Viennese Prevalence Study of Anderson-Fabry Disease

Fabry Disease Clinical Trial

— VIEPAF  

Official title:

Prevalence of Anderson - Fabry Disease in Patients With Left Ventricular Hypertrophy

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT00871611
• Other study ID #: VIE190109
• Status: Active, not recruiting
• Phase: N/A
• First received: March 27, 2009
• Last updated: July 27, 2011
• Start date: January 2009
• Est. completion date: January 2012

Study information

• Verified date: July 2011
• Source: Medical University of Vienna
• Contact: n/a
• Is FDA regulated: No
• Health authority: Austria: Federal Ministry for Health Family and Youth
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 4000
• Est. completion date: January 2012
• Est. primary completion date: January 2012
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 18 Years to 90 Years

Eligibility

Inclusion Criteria:

• Patients with myocardial septum wall thickness = 12mm

Exclusion Criteria:

• Patients < 18 years

• Patients unable to provide urine sample

Study Design

Observational Model: Cohort, Time Perspective: Prospective

Related Conditions & MeSH terms

• Fabry Disease
• Hypertrophy
• Hypertrophy, Left Ventricular
• Left Ventricular Hypertrophy

Locations

Country	Name	City	State
Austria	Department of Internal Medicine II, Div. Cardiology, Vienna General Hospital	Vienna

Sponsors (2)

Lead Sponsor	Collaborator
Medical University of Vienna	Medical University of Graz

Country where clinical trial is conducted

Austria, 

References & Publications (4)

Fauler G, Rechberger GN, Devrnja D, Erwa W, Plecko B, Kotanko P, Breunig F, Paschke E. Rapid determination of urinary globotriaosylceramide isoform profiles by electrospray ionization mass spectrometry using stearoyl-d35-globotriaosylceramide as internal standard. Rapid Commun Mass Spectrom. 2005;19(11):1499-506. — View Citation

Linhart A, Kampmann C, Zamorano JL, Sunder-Plassmann G, Beck M, Mehta A, Elliott PM; European FOS Investigators. Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey. Eur Heart J. 2007 May;28(10):1228-35. Epub 2007 May 5. — View Citation

Monserrat L, Gimeno-Blanes JR, Marín F, Hermida-Prieto M, García-Honrubia A, Pérez I, Fernández X, de Nicolas R, de la Morena G, Payá E, Yagüe J, Egido J. Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2007 Dec 18;50(25):2399-403. — View Citation

Weidemann F, Breunig F. [Cardiac involvement in Fabry's disease]. Med Klin (Munich). 2008 Mar 15;103(3):161-5. doi: 10.1007/s00063-008-1023-1. Review. German. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Prevalence of Anderson - Fabry disease		2 years	No