NCT02057731

Study of Glycogen Storage Disease Expression in Carriers

Characterizing Expression of Glycogen Storage Disease in Heterozygous Carriers

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 114 (actual)
• Sponsor: University of Florida · Academic / Other
• Sex: All
• Age: 18 Years – 100 Years
• Healthy volunteers: Not accepted

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.

Detailed description

Subjects will be asked to contribute about a teaspoon of blood, 1 oz of urine, and 2 tablespoons of saliva samples in the morning before they have had anything to eat. The blood and urine samples will be tested for the markers of GSD, while the saliva sample will be used for genetic testing. Subjects' height and weight will also be measured. Subjects will also be asked to fill out a questionnaire about symptoms common to full GSD expression that they may have experienced, as well as if they are currently on any medication to control their cholesterol.

Conditions

• Glycogen Storage Disease

Interventions

Type	Name	Description
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.

Timeline

• Start date: 2014-02-01
• Primary completion: 2016-07-01
• Completion: 2016-07-01
• First posted: 2014-02-07
• Last updated: 2016-12-02

Locations

1 site across 1 country: United States