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Screening for Fabry Disease in Renal Transplantation (DEFYT)

University Hospital Center (CHU) logo

University Hospital Center (CHU)

Status

Terminated

Conditions

Nephropathy
Fabry Disease

Treatments

Diagnostic Test: Screen for α-galactosidase mutation
Diagnostic Test: Screening for Fabry disease

Study type

Observational

Funder types

Other

Identifiers

NCT03886714
UF 7561 (Other Identifier)
RECHMPL18_0015

Details and patient eligibility

About

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.

Full 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.

Enrollment

592 patients

Sex

All

Ages

18+ years old

Volunteers

No Healthy Volunteers

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

Trial contacts and locations

1

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Central trial contact

Moglie Le Quintrec, Pr

Data sourced from clinicaltrials.gov

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