T1 Mapping in Fabry Disease

NCT ID: NCT05923788

Last Updated: 2023-09-13

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

UNKNOWN

Clinical Phase

NA

Total Enrollment

70 participants

Study Classification

INTERVENTIONAL

Study Start Date

2023-08-07

Study Completion Date

2025-08-07

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Fabry Disease

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Allocation Method

NON_RANDOMIZED

Intervention Model

PARALLEL

Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Fabry disease

Group Type OTHER

T1 mapping measurement

Intervention Type DIAGNOSTIC_TEST

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

Patients undergoing renal functional exploration

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

Group Type OTHER

T1 mapping measurement

Intervention Type DIAGNOSTIC_TEST

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

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

T1 mapping measurement

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

Intervention Type DIAGNOSTIC_TEST

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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)
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

Hospices Civils de Lyon

OTHER

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Responsibility Role SPONSOR

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

Hopital Femme Mère Enfant

Bron, , France

Site Status NOT_YET_RECRUITING

Hopital Edouard Herriot

Lyon, , France

Site Status RECRUITING

Countries

Review the countries where the study has at least one active or historical site.

France

Central Contacts

Reach out to these primary contacts for questions about participation or study logistics.

SANDRINE LEMOINE, PU-PH

Role: CONTACT

04 72 11 02 44

Marine GIRERD

Role: CONTACT

0472110620

Facility Contacts

Find local site contact details for specific facilities participating in the trial.

Alain FOUILHOUX, PH

Role: primary

0472129539

Sandrine LEMOINE, PU-PH

Role: primary

04 72 11 02 44

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

2023-A00475-40

Identifier Type: OTHER

Identifier Source: secondary_id

69HCL22_0934

Identifier Type: -

Identifier Source: org_study_id

More Related Trials

Additional clinical trials that may be relevant based on similarity analysis.