Study of Glycogen Storage Disease Expression in Carriers

Status Completed

Clinical Trial 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.

Clinical Trial 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. ;

Study Design

Observational Model: Case Control, Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT02057731
Study type	Observational
Source	University of Florida
Contact
Status	Completed
Phase	N/A
Start date	February 2014
Completion date	July 2016

View Details

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