T1 Mapping in Fabry Disease (MAP-FAB)

T1 Mapping in Diagnosis and Follow up of Fabry Disease

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.

Study Overview

• Status: Completed
• Conditions: Fabry Disease
• Intervention / Treatment: Diagnostic test: T1 mapping measurement

• Study Type: Interventional
• Enrollment (Actual): 70
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Lyon, France, 69003
    • Hopital Edouard Herriot

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

Description

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)

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Allocation: Non-Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: Fabry disease	Diagnostic test: T1 mapping measurement; T1 mapping values to test the ability of the MRI sequence to detect Gb3 in kidney
Other: Patients undergoing renal functional exploration; Patients undergoing renal functional exploration for a reason other than Fabry disease, amyloidosis, hemochromatosis	Diagnostic test: T1 mapping measurement; T1 mapping values to test the ability of the MRI sequence to detect Gb3 in kidney

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
T1 value measured	Difference in the measurement of T1 mapping by MRI in Fabry disease patients compared with controls. T1 mapping is a MRI sequence to estimate renal fibrosis	Day 1

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Apparent diffusion coefficient (ADC) coefficient values	ADC coefficient values to measure the degree of fibrosis in Fabry nephropathy in Fabry disease patients compared with controls.	Day 1
R2* coefficient values	R2* values to measure the degree of renal alteration in Fabry nephropathy in Fabry disease patients compared with controls.	Day 1
T2 value measured	Comparison of T2 values measured by T2 mapping MRI between patients with Fabry disease and controls. T2 mapping is a MRI sequence to estimate renal alteration	Day 1
T1 mapping measurement Fabry disease	Comparison of T1 mapping values within 3 different subgroups of patients with Fabry disease (treated men, treated or untreated women)	Day 1
In Fabry disease patients, evaluation of the association between the T1 values measured and concentration of plasma globotriaosylsphingosine (LysoGb3)		Day 1
In Fabry disease patients, evaluation of the association between glomerular filtration rate and ADC value measured	ADC value measured by diffusion-weighted MRI	Day 1
In Fabry disease patients, evaluation of the association between glomerular filtration rate and R2* value measured	R2* value measured by blood oxygen level-dependent (BOLD) MRI	Day 1
In Fabry disease patients, evaluation of the association between glomerular filtration rate and T2 value measured	T2 value measured by T2 mapping MRI	Day 1
In Fabry disease patients, evaluation of the association between proteinuria and ADC value measured	ADC value measured by diffusion-weighted MRI	Day 1
In Fabry disease patients, evaluation of the association between proteinuria and R2* value measured	R2* value measured by BOLD MRI	Day 1
In Fabry disease patients, evaluation of the association between proteinuria and T2 value measured	T2 value measured by T2 mapping MRI	Day 1

Collaborators and Investigators

• Sponsor: Hospices Civils de Lyon

Study record dates

Study Major Dates

• Study Start (Actual): August 7, 2023
• Primary Completion (Actual): April 29, 2026
• Study Completion (Actual): April 29, 2026

Study Registration Dates

• First Submitted: May 24, 2023
• First Submitted That Met QC Criteria: June 27, 2023
• First Posted (Actual): June 28, 2023

Study Record Updates

• Last Update Posted (Actual): June 2, 2026
• Last Update Submitted That Met QC Criteria: May 29, 2026
• Last Verified: March 1, 2026

More Information

Terms related to this study

• Keywords: functional MRI; Fabry Disease; T1 mapping; Fabry nephropathy
• Additional Relevant MeSH Terms: Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Vascular Diseases; Cardiovascular Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Lipid Metabolism Disorders; Genetic Diseases, X-Linked; Lysosomal Storage Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases, Nervous System; Cerebral Small Vessel Diseases; Sphingolipidoses; Lipidoses; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Fabry Disease
• Other Study ID Numbers: 69HCL22_0934; 2023-A00475-40 (Other Identifier: ID-RCB)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No