Anderson-Fabry Disease in Chronic Kidney Disease Patients Not on Renal Replacement Therapy
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|ClinicalTrials.gov Identifier: NCT00728364|
Recruitment Status : Completed
First Posted : August 5, 2008
Last Update Posted : April 12, 2012
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.
|Condition or disease|
|Focus of Study: Prevalence of Fabry Disease in CKD Population|
|Study Type :||Observational|
|Actual Enrollment :||4353 participants|
|Official Title:||A Case Finding Study for Anderson-Fabry Disease Among Patients With Chronic Kidney Disease Not on Renal Replacement Therapy|
|Study Start Date :||October 2008|
|Primary Completion Date :||August 2011|
|Study Completion Date :||December 2011|
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00728364
|Wels, Upper Austria, Austria, A-4600|
|Principal Investigator:||Manfred Wallner, MD||Klinikum Wels-Grieskirchen|