T1 Mapping in Fabry Disease (MAP-FAB)
Status
Conditions
Treatments
Study type
Funder types
Identifiers
Details and patient eligibility
About
Fabry disease (OMIM-301500, FD) is a lysosomal storage disease with X-linked inheritance secondary to mutations in the α-galactosidase A gene (GLA), which cause absence or decreased activity of the lysosomal hydrolase a-galactosidase A (a-gal A). The accumulation of globotriaosylceramide (Gb3) leads to multiple organs dysfunction, especially in three key organs: kidney, heart and cerebrovascular system. Progressive nephropathy is one of the main features of Fabry disease and is marked by an insidious development. The investigators are facing different current challenges about treatment initiation in non-classic phenotype patients, optimal dose after treatment initiation, and treatments monitoring in Fabry nephropathy. That is even more important that the enzyme replacement therapy is expensive and a lifelong commitment.
Functional magnetic resonance imaging (MRI) is now able to provide T1 mapping sequence. In Fabry disease, T1 mapping is currently used to assess the degree of myocardial involvement. The MRI for assessement of Fabry Cardiomyopathy is now recommended by the 2022 national diagnostic and care protocol (PNDS) in France. However there is no data about T1 mapping values in kidney in Fabry's disease The main Objective is to describe renal performance through multi-parametric MRI in Fabry nephropathy and the primary outcome will be the quantification of renal T1 in Fabry patients.
Enrollment
Sex
Ages
Volunteers
Inclusion criteria
- Patient with confirmed Fabry disease Or Control patients: Patients undergoing renal functional exploration for a reason other than Fabry disease, amyloidosis, hemochromatosis
- Adult patient
- Patient informed of the study and agree to participate
- Patient affiliated to a social security or beneficiaries of a similar scheme
Exclusion criteria
- Weight > 130 kg
- kidney transplant,
- polycystic kidney disease,
- Pregnant, parturient or breastfeeding
- Contraindications to MRI
- Subject participating in another research including an exclusion period still in progress at inclusion
- Persons deprived of their liberty by a judicial or administrative decision,
- Adults subject to a legal protection measure (safeguard measure, guardianship, curators)
Trial design
Primary purpose
Allocation
Interventional model
Masking
70 participants in 2 patient groups
Trial contacts and locations
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Central trial contact
SANDRINE LEMOINE, PU-PH; Marine GIRERD
Data sourced from clinicaltrials.gov
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