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

The recruitment status of this study is unknown because the information has not been verified recently.
Verified March 2011 by Centre Hospitalier Universitaire de Nice.
Recruitment status was  Active, not recruiting
Sponsor:
Information provided by:
Centre Hospitalier Universitaire de Nice
ClinicalTrials.gov Identifier:
NCT01374997
First received: June 3, 2011
Last updated: July 7, 2011
Last verified: March 2011
  Purpose

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.


Condition Intervention
Fabry Disease
Other: micromethod from samples taken from blood spots on filter paper

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Diagnostic
Official Title: Screening Project for a Detection of Fabry Disease in Chronic Renal Failure Patients in Area PACA

Resource links provided by NLM:


Further study details as provided by Centre Hospitalier Universitaire de Nice:

Primary Outcome Measures:
  • Screening to detect of Fabry disease in chronic renal failure patients [ Time Frame: 1 day ] [ Designated as safety issue: No ]
    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.


Estimated Enrollment: 380
Study Start Date: June 2011
Estimated Primary Completion Date: March 2012 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
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

  Eligibility

Ages Eligible for Study:   18 Years to 60 Years
Genders Eligible for Study:   Male
Accepts Healthy Volunteers:   No
Criteria

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).
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01374997

Locations
France
Service de Néphrologie - Hôpital Pasteur
Nice, France, 0600
Sponsors and Collaborators
Centre Hospitalier Universitaire de Nice
Investigators
Principal Investigator: Vincent ESNAULT, PU-PH CHU Nice
  More Information

No publications provided

Responsible Party: Département de la recherche clinique et de l'innovation, Centre Hospitalier Universitaire de Nice
ClinicalTrials.gov Identifier: NCT01374997     History of Changes
Other Study ID Numbers: 10-PP-04
Study First Received: June 3, 2011
Last Updated: July 7, 2011
Health Authority: France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)

Additional relevant MeSH terms:
Fabry Disease
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
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders
Kidney Diseases
Urologic Diseases
Kidney Failure, Chronic
Renal Insufficiency
Sphingolipidoses
Metabolism, Inborn Errors
Lipidoses
Lipid Metabolism, Inborn Errors
Renal Insufficiency, Chronic

ClinicalTrials.gov processed this record on August 21, 2014