Screening for Fabry Disease in Renal Transplantation

NCT03886714 | Terminated

• 2 other identifiers: RECHMPL18_0015UF 7561
• Study Type: observational
• Target: 592
• Locations: 1 country
• Sites: 1

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.

Conditions

Fabry Disease; Nephropathy

Keywords

Fabry disease; Renal transplantation; Diabetic nephropathy; Focal Segmental Hyalinosis (FSH); Undetermined nephropathy

Outcome Measures

Primary Outcomes (1)

• Number of Patients with Positive screen result

  The genetic analysis will be performed based on the biochemical results (low enzyme activity, raised lysoGL3)

  Inclusion visit

Interventions

Screening for Fabry disease DIAGNOSTIC_TEST

Screening for the α-galactosidase (GAL) enzyme activity (men + women) and plasma Lyso globotriaosylsphingosine (GL3, women) for the diagnosis of Fabry disease.

Screen for α-galactosidase mutation DIAGNOSTIC_TEST

If necessary (positive for GAL), genetic confirmation tests for Fabry disease will be performed (men + women).

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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

You may not qualify if:

• N/A

Sponsors & Collaborators

• University Hospital, Montpellier: lead

Study Sites (1)

Uh Montpellier

Montpellier, 34295, France

Location

Biospecimen

Retention: SAMPLES WITH DNA

Two 9 mL EDTA (ethylenediaminetetraacetic acid) blood samples

MeSH Terms

Conditions

Fabry Disease; Kidney Diseases; Diabetic Nephropathies

Interventions

Mass Screening; Early Detection of Cancer

Condition Hierarchy (Ancestors)

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; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Diabetes Complications; Diabetes Mellitus; Endocrine System Diseases

Intervention Hierarchy (Ancestors)

Diagnostic Techniques and Procedures; Diagnosis; Health Surveys; Surveys and Questionnaires; Data Collection; Epidemiologic Methods; Investigative Techniques; Diagnostic Services; Preventive Health Services; Health Services; Health Care Facilities Workforce and Services; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health; Public Health Practice; Early Diagnosis

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 20, 2019
• First Posted: March 22, 2019
• Study Start: March 25, 2019
• Primary Completion: December 31, 2024
• Study Completion: April 10, 2025
• Last Updated: May 16, 2025

Record last verified: 2025-05

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)