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

NCT ID: NCT00728364

Last Updated: 2012-04-12

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 4353 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2008-10-31
• Study Completion Date: 2011-12-31

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.

Conditions

Focus of Study: Prevalence of Fabry Disease in CKD Population

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: CROSS_SECTIONAL

Eligibility Criteria

Inclusion Criteria

• Chronic kidney disease KDOQI stage 1-5
• Informed consent

Exclusion Criteria

• Patients already on renal replacement therapy
• Not willing to participate

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 85 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Genzyme, a Sanofi Company

INDUSTRY

Sponsor Role: collaborator

Klinikum Wels-Grieskirchen

OTHER

Sponsor Role: lead

Responsible Party

Manfred Wallner MD

Consultant

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Manfred Wallner, MD

Role: PRINCIPAL_INVESTIGATOR

Klinikum Wels-Grieskirchen

Locations

Klinikum Wels-Grieskirchen

Wels, Upper Austria, Austria

Countries

Austria

References

Kotanko P, Kramar R, Devrnja D, Paschke E, Voigtlander T, Auinger M, Pagliardini S, Spada M, Demmelbauer K, Lorenz M, Hauser AC, Kofler HJ, Lhotta K, Neyer U, Pronai W, Wallner M, Wieser C, Wiesholzer M, Zodl H, Fodinger M, Sunder-Plassmann G. Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. J Am Soc Nephrol. 2004 May;15(5):1323-9. doi: 10.1097/01.asn.0000124671.61963.1e.

Reference Type: RESULT

PMID: 15100373 (View on PubMed)

Other Identifiers

AFD-CKD-Austria-2008

Identifier Type: -

Identifier Source: org_study_id