NCT03886714

Screening for Fabry Disease in Renal Transplantation

• Status: Terminated
• Phase: —
• Study type: Observational
• Enrollment: 592 (actual)
• Sponsor: University Hospital, Montpellier · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Fabry Disease
• Nephropathy

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Screening for Fabry disease	Screening for the α-galactosidase (GAL) enzyme activity (men + women) and plasma Lyso globotriaosylsphingosine (GL3, women) for the diagnosis of Fabry disease.
DIAGNOSTIC_TEST	Screen for α-galactosidase mutation	If necessary (positive for GAL), genetic confirmation tests for Fabry disease will be performed (men + women).

Timeline

• Start date: 2019-03-25
• Primary completion: 2024-12-31
• Completion: 2025-04-10
• First posted: 2019-03-22
• Last updated: 2025-05-16

Locations

1 site across 1 country: France