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Fabry Screening Study

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ClinicalTrials.gov Identifier: NCT01019629
Recruitment Status : Completed
First Posted : November 25, 2009
Last Update Posted : February 13, 2018
Sponsor:
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

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

U.S. FDA Resources




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


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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
Criteria

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 ClinicalTrials.gov identifier (NCT number): NCT01019629


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

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: Baylor Research Institute
ClinicalTrials.gov Identifier: NCT01019629     History of Changes
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:
Fabry Disease
Sphingolipidoses
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
Lipidoses
Lipid Metabolism, Inborn Errors
Lysosomal Storage Diseases
Metabolic Diseases
Lipid Metabolism Disorders