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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
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

Study Type: Observational
Study Design: Observational Model: Cohort
Official Title: Expanded Screening for Fabry Trait

Resource links provided by NLM:

Further study details as provided by Baylor Research Institute:

Primary Outcome Measures:
  • 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

Estimated Enrollment: 5000
Study Start Date: August 2008
Estimated Study Completion Date: January 2019
Estimated Primary Completion Date: December 2018 (Final data collection date for primary outcome measure)
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

Ages Eligible for Study:   18 Years and older   (Adult, Senior)
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
  Contacts and Locations
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Please refer to this study by its identifier: NCT01019629

United States, Texas
Baylor Institute of Metabolic Disease
Dallas, Texas, United States, 75226
Sponsors and Collaborators
Baylor Research Institute
Principal Investigator: Raphael Schiffmann, M.D., M.H.Sc. Baylor Health Care System
  More Information

Publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: Baylor Research Institute Identifier: NCT01019629     History of Changes
Other Study ID Numbers: 008-230
Study First Received: November 23, 2009
Last Updated: January 12, 2016

Keywords provided by Baylor Research Institute:
Fabry, Fabry Disease, Alpha-galactosidase A deficiency, GLA gene, mutations

Additional relevant MeSH terms:
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 processed this record on August 18, 2017