Viennese Prevalence Study of Anderson-Fabry Disease (VIEPAF)

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: NCT00871611
Recruitment Status : Unknown
Verified July 2011 by Medical University of Vienna.
Recruitment status was:  Active, not recruiting
First Posted : March 30, 2009
Last Update Posted : July 28, 2011
Medical University of Graz
Information provided by:
Medical University of Vienna

March 27, 2009
March 30, 2009
July 28, 2011
January 2009
January 2012   (Final data collection date for primary outcome measure)
Prevalence of Anderson - Fabry disease [ Time Frame: 2 years ]
Same as current
Complete list of historical versions of study NCT00871611 on Archive Site
Not Provided
Not Provided
Not Provided
Not Provided
Viennese Prevalence Study of Anderson-Fabry Disease
Prevalence of Anderson - Fabry Disease in Patients With Left Ventricular Hypertrophy
The prevalence of Anderson - Fabry disease in patients with left ventricular hypertrophy is unclear. The investigators will examine urine - α - Galactosidase activity and globotriaosylceramide isoforms in these patients.
Anderson - Fabry disease (AFD) is a rare, X - linked hereditary systemic lysosomal storage disorder which usually affects the heart. The reported incidence of AFD is between 1 in 117000 and 1 in 240000 live births. Due to a deficiency of the enzyme α - galactosidase, glycosphingo-lipids, primarily globotriaosylceramide, are stored also in endothelial and myocardial cells, leading to morphologic and functional changes. AFD-cardiomyopathy progresses with age and with the course of the disease, leading to reduced life expectancy. The investigators hypothesize, that AFD could be underdiagnosed in patients with only mild or moderate left ventricular myocardial hypertrophy. Early diagnosis of AFD may be relevant since affected patients might benefit from enzyme replacement therapy at early stage of disease. The investigators will examine 4000 consecutive patients with an echocardiographically measured interventricular septum thickness of ≥ 12mm. Urine samples will be collected and Gb3-isoforms, creatinine and α - Galactosidase activity will be measured.
Observational Model: Cohort
Time Perspective: Prospective
Not Provided
Retention:   Samples Without DNA
Probability Sample
Patients with left ventricular hypertrophy diagnosed by echocardiography
  • Fabry Disease
  • Left Ventricular Hypertrophy
Not Provided
Not Provided

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Unknown status
Same as current
January 2012
January 2012   (Final data collection date for primary outcome measure)

Inclusion Criteria:

  • Patients with myocardial septum wall thickness ≥ 12mm

Exclusion Criteria:

  • Patients < 18 years
  • Patients unable to provide urine sample
Sexes Eligible for Study: All
18 Years to 90 Years   (Adult, Older Adult)
Contact information is only displayed when the study is recruiting subjects
Not Provided
Not Provided
Mundigler, Medical University of Vienna
Medical University of Vienna
Medical University of Graz
Principal Investigator: Gerald Mundigler, MD Medical University of Vienna, Dept. Internal Medicine, Cardiology
Medical University of Vienna
July 2011