Viennese Prevalence Study of Anderson-Fabry Disease (VIEPAF)

The recruitment status of this study is unknown because the information has not been verified recently.
Verified July 2011 by Medical University of Vienna.
Recruitment status was  Active, not recruiting
Sponsor:
Collaborator:
Medical University of Graz
Information provided by:
Medical University of Vienna
ClinicalTrials.gov Identifier:
NCT00871611
First received: March 27, 2009
Last updated: July 27, 2011
Last verified: July 2011

March 27, 2009
July 27, 2011
January 2009
January 2012   (final data collection date for primary outcome measure)
Prevalence of Anderson - Fabry disease [ Time Frame: 2 years ] [ Designated as safety issue: No ]
Same as current
Complete list of historical versions of study NCT00871611 on ClinicalTrials.gov Archive Site
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Viennese Prevalence Study of Anderson-Fabry Disease
Prevalence of Anderson - Fabry Disease in Patients With Left Ventricular Hypertrophy

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.

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.

Observational
Observational Model: Cohort
Time Perspective: Prospective
Not Provided
Retention:   Samples Without DNA
Description:

Urine

Probability Sample

Patients with left ventricular hypertrophy diagnosed by echocardiography

  • Fabry Disease
  • Left Ventricular Hypertrophy
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Active, not recruiting
4000
January 2012
January 2012   (final data collection date for primary outcome measure)

Inclusion Criteria:

  • Patients with myocardial septum wall thickness ≥ 12mm

Exclusion Criteria:

  • Patients < 18 years
  • Patients unable to provide urine sample
Both
18 Years to 90 Years
No
Contact information is only displayed when the study is recruiting subjects
Austria
 
NCT00871611
VIE190109
No
Mundigler, Medical University of Vienna
Medical University of Vienna
Medical University of Graz
Principal Investigator: Gerald Mundigler, MD Medical University of Vienna, Dept. Internal Medicine, Cardiology
Medical University of Vienna
July 2011

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP