Focus of Study: Prevalence of Fabry Disease in CKD Population Clinical Trial
Official title:
A Case Finding Study for Anderson-Fabry Disease Among Patients With Chronic Kidney Disease Not on Renal Replacement Therapy
Anderson-Fabry disease is a rare X-linked lysosomal storage disorder due to the deficiency
of alfa-galactosidase A (AGAL). The subsequent accumulation of glycosphingolipids may lead
to to cardiac, renal, and central nervous system impairment as well as premature death.
Recently published studies suggest that the true incidence of the disease may be
underestimated in certain risk groups, e.g. in patients with chronic kidney disease (CKD).
Therefore, the investigators initiated a multicenter case-finding study in Austria by
screening patients with chronic kidney disease not yet on renal replacement therapy.
Molecular isoforms of globotriaosylceramide (Gb3), characterized by different chain lengths
of their N-acyl residues, will be determined in a urine sample. Characteristic parameters,
including the ratio of C24/C18 isoforms will be used for identifying patients liable to have
the disease. A positive result will be confirmed by biochemical and genetic testing.
A sample size of 5.000 chronic kidney disease patients is envisaged allowing for detection
of 1 to 25 patients with Anderson-Fabry disease.
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Observational Model: Cohort, Time Perspective: Cross-Sectional