Anderson-Fabry Disease
Conditions
Keywords
Enzyme replacement therapy
Brief summary
Anderson Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase. AFD can involve various organs and lead to a series of clinical abnormalities. Left ventricular hypertrophy in middle-aged men is one of its life threatening complications. It was shown that pending the absence of myocardial replacement fibrosis, substitution therapy could improve myocardial morphology and function as well as exercise capacity. Today, there is no available marker of the efficacy of the treatment on the heart morphology and function. The T1 time (or longitudinal relaxation time) is one of the major components of the image formation in Magnetic Resonance Imaging (along with T2 time and proton density). Several techniques have been described to assess the myocardial T1-time. One of them called MOLLI (Modified Look Locker Inversion Recovery), was made available in research centres by the Siemens company. In a study published in 2013, Sado et al. showed in a series of various conditions (hypertension, AFD, hypertrophic cardiomyopathy, AL amyloidosis, aortic stenosis and healthy volunteers) that a septal T1 below a threshold of 940ms could discriminate AFD patients. No overlap was shown with other conditions in this study. Our experience with T1 mapping supports that finding (even though our threshold could be slightly different), and we could recently detect by MRI a number of AFD patients, some of them with hypertrophy, some others without hypertrophy. The effect of Replagal® on the T1 relaxation time remains unknown. The purpose of that study was to follow-up the heart morphology, function and myocardial T1 relaxation time in a population of treated/untreated patients.
Interventions
DRUGEnzyme replacement therapy (Agalsidase alpha (Replagal®))
Patient treated with Enzyme replacement therapy as usual (Agalsidase alpha (Replagal®)). The treatment is prescribed in routine and not specially for the protocol
PROCEDUREMagnetic Resonance Imaging
Magnetic Resonance Imaging will be assessed every 6 months during 2 years
Sponsors
University Hospital, Rouen
Study design
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Patient with proven Anderson Fabry Disease * Patient with no Agalsidase alpha (Replagal®) treatment or * Patient with Agalsidase alpha (Replagal®) treatment ongoing
Exclusion criteria
* Pace Maker / Implantable Cardiac Defibrillator * Claustrophobia * Ocular foreign body * Allergy to gadolinium chelates * Pregnancy ongoing * Age \< 18 years l
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Difference from baseline in Septal myocardial T1 relaxation time | 24 months | Septal myocardial T1 relaxation time will be evaluated using MRI for treated and untreated patient |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Difference from baseline in Septal myocardial T1 relaxation time | 6 months | Septal myocardial T1 relaxation time will be evaluated using MRI for treated and untreated patient |
Countries
France
Contacts
PRINCIPAL_INVESTIGATORJean-Nicolas DACHER, Pr
University Hospital, Rouen
Outcome results
None listed