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Clinical Trial Details — Status: Active, not recruiting

Administrative data

NCT number NCT00871611
Other study ID # VIE190109
Secondary ID
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


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
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