Fabry Screening Study

Fabry Disease Clinical Trial

Official title:

Expanded Screening for Fabry Trait

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01019629
• Other study ID #: 008-230
• Status: Completed
• Phase: N/A
• First received: November 23, 2009
• Last updated: February 12, 2018
• Start date: January 29, 2009
• Est. completion date: December 7, 2017

Study information

• Verified date: February 2018
• Source: Baylor Research Institute
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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

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

Recruitment information / eligibility

• Status: Completed
• Enrollment: 2724
• Est. completion date: December 7, 2017
• Est. primary completion date: April 17, 2013
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Fabry Disease

Locations

Country	Name	City	State
United States	Baylor Institute of Metabolic Disease	Dallas	Texas

Sponsors (1)

Lead Sponsor	Collaborator
Baylor Research Institute

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Identify GLA gene variants	Collect blood and urine sample one time only for analysis	Once