An observational study in Fabry Disease and Nephropathy, sponsored by University Hospital, Montpellier. Terminated at 1 site in France. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2025-05-16.
Sponsored by University Hospital, Montpellier · Observational
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.
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.
242 studies on the registry are indexed under Fabry Disease; 54 are open to participants now.
This study's enrollment of 592 is above the median of 100 across 123 observational studies indexed under Fabry Disease.
Browse Fabry Disease studies →University Hospital, Montpellier is the lead sponsor of 1,244 studies on the registry; 225 are open to participants now.
Counted across the registry records on this site, refreshed daily.
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.
Exclusion Criteria:
Screening for the α-galactosidase (GAL) enzyme activity (men + women) and plasma Lyso globotriaosylsphingosine (GL3, women) for the diagnosis of Fabry disease.
If necessary (positive for GAL), genetic confirmation tests for Fabry disease will be performed (men + women).
Number of Patients with Positive screen result
The genetic analysis will be performed based on the biochemical results (low enzyme activity, raised lysoGL3)
Time frame: Inclusion visit
Plan to share: No
No publications or documents are linked to this record.
This study is terminated, as verified in May 2025. You cannot join it, but the record below documents what was studied.
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University Hospital, Montpellier