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

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT00728364

Enrollment

4353

Registered

2008-08-05

Start date

2008-10-31

Completion date

2011-12-31

Last updated

2012-04-12

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Focus of Study: Prevalence of Fabry Disease in CKD Population

Keywords

Anderson Fabry disease, chronic kidney disease, prevalence

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

ALL

Age

18 Years to 85 Years

Healthy volunteers

Inclusion criteria

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

Exclusion criteria

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

Countries

Austria

Outcome results