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Fabry Screening Study

This study has suspended participant recruitment.
(Analysing current study samples)
Information provided by (Responsible Party):
Baylor Research Institute Identifier:
First received: November 23, 2009
Last updated: January 12, 2016
Last verified: January 2016
November 23, 2009
January 12, 2016
August 2008
December 2018   (Final data collection date for primary outcome measure)
Identify GLA gene variants [ Time Frame: Once ]
Collect blood and urine sample one time only for analysis
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Complete list of historical versions of study NCT01019629 on Archive Site
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Fabry Screening Study
Expanded Screening for Fabry Trait
To determine if patients with a deficiency of alpha-galactosidase A are at-risk for cardiac complications that commonly occur in the general population
Fabry disease is an X-linked deficiency of alpha-galactosidase A resulting primarily in an accumulation of globotriaosylceramide (Gb3) in virtually all organs and systems. The main complications of Fabry disease are a 20-fold increased risk of ischemic stroke, cardiac disease including cardiomyopathy, atrio-ventricular conduction defects, a wide variety of arrhythmias, valvular dysfunction (insufficiency or stenosis) and cardiac vascular disease as well as progressive renal failure. Fabry disease cannot be easily diagnosed in patients with routine EKGs, echocardiograms or MRIs. Screening non-selected at-risk populations of patients with ischemic stroke or cardiac disease for urinary Gb3, alpha-galactosidase A activity and GLA gene mutations should enable the identification of patients previously undiagnosed with Fabry disease among the general population of patients with heart disease and stroke
Observational Model: Cohort
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Retention:   Samples With DNA
Blood and Urine
Probability Sample
Patients with any type of cardiac diagnosis
Fabry Disease
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Schiffmann R, Forni S, Swift C, Brignol N, Wu X, Lockhart DJ, Blankenship D, Wang X, Grayburn PA, Taylor MR, Lowes BD, Fuller M, Benjamin ER, Sweetman L. Risk of death in heart disease is associated with elevated urinary globotriaosylceramide. J Am Heart Assoc. 2014 Feb 4;3(1):e000394. doi: 10.1161/JAHA.113.000394.

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
January 2019
December 2018   (Final data collection date for primary outcome measure)

Inclusion Criteria:

  • Any diagnosis of heart disease.
  • Male or Female
  • Able to donate 12 cc of whole blood and 10 cc of urine

Exclusion Criteria:

  • No diagnosis of cardiac disease.
  • Unable to donate 12 cc of whole blood and/or 10 cc of urine
Sexes Eligible for Study: All
18 Years and older   (Adult, Senior)
Contact information is only displayed when the study is recruiting subjects
United States
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Baylor Research Institute
Baylor Research Institute
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Principal Investigator: Raphael Schiffmann, M.D., M.H.Sc. Baylor Health Care System
Baylor Research Institute
January 2016

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