Screening for Fabry Disease in Renal Transplantation

  • participants needed
  • sponsor
    University Hospital, Montpellier
Updated on 5 July 2022


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.

Condition Fabry's Disease, Fabry Disease, Nephropathy, Nephropathy, Kidney Disease, Kidney Disease (Pediatric), Kidney Disease (Pediatric), Kidney Disease, Fabry Disease, renal disease, kidney diseases, kidney disorders, nephrologic disease, kidney disorder, disease, kidney
Treatment Screening for Fabry disease, Screen for α-galactosidase mutation
Clinical Study IdentifierNCT03886714
SponsorUniversity Hospital, Montpellier
Last Modified on5 July 2022

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