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

NCT01374997 | Completed

• 1 other identifier: 10-PP-04
• Study Type: interventional
• Target: 6
• Locations: 1 country
• Sites: 1

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.

Conditions

Fabry Disease

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (1)

patients with Fabry disease

OTHER

detection of this disease in end-stage renal failure patients, transplant or hemodialysis

Other: micromethod from samples taken from blood spots on filter paper

Interventions

micromethod from samples taken from blood spots on filter paper OTHER

a blood test to measure the level of alpha-galactosidase A activity by micromethod from samples taken from blood spots on filter paper

patients with Fabry disease

Eligibility Criteria

• Age: 18 Years - 60 Years
• Sex: male
• Healthy Volunteers: No
• Age Groups: Adult (18-64)

You may qualify if:

• 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,

You may not qualify if:

• 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).

Sponsors & Collaborators

• Centre Hospitalier Universitaire de Nice: lead

Study Sites (1)

Service de Néphrologie - Hôpital Pasteur

Nice, 0600, France

Location

MeSH Terms

Conditions

Fabry Disease

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

Study Officials

• Vincent ESNAULT, PU-PH

  CHU NICE

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 3, 2011
• First Posted: June 17, 2011
• Study Start: June 1, 2011
• Primary Completion: May 14, 2013
• Study Completion: May 14, 2013
• Last Updated: November 13, 2023

Record last verified: 2023-11

Locations

FR (1)