Anderson-Fabry Disease in Chronic Kidney Disease Patients Not on Renal Replacement Therapy
- Conditions
- Focus of Study: Prevalence of Fabry Disease in CKD Population
- Registration Number
- NCT00728364
- Lead Sponsor
- Klinikum Wels-Grieskirchen
- Brief Summary
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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 4353
- Chronic kidney disease KDOQI stage 1-5
- Informed consent
- Patients already on renal replacement therapy
- Not willing to participate
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
Klinikum Wels-Grieskirchen
🇦🇹Wels, Upper Austria, Austria
Klinikum Wels-Grieskirchen🇦🇹Wels, Upper Austria, Austria