Screening for Fabry Disease in Renal Transplantation (DEFYT)
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|ClinicalTrials.gov Identifier: NCT03886714|
Recruitment Status : Not yet recruiting
First Posted : March 22, 2019
Last Update Posted : March 25, 2019
|Condition or disease||Intervention/treatment|
|Fabry Disease Nephropathy||Diagnostic Test: Screening for Fabry disease Diagnostic Test: Screen for α-galactosidase mutation|
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|
|Estimated Enrollment :||676 participants|
|Official Title:||Screening for Fabry Disease in Renal Transplantation|
|Estimated Study Start Date :||March 15, 2019|
|Estimated Primary Completion Date :||March 15, 2021|
|Estimated Study Completion Date :||March 15, 2022|
- 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).
- Number of Patients with Positive screen result [ Time Frame: Inclusion visit ]
Biospecimen Retention: Samples With DNA
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03886714
|Contact: Moglie Le Quintrec, Prfirstname.lastname@example.org|
|Uh Montpellier||Active, not recruiting|
|Montpellier, France, 34295|