Overview

This trial is active, not recruiting.

Condition fabry disease
Treatment micromethod from samples taken from blood spots on filter paper
Sponsor Centre Hospitalier Universitaire de Nice
Start date June 2011
End date March 2012
Trial size 380 participants
Trial identifier NCT01374997, 10-PP-04

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.

United States No locations recruiting
Other Countries No locations recruiting

Study Design

Intervention model single group assignment
Masking open label
Primary purpose diagnostic
Arm
(Other)
detection of this disease in end-stage renal failure patients, transplant or hemodialysis
micromethod from samples taken from blood spots on filter paper
a blood test to measure the level of alpha-galactosidase A activity by micromethod from samples taken from blood spots on filter paper

Primary Outcomes

Measure
Screening to detect of Fabry disease in chronic renal failure patients
time frame: 1 day

Eligibility Criteria

Male participants from 18 years up to 60 years old.

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).

Additional Information

Official title Screening Project for a Detection of Fabry Disease in Chronic Renal Failure Patients in Area PACA
Principal investigator Vincent ESNAULT, PU-PH
Trial information was received from ClinicalTrials.gov and was last updated in July 2011.
Information provided to ClinicalTrials.gov by Centre Hospitalier Universitaire de Nice.