End Stage Renal Disease Clinical Trial
Official title:
Study of the Prevalence of Fabry Disease in French Dialysis Patients
Fabry Disease (FD) is a rare genetic lysosomal storage disease including an X-linked
mutation and characterized by an alpha-galactosidase A (GLA) deficiency. It causes
globotriaosylceramide (GB3) accumulation within blood vessels, tissues and organs. This
accumulation leads to multisystemic deficiency, such as progressive kidney insufficiency.
Due to its low prevalence and non-specific symptoms, FD is under-diagnosed. Its estimated
incidence is ranged from 1/40,000 to 1/120,000 live births. A review of the international
literature suggests a higher prevalence among dialysis patients. Its diagnosis could lead to
an enzyme replacement therapy, in order to avoid the occurrence or aggravation of other
organs irreversible lesions, and to enhance the familial screening.
We aim to conduct a multicentric cross-sectional prevalence study in 5 areas
(Rhône-Alpes-Auvergne, Ile de France, Aquitaine, Picardie and department of Gard), involving
biologic collection and genetic diagnosis test. Our objective is to measure the prevalence
of FD among dialysis patients. Eligible patients will be included after signing the informed
consent.
In the five participating areas, all of the dialysis centers will be asked for involvement.
Nominative data of the French renal epidemiology and information network (REIN) registry
will enable first patients screening for eligibility among prevalent dialysis patients. If
needed (insufficient or absent data in the REIN registry), data will be completed with
medical files.
A blood drop will be collected during a hemodialysis session (or the monthly test for
peritoneal dialysis treated patients) and deposited on an anonymized blotting paper. For the
diagnosis of FD, men will have a measure of the alpha-galactosidase activity, whereas
screening in women will be established on the association of alpha-galactosidase activity
and lyso-GB3 analysis. If results are compatible with FD, genetic mutation will be search in
order to confirm the diagnosis for women, and, for all, to offer familial testing. Results
will be transmitted to the nephrologist within the next 2 to 9 weeks. Patients diagnosed
with FD will be managed in accordance with the guidelines of the French National Authority
for Health (F.N.A.H.).
n/a
Observational Model: Cohort, Time Perspective: Cross-Sectional
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