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

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.

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Key information

Conditions

Focus of Study: Prevalence of Fabry Disease in CKD Population Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Cardiovascular Diseases Central Nervous System Diseases Cerebral Small Vessel Diseases Cerebrovascular Disorders Chronic Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease Attributes Fabry Disease Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Genetic Diseases, X-Linked Kidney Diseases Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Male Urogenital Diseases Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Renal Insufficiency Renal Insufficiency, Chronic Sphingolipidoses Urogenital Diseases Urologic Diseases Vascular Diseases

Age range

18 year–85 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Klinikum Wels-Grieskirchen

Wels, Upper Austria, A-4600, Austria

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Chronic kidney disease KDOQI stage 1-5
Informed consent

Exclusion criteria

Patients already on renal replacement therapy
Not willing to participate

Sponsors and collaborators

Lead sponsor

Klinikum Wels-Grieskirchen

Other

Collaborators

Genzyme, a Sanofi Company

Registry information

Official study title

A Case Finding Study for Anderson-Fabry Disease Among Patients With Chronic Kidney Disease Not on Renal Replacement Therapy

Important dates

Study start: 2008
Primary completion: 2011
Study completion: 2011
First posted: Aug 5, 2008
Registry last updated: Apr 12, 2012

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

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