Viennese Prevalence Study of Anderson-Fabry Disease

NCT ID: NCT00871611

Last Updated: 2011-07-28

Basic Information

• Recruitment Status: UNKNOWN
• Total Enrollment: 4000 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2009-01-31
• Study Completion Date: 2012-01-31

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.

Conditions

Fabry Disease; Left Ventricular Hypertrophy

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Eligibility Criteria

Inclusion Criteria

• Patients with myocardial septum wall thickness ≥ 12mm

Exclusion Criteria

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

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 90 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Medical University of Graz

OTHER

Sponsor Role: collaborator

Medical University of Vienna

OTHER

Sponsor Role: lead

Responsible Party

Medical University of Vienna

Principal Investigators

Gerald Mundigler, MD

Role: PRINCIPAL_INVESTIGATOR

Medical University of Vienna, Dept. Internal Medicine, Cardiology

Locations

Department of Internal Medicine II, Div. Cardiology, Vienna General Hospital

Vienna, , Austria

Countries

Austria

References

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. German.

Reference Type: BACKGROUND

PMID: 18344066 (View on PubMed)

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. doi: 10.1093/eurheartj/ehm153. Epub 2007 May 5.

Reference Type: BACKGROUND

PMID: 17483538 (View on PubMed)

Monserrat L, Gimeno-Blanes JR, Marin F, Hermida-Prieto M, Garcia-Honrubia A, Perez I, Fernandez X, de Nicolas R, de la Morena G, Paya E, Yague 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. doi: 10.1016/j.jacc.2007.06.062.

Reference Type: BACKGROUND

PMID: 18154965 (View on PubMed)

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. doi: 10.1002/rcm.1948.

Reference Type: BACKGROUND

PMID: 15880667 (View on PubMed)

Other Identifiers

VIE190109

Identifier Type: -

Identifier Source: org_study_id