Fabry Screening Study

NCT ID: NCT01019629

Last Updated: 2018-02-13

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 2724 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2009-01-29
• Study Completion Date: 2017-12-07

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

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

Conditions

Fabry Disease

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: OTHER

Eligibility 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

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

Baylor Research Institute

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Raphael Schiffmann, M.D., M.H.Sc.

Role: PRINCIPAL_INVESTIGATOR

Baylor Health Care System

Locations

Baylor Institute of Metabolic Disease

Dallas, Texas, United States

Countries

United States

References

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.

Reference Type: DERIVED

PMID: 24496231 (View on PubMed)

Other Identifiers

008-230

Identifier Type: -

Identifier Source: org_study_id