Study of Glycogen Storage Disease Expression in Carriers



Status:Completed
Conditions:Endocrine
Therapuetic Areas:Endocrinology
Healthy:No
Age Range:18 - 100
Updated:12/3/2016
Start Date:February 2014
End Date:July 2016

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Trial Summary
Trial Overview
Inclusion Criteria

Characterizing Expression of Glycogen Storage Disease in Heterozygous Carriers

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.

Inclusion Criteria:

- parents and other family members of patients undergoing treatment for GSD at the
University of Florida

Exclusion Criteria:

- pregnant females
We found this trial at
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University of Florida
Gainesville, Florida 32610
(352) 392-3261
Phone: 352-273-5756
University of Florida The University of Florida (UF) is a major, public, comprehensive, land-grant, research...
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