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

Primary Purpose

Fabry Disease

Status
Unknown status
Phase
Not Applicable
Locations
France
Study Type
Interventional
Intervention
micromethod from samples taken from blood spots on filter paper
Sponsored by
Centre Hospitalier Universitaire de Nice
About
Eligibility
Locations
Arms
Outcomes
Full info

About this trial

This is an interventional diagnostic trial for Fabry Disease

Eligibility Criteria

18 Years - 60 Years (Adult)MaleDoes not accept healthy volunteers

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).

Sites / Locations

  • Service de Néphrologie - Hôpital Pasteur

Arms of the Study

Arm 1

Arm Type

Other

Arm Label

patients with Fabry disease

Arm Description

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

Outcomes

Primary Outcome Measures

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.

Secondary Outcome Measures

Full Information

First Posted
June 3, 2011
Last Updated
July 7, 2011
Sponsor
Centre Hospitalier Universitaire de Nice
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1. Study Identification

Unique Protocol Identification Number
NCT01374997
Brief Title
Detection of Fabry Disease in Chronic Renal Failure Patients in Area Provence - Alpes - Côte d'Azur
Official Title
Screening Project for a Detection of Fabry Disease in Chronic Renal Failure Patients in Area PACA
Study Type
Interventional

2. Study Status

Record Verification Date
March 2011
Overall Recruitment Status
Unknown status
Study Start Date
June 2011 (undefined)
Primary Completion Date
March 2012 (Anticipated)
Study Completion Date
undefined (undefined)

3. Sponsor/Collaborators

Name of the Sponsor
Centre Hospitalier Universitaire de Nice

4. Oversight

5. Study Description

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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Fabry Disease

7. Study Design

Primary Purpose
Diagnostic
Study Phase
Not Applicable
Interventional Study Model
Single Group Assignment
Masking
None (Open Label)
Allocation
N/A
Enrollment
380 (Anticipated)

8. Arms, Groups, and Interventions

Arm Title
patients with Fabry disease
Arm Type
Other
Arm Description
detection of this disease in end-stage renal failure patients, transplant or hemodialysis
Intervention Type
Other
Intervention Name(s)
micromethod from samples taken from blood spots on filter paper
Intervention Description
a blood test to measure the level of alpha-galactosidase A activity by micromethod from samples taken from blood spots on filter paper
Primary Outcome Measure Information:
Title
Screening to detect of Fabry disease in chronic renal failure patients
Description
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.
Time Frame
1 day

10. Eligibility

Sex
Male
Minimum Age & Unit of Time
18 Years
Maximum Age & Unit of Time
60 Years
Accepts Healthy Volunteers
No
Eligibility 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).
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Vincent ESNAULT, PU-PH
Organizational Affiliation
CHU Nice
Official's Role
Principal Investigator
Facility Information:
Facility Name
Service de Néphrologie - Hôpital Pasteur
City
Nice
ZIP/Postal Code
0600
Country
France

12. IPD Sharing Statement

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

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