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

Centre Hospitalier Universitaire de Nice

Status

Completed

Conditions

Fabry Disease

Treatments

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

Study type

Interventional

Funder types

Other

Identifiers

NCT01374997

10-PP-04

Details and patient eligibility

About

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.

Enrollment

6 patients

Sex

Male

Ages

18 to 60 years old

Volunteers

No 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).