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

Fabry Disease Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01374997
• Other study ID #: 10-PP-04
• Status: Completed
• Phase: N/A
• Start date: June 2011
• Est. completion date: May 14, 2013

Study information

• Verified date: November 2023
• Source: Centre Hospitalier Universitaire de Nice
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 6
• Est. completion date: May 14, 2013
• Est. primary completion date: May 14, 2013
• Accepts healthy volunteers: No
• Gender: Male
• Age group: 18 Years to 60 Years

Eligibility

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).

Related Conditions & MeSH terms

• Fabry Disease
• Kidney Failure, Chronic
• Renal Insufficiency

Intervention

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

Locations

Country	Name	City	State
France	Service de Néphrologie - Hôpital Pasteur	Nice

Sponsors (1)

Lead Sponsor	Collaborator
Centre Hospitalier Universitaire de Nice

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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