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Viennese Prevalence Study of Anderson-Fabry Disease (VIEPAF)

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified July 2011 by Medical University of Vienna.
Recruitment status was:  Active, not recruiting
Medical University of Graz
Information provided by:
Medical University of Vienna Identifier:
First received: March 27, 2009
Last updated: July 27, 2011
Last verified: July 2011
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.

Fabry Disease
Left Ventricular Hypertrophy

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Prevalence of Anderson - Fabry Disease in Patients With Left Ventricular Hypertrophy

Resource links provided by NLM:

Further study details as provided by Medical University of Vienna:

Primary Outcome Measures:
  • Prevalence of Anderson - Fabry disease [ Time Frame: 2 years ]

Biospecimen Retention:   Samples Without DNA

Estimated Enrollment: 4000
Study Start Date: January 2009
Estimated Study Completion Date: January 2012
Estimated Primary Completion Date: January 2012 (Final data collection date for primary outcome measure)
Detailed Description:
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.

Ages Eligible for Study:   18 Years to 90 Years   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Patients with left ventricular hypertrophy diagnosed by echocardiography

Inclusion Criteria:

  • Patients with myocardial septum wall thickness ≥ 12mm

Exclusion Criteria:

  • Patients < 18 years
  • Patients unable to provide urine sample
  Contacts and Locations
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Please refer to this study by its identifier: NCT00871611

Department of Internal Medicine II, Div. Cardiology, Vienna General Hospital
Vienna, Austria, 1090
Sponsors and Collaborators
Medical University of Vienna
Medical University of Graz
Principal Investigator: Gerald Mundigler, MD Medical University of Vienna, Dept. Internal Medicine, Cardiology
  More Information

Responsible Party: Mundigler, Medical University of Vienna Identifier: NCT00871611     History of Changes
Other Study ID Numbers: VIE190109
Study First Received: March 27, 2009
Last Updated: July 27, 2011

Keywords provided by Medical University of Vienna:
α - Galactosidase

Additional relevant MeSH terms:
Fabry Disease
Hypertrophy, Left Ventricular
Pathological Conditions, Anatomical
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Cerebral Small Vessel Diseases
Cerebrovascular Disorders
Vascular Diseases
Cardiovascular Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders
Heart Diseases processed this record on April 25, 2017