Study of Glycogen Storage Disease Expression in Carriers

Completed

• Conditions: Glycogen Storage Disease
• Interventions: Genetic: Glycogen Storage Disease markers

• Registration Number: NCT02057731
• Lead Sponsor: University of Florida

Brief 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.

Basic Information
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Recruitment & Eligibility
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Study & Design
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Trial Locations

Study Timeline

• Study Start: 2014-02
• Study First Submitted: 2014-02-05
• Study First Submitted QC: 2014-02-05
• Study First Posted: 2014-02-07
• Primary Completion: 2016-07
• Study Completion: 2016-07
• Status Verified: 2016-12
• Last Update Submitted: 2016-12-01
• Last Update Posted: 2016-12-02

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 114

Inclusion Criteria

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

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Exclusion Criteria

• pregnant females

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Noncarriers	Glycogen Storage Disease markers	Noncarriers of any type of GSD will have their blood and urine tested to measure markers of GSD. Their saliva will be tested to ensure their noncarrier status. A questionnaire will also be filled out.
0, VI, IX carriers	Glycogen Storage Disease markers	Carriers of GSD types 0, VI, and IX will have their blood and urine tested to measure markers of GSD. Their saliva will be tested to determine their specific mutation. A questionnaire will also be filled out.
Ib carriers	Glycogen Storage Disease markers	Carriers of GSD type Ib will have their blood and urine tested to measure markers of GSD. Their saliva will be tested to determine their specific mutation. A questionnaire will also be filled out.
Ia carriers	Glycogen Storage Disease markers	Carriers of GSD type Ia will have their blood and urine tested to measure markers of GSD. Their saliva will be tested to determine their specific mutation. A questionnaire will also be filled out.
III carriers	Glycogen Storage Disease markers	Carriers of GSD type III will have their blood and urine tested to measure markers of GSD. Their saliva will be tested to determine their specific mutation. A questionnaire will also be filled out.

Primary Outcome Measures

Name	Time	Method
Cholesterol level blood test	1 day	Blood test will be performed on all groups to measure markers of glycogen storage disease.

Secondary Outcome Measures

Name	Time	Method
Microalbumin level urine test	1 day	Urine test will be performed on all groups to measure markers of glycogen storage disease.
Uric acid level blood test	1 day	Blood test will be performed on all groups to measure markers of glycogen storage disease.
Creatine kinase (CK) level blood test	1 day	Blood test will be performed on all groups to measure markers of glycogen storage disease.
Comprehensive metabolic panel blood test	1 day	Blood test will be performed on all groups to measure markers of glycogen storage disease.
Lipid panel blood test	1 day	Blood test will be performed on all groups to measure markers of glycogen storage disease.
C-reactive protein (CRP) level blood test	1 day	Blood test will be performed on all groups to measure markers of glycogen storage disease.
Calcium level urine test	1 day	Urine test will be performed on all groups to measure markers of glycogen storage disease.
Citrate level urine test	1 day	Urine test will be performed on all groups to measure markers of glycogen storage disease.
Creatinine level urine test	1 day	Urine test will be performed on all groups to measure markers of glycogen storage disease.
Oxalate level urine test	1 day	Urine test will be performed on all groups to measure markers of glycogen storage disease.
Uric acid level urine test	1 day	Urine test will be performed on all groups to measure markers of glycogen storage disease.
Prealbumin blood test	1 day	Blood test will be performed on all groups to measure markers of glycogen storage disease.
Hemoglobin A1C blood test	1 day	Blood test will be performed on all groups to measure markers of glycogen storage disease.

Trial Locations

Locations (1)

University of Florida; 🇺🇸 Gainesville, Florida, United States