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Anderson-Fabry Disease in Chronic Kidney Disease Patients Not on Renal Replacement Therapy

NCT00728364 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 4353

Last updated 2012-04-12

No results posted yet for this study

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.

Conditions

  • Focus of Study: Prevalence of Fabry Disease in CKD Population

Sponsors & Collaborators

  • Genzyme, a Sanofi Company

    collaborator INDUSTRY

  • Klinikum Wels-Grieskirchen

    lead OTHER

Principal Investigators

  • Manfred Wallner, MD · Klinikum Wels-Grieskirchen

Eligibility

Min Age
18 Years
Max Age
85 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2008-10-31
Primary Completion
2011-08-31
Completion
2011-12-31

Countries

  • Austria

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00728364 on ClinicalTrials.gov