Study of Glycogen Storage Disease Expression in Carriers
NCT02057731 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 114
Last updated 2016-12-02
Summary
The purpose of the study is to determine whether carrier status for any type of glycogen storage disease (GSD) predisposes the carrier to GSD markers, like high cholesterol, by testing blood, urine, and saliva samples.
Conditions
- Glycogen Storage Disease
Interventions
- GENETIC
-
Glycogen Storage Disease markers
Blood and urine tests will be performed on all groups to measure markers of GSD. A saliva DNA test will be used to determine the specific mutation the carrier has or to ensure noncarrier status. A questionnaire will also be filled out.
Sponsors & Collaborators
-
University of Florida
lead OTHER
Principal Investigators
-
David A Weinstein, MD · University of Florida
Eligibility
- Min Age
- 18 Years
- Max Age
- 100 Years
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2014-02-28
- Primary Completion
- 2016-07-31
- Completion
- 2016-07-31
Countries
- United States
Study Locations
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