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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patient treated with Enzyme replacement therapy | Experimental | Magnetic Resonance Imaging will be done every 6 months for patient treated with Enzyme replacement therapy (Agalsidase alpha (Replagal®)) |
|
| Patient no treated with Enzyme replacement therapy | Sham Comparator | Magnetic Resonance Imaging will be done every 6 months for patient treated with Enzyme replacement therapy (Agalsidase alpha (Replagal®)) |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Enzyme replacement therapy (Agalsidase alpha (Replagal®)) | Drug | Patient treated with Enzyme replacement therapy as usual (Agalsidase alpha (Replagal®)). The treatment is prescribed in routine and not specially for the protocol |
| Measure | Description | Time Frame |
|---|---|---|
| Difference from baseline in Septal myocardial T1 relaxation time | Septal myocardial T1 relaxation time will be evaluated using MRI for treated and untreated patient | 24 months |
| Measure | Description | Time Frame |
|---|---|---|
| Difference from baseline in Septal myocardial T1 relaxation time | Septal myocardial T1 relaxation time will be evaluated using MRI for treated and untreated patient | 6 months |
| Difference from baseline in Septal myocardial T1 relaxation time |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Jean-Nicolas DACHER, Pr | University Hospital, Rouen | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Rouen University Hospital | Rouen | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 39988522 | Result | Senlis J, Labombarda F, Burel J, Flouriot A, Normant S, Demeyere M, Lairez O, Ghannudi SE, Jacquier A, Ghekiere O, Cadour F, Dacher JN. Cardiac magnetic resonance imaging in the follow-up of patients with Fabry cardiomyopathy. Diagn Interv Imaging. 2025 Jul-Aug;106(7-8):247-254. doi: 10.1016/j.diii.2025.02.002. Epub 2025 Feb 23. |
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| ID | Term |
|---|---|
| D000795 | Fabry Disease |
| ID | Term |
|---|---|
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
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| ID | Term |
|---|---|
| D056947 | Enzyme Replacement Therapy |
| D000519 | alpha-Galactosidase |
| C000627036 | agalsidase alfa |
| D009682 | Magnetic Resonance Spectroscopy |
| ID | Term |
|---|---|
| D057487 | Enzyme Therapy |
| D004358 | Drug Therapy |
| D013812 | Therapeutics |
| D005696 | Galactosidases |
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| Magnetic Resonance Imaging | Procedure | Magnetic Resonance Imaging will be assessed every 6 months during 2 years |
|
Septal myocardial T1 relaxation time will be evaluated using MRI for treated and untreated patient
| 12 months |
| Difference from baseline in Septal myocardial T1 relaxation time | Septal myocardial T1 relaxation time will be evaluated using MRI for treated and untreated patient | 18 months |
| 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 |
| D006026 |
| Glycoside Hydrolases |
| D006867 | Hydrolases |
| D004798 | Enzymes |
| D045762 | Enzymes and Coenzymes |
| D013057 | Spectrum Analysis |
| D002623 | Chemistry Techniques, Analytical |
| D008919 | Investigative Techniques |