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
1 other identifier
observational
4,353
1 country
1
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Oct 2008
Typical duration for all trials
1 active site
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
July 31, 2008
CompletedFirst Posted
Study publicly available on registry
August 5, 2008
CompletedStudy Start
First participant enrolled
October 1, 2008
CompletedPrimary Completion
Last participant's last visit for primary outcome
August 1, 2011
CompletedStudy Completion
Last participant's last visit for all outcomes
December 1, 2011
CompletedApril 12, 2012
April 1, 2012
2.8 years
July 31, 2008
April 10, 2012
Conditions
Keywords
Eligibility Criteria
Patients with chronic kidney disease KDOQI stage 1-5 attending outpatient nephrology clinics in Austria and willing to participate
You may qualify if:
- Chronic kidney disease KDOQI stage 1-5
- Informed consent
You may not qualify if:
- Patients already on renal replacement therapy
- Not willing to participate
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Klinikum Wels-Grieskirchenlead
- Genzyme, a Sanofi Companycollaborator
Study Sites (1)
Klinikum Wels-Grieskirchen
Wels, Upper Austria, A-4600, Austria
Related Publications (1)
Kotanko P, Kramar R, Devrnja D, Paschke E, Voigtlander 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, Fodinger M, Sunder-Plassmann G. Results of a nationwide screening for Anderson-Fabry disease among dialysis patients. J Am Soc Nephrol. 2004 May;15(5):1323-9. doi: 10.1097/01.asn.0000124671.61963.1e.
PMID: 15100373RESULT
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Manfred Wallner, MD
Klinikum Wels-Grieskirchen
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- CROSS SECTIONAL
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Consultant
Study Record Dates
First Submitted
July 31, 2008
First Posted
August 5, 2008
Study Start
October 1, 2008
Primary Completion
August 1, 2011
Study Completion
December 1, 2011
Last Updated
April 12, 2012
Record last verified: 2012-04