maker, resynchronisation), surgical clips not MRI compatible, neurosensorial stimulators, cochlear implants, ferromagnetic foreign bodies (ocular, cerebral), neurosurgical derivation valves)
Impossibility to provide consent or refusal to sign the consent form.

For the patients: