T1 Mapping in Fabry Disease

NCT05923788 | Recruiting

• 2 other identifiers: 69HCL22_09342023-A00475-40
• Study Type: interventional
• Target: 70
• Locations: 1 country
• Sites: 2

Brief 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

Keywords

Fabry Disease; T1 mapping; functional MRI; Fabry nephropathy

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (11)

• Apparent diffusion coefficient (ADC) coefficient values

  Day 1

• R2* coefficient values

  Day 1

• T2 value measured

  Day 1

• T1 mapping measurement Fabry disease

  Day 1

• In Fabry disease patients, evaluation of the association between the T1 values measured and concentration of plasma globotriaosylsphingosine (LysoGb3)

  Day 1

Study Arms (2)

Fabry disease

OTHER

Diagnostic Test: T1 mapping measurement

Patients undergoing renal functional exploration

OTHER

Patients undergoing renal functional exploration for a reason other than Fabry disease, amyloidosis, hemochromatosis

Diagnostic Test: T1 mapping measurement

Interventions

T1 mapping measurement DIAGNOSTIC_TEST

T1 mapping values to test the ability of the MRI sequence to detect Gb3 in kidney

Fabry disease; Patients undergoing renal functional exploration

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• Weight \> 130 kg
• kidney transplant,
• polycystic kidney disease,
• Pregnant, parturient or breastfeeding
• Contraindications to MRI
• Persons deprived of their liberty by a judicial or administrative decision,
• Adults subject to a legal protection measure (safeguard measure, guardianship, curators)

Sponsors & Collaborators

• Hospices Civils de Lyon: lead

Study Sites (2)

Hopital Femme Mère Enfant

Bron, 69500, France

NOT YET RECRUITING

Hopital Edouard Herriot

Lyon, 69003, France

RECRUITING

MeSH Terms

Conditions

Fabry Disease

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Central Study Contacts

SANDRINE LEMOINE, PU-PH

CONTACT

04 72 11 02 44; sandrine.lemoine01@chu-lyon.fr

Marine GIRERD

CONTACT

0472110620; marine.girerd@chu-lyon.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 24, 2023
• First Posted: June 28, 2023
• Study Start: August 7, 2023
• Primary Completion (Estimated): August 7, 2026
• Study Completion (Estimated): August 7, 2026
• Last Updated: March 24, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will not share

Locations

FR (2)