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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00728364
Recruitment Status : Completed
First Posted : August 5, 2008
Last Update Posted : April 12, 2012
Genzyme, a Sanofi Company
Information provided by (Responsible Party):
Manfred Wallner MD, Klinikum Wels-Grieskirchen

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.

Condition or disease
Focus of Study: Prevalence of Fabry Disease in CKD Population

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Study Type : Observational
Actual Enrollment : 4353 participants
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
Study Start Date : October 2008
Actual Primary Completion Date : August 2011
Actual Study Completion Date : December 2011

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Kidney Diseases

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 85 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
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

Inclusion Criteria:

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

Exclusion Criteria:

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

Information from the National Library of Medicine

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 identifier (NCT number): NCT00728364

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Klinikum Wels-Grieskirchen
Wels, Upper Austria, Austria, A-4600
Sponsors and Collaborators
Klinikum Wels-Grieskirchen
Genzyme, a Sanofi Company
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Principal Investigator: Manfred Wallner, MD Klinikum Wels-Grieskirchen

Publications of Results:
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Responsible Party: Manfred Wallner MD, Consultant, Klinikum Wels-Grieskirchen Identifier: NCT00728364     History of Changes
Other Study ID Numbers: AFD-CKD-Austria-2008
First Posted: August 5, 2008    Key Record Dates
Last Update Posted: April 12, 2012
Last Verified: April 2012

Keywords provided by Manfred Wallner MD, Klinikum Wels-Grieskirchen:
Anderson Fabry disease
chronic kidney disease

Additional relevant MeSH terms:
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Fabry Disease
Kidney Diseases
Renal Insufficiency, Chronic
Urologic Diseases
Renal Insufficiency
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Cerebral Small Vessel Diseases
Cerebrovascular Disorders
Vascular Diseases
Cardiovascular Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders