Viennese Prevalence Study of Anderson-Fabry Disease

• Conditions: Fabry Disease; Left Ventricular Hypertrophy

• Registration Number: NCT00871611
• Lead Sponsor: 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.

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.

Study Timeline

• Study Start: 2009-01
• Study First Submitted: 2009-03-27
• Study First Submitted QC: 2009-03-27
• Study First Posted: 2009-03-30
• Status Verified: 2011-07
• Last Update Submitted: 2011-07-27
• Last Update Posted: 2011-07-28
• Primary Completion: 2012-01
• Study Completion: 2012-01

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 4000

Inclusion Criteria

• Patients with myocardial septum wall thickness ≥ 12mm

Exclusion Criteria

• Patients < 18 years
• Patients unable to provide urine sample

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Prevalence of Anderson - Fabry disease	2 years

Trial Locations

Locations (1)

Department of Internal Medicine II, Div. Cardiology, Vienna General Hospital; 🇦🇹 Vienna, Austria