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NCT03886714 Clinical Trial

Screening for Fabry Disease in Renal Transplantation

Fabry Disease Clinical Trial

— DEFYT  

Official title:
Screening for Fabry Disease in Renal Transplantation

Clinical Trial Details — Status: Recruiting

Administrative data
NCT number NCT03886714
Other study ID # RECHMPL18_0015
Secondary ID UF 7561
Status Recruiting
Phase
First received
Last updated
Start date March 25, 2019
Est. completion date March 31, 2026

Study information
Verified date August 2023
Source University Hospital, Montpellier
Contact Moglie Le Quintrec, Pr
Phone 0467338456
Email m-lequintrec-donnette@chu-montpellier.fr
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial Summary

Single centre, prospective pilot study examining the relevance to screen for Fabry disease in a cohort of patients who have undergone renal transplantation for nephropathy of indeterminate cause, vascular nephropathy, diabetic nephropathy or secondary focal segmental hyalinosis with no established cause.

Description:

Exploration whether Fabry disease cases can be identified among patients who are followed at the Montpellier University Hospital after renal transplantation, with indeterminate cause of renal failure or diabetic nephropathy (due to its high frequency) or secondary focal segmental hyalinosis (FSH). At the population level, the identification of cases at the Montpellier centre could then justify to expand this screening to other French centres. The goal is to contribute to adapt current guidelines of renal failure assessment, by systematically including Fabry among the diagnostic tests. Whether all patients with renal failure are concerned, or only those with indeterminate cause, is an important question this study will address.

Recruitment information / eligibility
Status Recruiting
Enrollment 676
Est. completion date March 31, 2026
Est. primary completion date December 31, 2025
Accepts healthy volunteers No
Gender All
Age group 18 Years and older
Eligibility Inclusion Criteria: - Nephropathy of indeterminate cause, or secondary FSH or diabetic nephropathy - Patients with kidney transplanted - Patients still followed at the Montpellier University Hospital - Obtaining written informed consent - Age > 18 years old, no upper age limit Exclusion Criteria: - N/A

Study Design

Related Conditions & MeSH terms

Intervention

Diagnostic Test:
• Screening for Fabry disease
Screening for the a-galactosidase (GAL) enzyme activity (men + women) and plasma Lyso globotriaosylsphingosine (GL3, women) for the diagnosis of Fabry disease.
• Screen for a-galactosidase mutation
If necessary (positive for GAL), genetic confirmation tests for Fabry disease will be performed (men + women).

Locations
Country Name City State
France Uh Montpellier Montpellier

Sponsors (1)
Lead Sponsor Collaborator
University Hospital, Montpellier

Country where clinical trial is conducted

France, 

Outcome
Type Measure Description Time frame Safety issue
Primary Number of Patients with Positive screen result The genetic analysis will be performed based on the biochemical results (low enzyme activity, raised lysoGL3) Inclusion visit
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