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Sponsors and Collaborators: |
Medical University of Vienna Medical University of Graz |
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Information provided by: | Medical University of Vienna |
ClinicalTrials.gov Identifier: | NCT00871611 |
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 |
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Fabry Disease Left Ventricular Hypertrophy |
Study Type: | Observational |
Study Design: | Cohort, Prospective |
Official Title: | Prevalence of Anderson - Fabry Disease in Patients With Left Ventricular Hypertrophy |
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. We 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. We 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 |
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
Sampling Method: | Probability Sample |
Patients with left ventricular hypertrophy diagnosed by echocardiography
Inclusion Criteria:
Exclusion Criteria:
Contact: Gerald Mundigler, MD | 0043 1 404000 ext 4614 | gerald.mundigler@meduniwien.ac.at |
Austria | |
Department of Internal Medicine II, Div. Cardiology, Vienna General Hospital | Recruiting |
Vienna, Austria, 1090 | |
Contact: Gerald Mundigler, MD 0043 1 40400 ext 4614 gerald.mundigler@meduniwien.ac.at |
Principal Investigator: | Gerald Mundigler, MD | Medical University of Vienna, Dept. Internal Medicine, Cardiology |
Responsible Party: | Medical University of Vienna ( Mundigler ) |
Study ID Numbers: | VIE190109 |
Study First Received: | March 27, 2009 |
Last Updated: | March 27, 2009 |
ClinicalTrials.gov Identifier: | NCT00871611 History of Changes |
Health Authority: | Austria: Federal Ministry for Health Family and Youth |
Hereditary Anderson-Fabry prevalence heart hypertrophy |
urine globotriaosylceramide isoforms α - Galactosidase |
Pathological Conditions, Anatomical Lipid Metabolism, Inborn Errors Hypertrophy, Left Ventricular Sphingolipidoses Heart Diseases Metabolic Diseases Lysosomal Storage Diseases Sphingolipidosis Central Nervous System Diseases Brain Diseases Metabolism, Inborn Errors |
Hypertrophy Genetic Diseases, Inborn Fabry Disease Genetic Diseases, X-Linked Ceramide Trihexosidosis Brain Diseases, Metabolic, Inborn Lipidoses Metabolic Disorder Cardiomegaly Lipid Metabolism Disorders Brain Diseases, Metabolic |
Pathological Conditions, Anatomical Lipid Metabolism, Inborn Errors Hypertrophy, Left Ventricular Sphingolipidoses Heart Diseases Metabolic Diseases Lysosomal Storage Diseases, Nervous System Lysosomal Storage Diseases Nervous System Diseases Central Nervous System Diseases Brain Diseases |
Metabolism, Inborn Errors Hypertrophy Genetic Diseases, Inborn Fabry Disease Genetic Diseases, X-Linked Cardiovascular Diseases Lipidoses Brain Diseases, Metabolic, Inborn Cardiomegaly Lipid Metabolism Disorders Brain Diseases, Metabolic |