Screening for Fabry Disease in Renal Transplantation

Terminated

• Conditions: Fabry Disease; Nephropathy

• Registration Number: NCT03886714
• Lead Sponsor: University Hospital, Montpellier

Brief 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.

Detailed 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.

Study Timeline

• Study First Submitted: 2019-03-20
• Study First Submitted QC: 2019-03-20
• Study First Posted: 2019-03-22
• Study Start: 2019-03-25
• Primary Completion: 2024-12-31
• Study Completion: 2025-04-10
• Status Verified: 2025-05
• Last Update Submitted: 2025-05-13
• Last Update Posted: 2025-05-16

Recruitment & Eligibility

• Status: TERMINATED
• Sex: All
• Target Recruitment: 592

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

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Number of Patients with Positive screen result	Inclusion visit	The genetic analysis will be performed based on the biochemical results (low enzyme activity, raised lysoGL3)

Trial Locations

Locations (1)

Uh Montpellier; 🇫🇷 Montpellier, France