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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

Brief Summary:
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.

Condition or disease
Fabry Disease Left Ventricular Hypertrophy

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.

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Study Type : Observational
Estimated Enrollment : 4000 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Prevalence of Anderson - Fabry Disease in Patients With Left Ventricular Hypertrophy
Study Start Date : January 2009
Estimated Primary Completion Date : January 2012
Estimated Study Completion Date : January 2012

Resource links provided by the National Library of Medicine

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

Biospecimen Retention:   Samples Without DNA

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 90 Years   (Adult, Older Adult)
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00871611

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

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Responsible Party: Mundigler, Medical University of Vienna Identifier: NCT00871611     History of Changes
Other Study ID Numbers: VIE190109
First Posted: March 30, 2009    Key Record Dates
Last Update Posted: July 28, 2011
Last Verified: July 2011

Keywords provided by Medical University of Vienna:
α - Galactosidase

Additional relevant MeSH terms:
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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