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

This study has been completed.
Sponsor:
Collaborator:
Genzyme
Information provided by (Responsible Party):
Manfred Wallner MD, Klinikum Wels-Grieskirchen
ClinicalTrials.gov Identifier:
NCT00728364
First received: July 31, 2008
Last updated: April 10, 2012
Last verified: April 2012
History of Changes
  Purpose

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
Focus of Study: Prevalence of Fabry Disease in CKD Population

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Cross-Sectional
Official Title: A Case Finding Study for Anderson-Fabry Disease Among Patients With Chronic Kidney Disease Not on Renal Replacement Therapy

Resource links provided by NLM:

U.S. FDA Resources

Further study details as provided by Klinikum Wels-Grieskirchen:

Enrollment: 4353
Study Start Date: October 2008
Study Completion Date: December 2011
Primary Completion Date: August 2011 (Final data collection date for primary outcome measure)
  Eligibility

Ages Eligible for Study:   18 Years to 85 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Patients with chronic kidney disease KDOQI stage 1-5 attending outpatient nephrology clinics in Austria and willing to participate

Criteria

Inclusion Criteria:

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

Exclusion Criteria:

  • Patients already on renal replacement therapy
  • Not willing to participate
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT00728364

Locations
Austria
Klinikum Wels-Grieskirchen
Wels, Upper Austria, Austria, A-4600
Sponsors and Collaborators
Klinikum Wels-Grieskirchen
Genzyme
Investigators
Principal Investigator: Manfred Wallner, MD Klinikum Wels-Grieskirchen
  More Information

Publications:

Responsible Party: Manfred Wallner MD, Consultant, Klinikum Wels-Grieskirchen
ClinicalTrials.gov Identifier: NCT00728364     History of Changes
Other Study ID Numbers: AFD-CKD-Austria-2008
Study First Received: July 31, 2008
Last Updated: April 10, 2012
Health Authority: Austria: Federal Ministry for Health Family and Youth

Keywords provided by Klinikum Wels-Grieskirchen:
Anderson Fabry disease
chronic kidney disease
prevalence

Additional relevant MeSH terms:
Fabry Disease
Kidney Diseases
Renal Insufficiency, Chronic
Kidney Failure, Chronic
Sphingolipidoses
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
 Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipidoses
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders
Urologic Diseases
Renal Insufficiency

ClinicalTrials.gov processed this record on May 22, 2013