NCT05923788Completed
T1 Mapping in Fabry Disease
T1 Mapping in Diagnosis and Follow up of Fabry Disease
Source: ClinicalTrials.gov · Last updated 2 Jun 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Completed
- Study type
- Interventional
- Enrollment
- 70 (actual)
- First submitted
- 24 May 2023
- Start date
- 7 Aug 2023
- Primary completion date
- 29 Apr 2026
- Lead sponsor
- Hospices Civils de Lyon
- Diseases
- Fabry disease
- NCT number
- NCT05923788
What you commit to
- Study type: Interventional
- Participants enrolled: 70
- From 7 Aug 2023 to the primary completion date, 29 Apr 2026
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Prior treatment
- kidney transplant,
Other illness
- polycystic kidney disease,
Other
- Weight \> 130 kg
- 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)
Who the study is looking for
- 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
Age in the registry: 18 years to - · Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Hopital Edouard Herriot Coordinator of this site? Confirm its status | Lyon | France | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.