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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:
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients group | 35 patients |
| |
| Healthy volunteers | 20 healthy volunteers |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Echocardiography at T0 | Diagnostic Test |
| ||
| Exercise test |
| Measure | Description | Time Frame |
|---|---|---|
| Cardiovascular symptoms | Dyspnea, angor, syncope and lipothymia, palpitations, heart failure signs | Baseline |
| 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 | Measure of conduction troubles; supra-ventricular and ventricular arrhythmias. | Baseline |
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Inclusion Criteria:
Patients group :
Healthy volunteers group:
Exclusion Criteria:
For the 2 groups :
For the patients:
- Previous history of hypersensitivity to gadolinium.
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- The 35 patients will be selected from Dr Réant (Cardiologist) and Dr Rooryck-Thambo's (Genetician) consultations, co-responsible of the Regional Competence Centre in Inherited Cardiomyopathies (Bordeaux, france) and from a medical specialized group following regularly these patients (Dr Valérie de Précigout in Nephrology at Bordeaux Pellegrin Hospital, Pr Cyril Goizet and Pr Didier Lacombe in Genetics at Bordeaux Pellegrin Hospital).
Inclusion will be performed according to current management and follow-up recommendations.
- The 20 healthy volunteers will be recruited form a local database (" HSync Study " of Dr Cornolle). Their consent will be requested at inclusion.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Réant patricia, MD | Contact | (0)5 57 65 64 85 | +33 | patricia.reant@chu-bordeaux.fr |
| Carpentier Céline | Contact | (0)5 57 65 61 68 | +33 | celine.carpentier@chu-bordeaux.fr |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CHU de Bordeaux | Recruiting | Pessac | 33604 | France |
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| Diagnostic Test |
|
| Biological assays | Biological | Creatinin, hematocrit and BNP assays |
|
| MRI with contrast agent injection | Device | With injection of gadolinium |
|
| MRI without contrast agent injection | Device | Without injection of gadolinium |
|
| Echocardiography at M24 | Diagnostic Test |
|
| ID | Term |
|---|---|
| D000795 | Fabry Disease |
| ID | Term |
|---|---|
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D059345 | Cerebral Small Vessel Diseases |
| D002561 | Cerebrovascular Disorders |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008661 | Metabolism, Inborn Errors |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D052439 | Lipid Metabolism Disorders |
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| ID | Term |
|---|---|
| D005080 | Exercise Test |
| D001681 | Biological Assay |
| ID | Term |
|---|---|
| D006334 | Heart Function Tests |
| D003935 | Diagnostic Techniques, Cardiovascular |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D012129 | Respiratory Function Tests |
| D003948 | Diagnostic Techniques, Respiratory System |
| D016552 | Ergometry |
| D008919 | Investigative Techniques |
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