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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
Sponsor:
Information provided by (Responsible Party):
University Hospital, Montpellier

Brief 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.

Condition or disease Intervention/treatment
Fabry Disease Nephropathy Diagnostic Test: Screening for Fabry disease Diagnostic Test: Screen for α-galactosidase mutation

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.


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Study Type : Observational
Estimated Enrollment : 676 participants
Observational Model: Case-Only
Time Perspective: Prospective
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

Resource links provided by the National Library of Medicine



Intervention Details:
  • 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).


Primary Outcome Measures :
  1. Number of Patients with Positive screen result [ Time Frame: Inclusion visit ]

Biospecimen Retention:   Samples With DNA
Two 9 mL EDTA (ethylenediaminetetraacetic acid) blood samples


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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
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.
Criteria

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03886714


Contacts
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Contact: Moglie Le Quintrec, Pr 0467338456 m-lequintrec-donnette@chu-montpellier.fr

Locations
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France
Uh Montpellier Active, not recruiting
Montpellier, France, 34295
Sponsors and Collaborators
University Hospital, Montpellier

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Responsible Party: University Hospital, Montpellier
ClinicalTrials.gov Identifier: NCT03886714     History of Changes
Other Study ID Numbers: UF 7561
First Posted: March 22, 2019    Key Record Dates
Last Update Posted: March 25, 2019
Last Verified: March 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by University Hospital, Montpellier:
Fabry disease
Renal transplantation
Diabetic nephropathy
Focal Segmental Hyalinosis (FSH)
Undetermined nephropathy

Additional relevant MeSH terms:
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Fabry Disease
Kidney Diseases
Urologic Diseases
Sphingolipidoses
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Cerebral Small Vessel Diseases
Cerebrovascular Disorders
Vascular Diseases
Cardiovascular Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipidoses
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders