Fabry Screening Study
| Status: | Completed |
|---|---|
| Conditions: | Hematology, Metabolic |
| Therapuetic Areas: | Hematology, Pharmacology / Toxicology |
| Healthy: | No |
| Age Range: | 18 - Any |
| Updated: | 2/15/2018 |
| Start Date: | January 29, 2009 |
| End Date: | December 7, 2017 |
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
complications that commonly occur in the general population
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
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
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
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