Viennese Prevalence Study of Anderson-Fabry Disease (VIEPAF)
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Purpose
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 |
|---|
|
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 |
- Prevalence of Anderson - Fabry disease [ Time Frame: 2 years ] [ Designated as safety issue: No ]
Biospecimen Retention: Samples Without DNA
Urine
| 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) |
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.
Eligibility| Ages Eligible for Study: | 18 Years to 90 Years |
| Genders Eligible for Study: | Both |
| Accepts Healthy Volunteers: | No |
| Sampling Method: | Probability Sample |
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| Austria | |
| Department of Internal Medicine II, Div. Cardiology, Vienna General Hospital | |
| Vienna, Austria, 1090 | |
| Principal Investigator: | Gerald Mundigler, MD | Medical University of Vienna, Dept. Internal Medicine, Cardiology |
More Information
Publications:
| Responsible Party: | Mundigler, Medical University of Vienna |
| ClinicalTrials.gov Identifier: | NCT00871611 History of Changes |
| Other Study ID Numbers: | VIE190109 |
| Study First Received: | March 27, 2009 |
| Last Updated: | July 27, 2011 |
| Health Authority: | Austria: Federal Ministry for Health Family and Youth |
Keywords provided by Medical University of Vienna:
|
Hereditary Anderson-Fabry prevalence heart hypertrophy |
urine globotriaosylceramide isoforms α - Galactosidase |
Additional relevant MeSH terms:
|
Fabry Disease Hypertrophy Hypertrophy, Left Ventricular Sphingolipidoses Lysosomal Storage Diseases, Nervous System Brain Diseases, Metabolic, Inborn Brain Diseases, Metabolic Brain Diseases Central Nervous System Diseases Nervous System Diseases Genetic Diseases, X-Linked |
Genetic Diseases, Inborn Metabolism, Inborn Errors Lipidoses Lipid Metabolism, Inborn Errors Lysosomal Storage Diseases Metabolic Diseases Lipid Metabolism Disorders Pathological Conditions, Anatomical Cardiomegaly Heart Diseases Cardiovascular Diseases |
ClinicalTrials.gov processed this record on May 23, 2013