Fabry Disease
Conditions
Brief 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)?
Interventions
DIAGNOSTIC_TESTEchocardiography at T0
DIAGNOSTIC_TESTExercise test
BIOLOGICALBiological assays
Creatinin, hematocrit and BNP assays
DEVICEMRI with contrast agent injection
With injection of gadolinium
DEVICEMRI without contrast agent injection
Without injection of gadolinium
DIAGNOSTIC_TESTEchocardiography at M24
Sponsors
University Hospital, Bordeaux
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
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: \- Previous history of hypersensitivity to gadolinium.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Cardiovascular symptoms | Baseline | Dyspnea, angor, syncope and lipothymia, palpitations, heart failure signs |
| Metabolic exercise test marker : poor blood pressure adaptation to exercise | Baseline | — |
| Metabolic exercise test marker: max level achieved | Baseline | — |
| Metabolic exercise test marker : percentage of theoretical maximal heart rate | Baseline | — |
| Metabolic exercise test marker : peak of Oxygen uptake (VO2) | Baseline | — |
| Metabolic exercise test marker : percentage of expected peak VO2 | Baseline | — |
| Metabolic exercise test marker : Expiratory volume / carbon dioxide production (VE/VCO2) | Baseline | — |
| Biological marker : BNP elevation | Baseline | — |
| Electrical markers at ECG and Holter ECG | Baseline | Measure of conduction troubles; supra-ventricular and ventricular arrhythmias. |
Countries
France
Contacts
Primary ContactRéant patricia, MD
Backup ContactCarpentier Céline
Outcome results
None listed