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

Study Overview

• Status: Completed
• Conditions: 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
• Enrollment (Actual): 2724

Contacts and Locations

Study Locations

• United States
  • Texas
    • Dallas, Texas, United States, 75226
      • Baylor Institute of Metabolic Disease

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

Patients with any type of cardiac diagnosis

Description

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

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Identify GLA gene variants	Collect blood and urine sample one time only for analysis	Once

Collaborators and Investigators

• Sponsor: Baylor Research Institute
• Investigators: Principal Investigator: Raphael Schiffmann, M.D., M.H.Sc., Baylor Health Care System

Publications and helpful links

General Publications

• 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.

Study record dates

Study Major Dates

• Study Start (Actual): January 29, 2009
• Primary Completion (Actual): April 17, 2013
• Study Completion (Actual): December 7, 2017

Study Registration Dates

• First Submitted: November 23, 2009
• First Submitted That Met QC Criteria: November 23, 2009
• First Posted (Estimate): November 25, 2009

Study Record Updates

• Last Update Posted (Actual): February 13, 2018
• Last Update Submitted That Met QC Criteria: February 12, 2018
• Last Verified: February 1, 2018

More Information

Terms related to this study

• Keywords: Fabry, Fabry Disease, Alpha-galactosidase A deficiency, GLA gene, mutations
• Additional Relevant MeSH Terms: Cardiovascular Diseases; Vascular Diseases; Metabolic Diseases; Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Lipid Metabolism Disorders; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Cerebral Small Vessel Diseases; Lipidoses; Lipid Metabolism, Inborn Errors; Fabry Disease
• Other Study ID Numbers: 008-230