Viennese Prevalence Study of Anderson-Fabry Disease
This trial is active, not recruiting.
|Conditions||fabry disease, left ventricular hypertrophy|
|Sponsor||Medical University of Vienna|
|Collaborator||Medical University of Graz|
|Start date||January 2009|
|End date||January 2012|
|Trial size||4000 participants|
|Trial identifier||NCT00871611, VIE190109|
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.
Prevalence of Anderson - Fabry disease
time frame: 2 years
Male or female participants from 18 years up to 90 years old.
Inclusion Criteria: - Patients with myocardial septum wall thickness ≥ 12mm Exclusion Criteria: - Patients < 18 years - Patients unable to provide urine sample
|Official title||Prevalence of Anderson - Fabry Disease in Patients With Left Ventricular Hypertrophy|
|Principal investigator||Gerald Mundigler, MD|
|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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