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

April 10, 2012 updated by: Manfred Wallner MD, Klinikum Wels-Grieskirchen

A Case Finding Study for Anderson-Fabry Disease Among Patients With Chronic Kidney Disease 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.

Study Overview

Status

Completed

Conditions

Study Type

Observational

Enrollment (Actual)

4353

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Austria
    • Upper Austria
      • Wels, Upper Austria, Austria, A-4600
        • Klinikum Wels-Grieskirchen

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years to 85 years (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

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

Description

Inclusion Criteria:

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

Exclusion Criteria:

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Klinikum Wels-Grieskirchen

Collaborators

Genzyme, a Sanofi Company

Investigators

  • Principal Investigator: Manfred Wallner, MD, Klinikum Wels-Grieskirchen

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

October 1, 2008

Primary Completion (Actual)

August 1, 2011

Study Completion (Actual)

December 1, 2011

Study Registration Dates

First Submitted

July 31, 2008

First Submitted That Met QC Criteria

July 31, 2008

First Posted (Estimate)

August 5, 2008

Study Record Updates

Last Update Posted (Estimate)

April 12, 2012

Last Update Submitted That Met QC Criteria

April 10, 2012

Last Verified

April 1, 2012

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • AFD-CKD-Austria-2008

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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