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Fabry Screening Study

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01019629
Recruitment Status : Completed
First Posted : November 25, 2009
Last Update Posted : February 13, 2018
Information provided by (Responsible Party):
Baylor Research Institute

Brief Summary:
To determine if patients with a deficiency of alpha-galactosidase A are at-risk for cardiac complications that commonly occur in the general population

Condition or disease
Fabry Disease

Detailed Description:
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

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Study Type : Observational
Actual Enrollment : 2724 participants
Observational Model: Cohort
Time Perspective: Other
Official Title: Expanded Screening for Fabry Trait
Actual Study Start Date : January 29, 2009
Actual Primary Completion Date : April 17, 2013
Actual Study Completion Date : December 7, 2017

Resource links provided by the National Library of Medicine

Primary Outcome Measures :
  1. Identify GLA gene variants [ Time Frame: Once ]
    Collect blood and urine sample one time only for analysis

Biospecimen Retention:   Samples With DNA
Blood and Urine

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population
Patients with any type of cardiac diagnosis

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01019629

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United States, Texas
Baylor Institute of Metabolic Disease
Dallas, Texas, United States, 75226
Sponsors and Collaborators
Baylor Research Institute
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Principal Investigator: Raphael Schiffmann, M.D., M.H.Sc. Baylor Health Care System
Publications automatically indexed to this study by Identifier (NCT Number):
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Responsible Party: Baylor Research Institute Identifier: NCT01019629    
Other Study ID Numbers: 008-230
First Posted: November 25, 2009    Key Record Dates
Last Update Posted: February 13, 2018
Last Verified: February 2018
Keywords provided by Baylor Research Institute:
Fabry, Fabry Disease, Alpha-galactosidase A deficiency, GLA gene, mutations
Additional relevant MeSH terms:
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Fabry Disease
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Cerebral Small Vessel Diseases
Cerebrovascular Disorders
Vascular Diseases
Cardiovascular Diseases
Genetic Diseases, X-Linked
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders