Detection of Fabry Disease in Chronic Renal Failure Patients in Area Provence - Alpes - Côte d'Azur

Not Applicable

Completed

• Conditions: Fabry Disease
• Interventions: Other: micromethod from samples taken from blood spots on filter paper

• Registration Number: NCT01374997
• Lead Sponsor: Centre Hospitalier Universitaire de Nice

Brief Summary

Fabry disease is a rare genetic disease characterized by an enzyme deficiency, called alpha-galactosidase A, which normally breaks down a lipid, is missing or does not function properly. As a result, the lipid accumulates in the body, this leads to multisystem impairment, including progressive renal failure.

Several studies have focused on the detection of this disease in end-stage renal failure patients, transplant or hemodialysis.

This study aims to diagnose the Fabry patients earlier, among men aged 18-60 years with a glomerular filtration rate estimated by MDRD between 60 and 15 ml/min/1, 73m2, or between 90 and 60 ml/min/1, 73m2 in association with proteinuria greater than 0.3 g / g or creatinine level greater than 0,5 g/l.

This screening will be conducted by a blood test to measure the level of alpha-galactosidase A activity by micromethod from samples taken from blood spots on filter paper. If this assay was positive, confirmation of diagnosis of Fabry disease will done the standard method: macrodosage of leukocytic alpha-galactosidase A activity.

This multicenter prospective study, openly contacted in medical practice, with patient follow-up corresponding to the management of renal insufficiency, will be offered to all departments of nephrology and dialysis for adults in the Provence - Alpes - Côte d'Azur.

The objective of this study is to assess the prevalence of Fabry disease in the target population and to identify previously undiagnosed patients, enabling them to benefit from appropriate management of their disease, including whether need enzyme replacement therapy.

Detailed Description

Not available

Study Timeline

• Study Start: 2011-06
• Study First Submitted: 2011-06-03
• Study First Submitted QC: 2011-06-16
• Study First Posted: 2011-06-17
• Primary Completion: 2013-05-14
• Study Completion: 2013-05-14
• Status Verified: 2023-11
• Last Update Submitted: 2023-11-09
• Last Update Posted: 2023-11-13

Recruitment & Eligibility

• Status: COMPLETED
• Sex: Male
• Target Recruitment: 6

Inclusion Criteria

• Men aged 18 to 60 years
• Glomerular filtration rate estimated by MDRD between 60 and 15 ml/min/1, 73m2, or between 90 and 60 ml/min/1,73m2 in association with proteinuria greater than 0.3 g/g creatinine or 0.5 g/l
• Patient able to understand the benefits and risks of the study
• Written Consent, informed, signed
• Patients insured under Social Security,

Exclusion Criteria

• Patients with a confirmed diagnosis of Fabry disease
• Patients belonging to a family in which a diagnosis of Fabry disease was confirmed
• Patients protected by law (under guardianship).

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
patients with Fabry disease	micromethod from samples taken from blood spots on filter paper	detection of this disease in end-stage renal failure patients, transplant or hemodialysis

Primary Outcome Measures

Name	Time	Method
Screening to detect of Fabry disease in chronic renal failure patients	1 day	Screening will be conducted by a blood test to measure the level of alpha-galactosidase A activity by micromethod from samples taken from blood spots on filter paper. If this assay was positive, confirmation of diagnosis of Fabry disease will done the standard method: macrodosage of leukocytic alpha-galactosidase A activity.

Trial Locations

Locations (1)

Service de Néphrologie - Hôpital Pasteur; 🇫🇷 Nice, France