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

Screening Project for a Detection of Fabry Disease in Chronic Renal Failure Patients in Area PACA

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.

Study Overview

• Status: Unknown
• Conditions: Fabry Disease
• Intervention / Treatment: Other: micromethod from samples taken from blood spots on filter paper

• Study Type: Interventional
• Enrollment (Anticipated): 380
• Phase: Not Applicable

Contacts and Locations

Study Locations

• France
  • Nice, France, 0600
    • Service de Néphrologie - Hôpital Pasteur

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 60 years (Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: Male

Description

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 Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: patients with Fabry disease; detection of this disease in end-stage renal failure patients, transplant or hemodialysis	Other: 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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Screening to detect of Fabry disease in chronic renal failure patients	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.	1 day

Collaborators and Investigators

• Sponsor: Centre Hospitalier Universitaire de Nice
• Investigators: Principal Investigator: Vincent ESNAULT, PU-PH, CHU Nice

Study record dates

Study Major Dates

• Study Start: June 1, 2011
• Primary Completion (Anticipated): March 1, 2012

Study Registration Dates

• First Submitted: June 3, 2011
• First Submitted That Met QC Criteria: June 16, 2011
• First Posted (Estimate): June 17, 2011

Study Record Updates

• Last Update Posted (Estimate): July 8, 2011
• Last Update Submitted That Met QC Criteria: July 7, 2011
• Last Verified: March 1, 2011

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Cardiovascular Diseases; Vascular Diseases; Metabolic Diseases; Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Kidney Diseases; Urologic Diseases; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Renal Insufficiency, Chronic; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Lipid Metabolism Disorders; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Cerebral Small Vessel Diseases; Lipidoses; Lipid Metabolism, Inborn Errors; Kidney Failure, Chronic; Renal Insufficiency; Fabry Disease
• Other Study ID Numbers: 10-PP-04