Study of Glycogen Storage Disease Expression in Carriers

N/ACompletedNCT02057731

University of Florida114 enrolled

Overview

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.

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.

Study Type

OBSERVATIONAL

Enrollment

114

Conditions

Glycogen Storage Disease

Interventions

Glycogen Storage Disease markersGENETIC

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.

Eligibility

Sex: ALLMin age: 18 YearsMax age: 100 Years

Medical Language ↔ Plain English

Inclusion Criteria: * parents and other family members of patients undergoing treatment for GSD at the University of Florida Exclusion Criteria: * pregnant females

Locations (1)

University of Florida

Gainesville, Florida, United States