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(NCT03123523)

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)?
  • DiagnosticTest: Echocardiography at T0
    • DiagnosticTest: 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
            • DiagnosticTest: Echocardiography at M24
              Ages eligible for Study
              18 Years and older
              Genders eligible for Study
              All
              Accepts Healthy 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:
              • Previous history of hypersensitivity to gadolinium.

              1 locations

              France (1)
              • CHU de Bordeaux
                recruiting
                Pessac, France, 33604
              Status:
              recruiting
              Type:
              Observational
              Phase:
              -
              Start:
              17 October, 2016
              Updated:
              17 April, 2017
              Participants:
              55
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