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

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00728364
• Other study ID #: AFD-CKD-Austria-2008
• Status: Completed
• Phase: N/A
• First received: July 31, 2008
• Last updated: April 10, 2012
• Start date: October 2008
• Est. completion date: December 2011

Study information

• Verified date: April 2012
• Source: Klinikum Wels-Grieskirchen
• Contact: n/a
• Is FDA regulated: No
• Health authority: Austria: Federal Ministry for Health Family and Youth
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 4353
• Est. completion date: December 2011
• Est. primary completion date: August 2011
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 18 Years to 85 Years

Eligibility

Inclusion Criteria:

• Chronic kidney disease KDOQI stage 1-5

• Informed consent

Exclusion Criteria:

• Patients already on renal replacement therapy

• Not willing to participate

Study Design

Observational Model: Cohort, Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

• Fabry Disease
• Focus of Study: Prevalence of Fabry Disease in CKD Population
• Kidney Diseases
• Renal Insufficiency, Chronic

Locations

Country	Name	City	State
Austria	Klinikum Wels-Grieskirchen	Wels	Upper Austria

Sponsors (2)

Lead Sponsor	Collaborator
Klinikum Wels-Grieskirchen	Genzyme, a Sanofi Company

Country where clinical trial is conducted

Austria, 

References & Publications (1)

Kotanko P, Kramar R, Devrnja D, Paschke E, Voigtländer 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, Födinger M, Sunder-Plassmann G. Results of — View Citation