Screening for Fabry Disease in Renal Transplantation (DEFYT)

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.

Study Overview

• Status: Terminated
• Conditions: Fabry Disease; Nephropathy
• Intervention / Treatment: Diagnostic test: Screening for Fabry disease; Diagnostic test: Screen for α-galactosidase mutation

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 Type: Observational
• Enrollment (Actual): 592

Contacts and Locations

Study Locations

• France
  • Montpellier, France, 34295
    • Uh Montpellier

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 14 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients identified from a database, who have undergone renal transplantation for nephropathy of indeterminate cause, vascular nephropathy, diabetic nephropathy or secondary focal segmental hyalinosis with no established cause, and still followed at the Montpellier University Hospital.

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Case-Only
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: University Hospital, Montpellier

Study record dates

Study Major Dates

• Study Start (Actual): March 25, 2019
• Primary Completion (Actual): December 31, 2024
• Study Completion (Actual): April 10, 2025

Study Registration Dates

• First Submitted: March 20, 2019
• First Submitted That Met QC Criteria: March 20, 2019
• First Posted (Actual): March 22, 2019

Study Record Updates

• Last Update Posted (Actual): May 16, 2025
• Last Update Submitted That Met QC Criteria: May 13, 2025
• Last Verified: May 1, 2025

More Information

Terms related to this study

• Keywords: Fabry disease; Renal transplantation; Diabetic nephropathy; Focal Segmental Hyalinosis (FSH); Undetermined nephropathy
• Additional Relevant MeSH Terms: Urogenital Diseases; Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Vascular Diseases; Cardiovascular Diseases; Male Urogenital Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; 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; Kidney Diseases; Fabry Disease
• Other Study ID Numbers: RECHMPL18_0015; UF 7561 (Other Identifier: Montpellier University Hospital)

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