NCT05923788

T1 Mapping in Fabry Disease

T1 Mapping in Diagnosis and Follow up of Fabry Disease

• Status: Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 70 (estimated)
• Sponsor: Hospices Civils de Lyon · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

Summary

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.

Conditions

• Fabry Disease

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	T1 mapping measurement	T1 mapping values to test the ability of the MRI sequence to detect Gb3 in kidney

Timeline

• Start date: 2023-08-07
• Primary completion: 2026-08-07
• Completion: 2026-08-07
• First posted: 2023-06-28
• Last updated: 2026-03-24

Locations

2 sites across 1 country: France