Study of Glycogen Storage Disease Expression in Carriers
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ClinicalTrials.gov Identifier: NCT02057731 |
Recruitment Status :
Completed
First Posted : February 7, 2014
Last Update Posted : December 2, 2016
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Condition or disease | Intervention/treatment |
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Glycogen Storage Disease | Genetic: Glycogen Storage Disease markers |
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 |
Actual Enrollment : | 114 participants |
Observational Model: | Case-Control |
Time Perspective: | Cross-Sectional |
Official Title: | Characterizing Expression of Glycogen Storage Disease in Heterozygous Carriers |
Study Start Date : | February 2014 |
Actual Primary Completion Date : | July 2016 |
Actual Study Completion Date : | July 2016 |

Group/Cohort | Intervention/treatment |
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Ia carriers
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.
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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. |
Ib carriers
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.
|
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. |
III carriers
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.
|
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. |
0, VI, IX carriers
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.
|
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. |
Noncarriers
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.
|
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. |
- Cholesterol level blood test [ Time Frame: 1 day ]Blood test will be performed on all groups to measure markers of glycogen storage disease.
- Comprehensive metabolic panel blood test [ Time Frame: 1 day ]Blood test will be performed on all groups to measure markers of glycogen storage disease.
- Lipid panel blood test [ Time Frame: 1 day ]Blood test will be performed on all groups to measure markers of glycogen storage disease.
- Uric acid level blood test [ Time Frame: 1 day ]Blood test will be performed on all groups to measure markers of glycogen storage disease.
- Creatine kinase (CK) level blood test [ Time Frame: 1 day ]Blood test will be performed on all groups to measure markers of glycogen storage disease.
- C-reactive protein (CRP) level blood test [ Time Frame: 1 day ]Blood test will be performed on all groups to measure markers of glycogen storage disease.
- Calcium level urine test [ Time Frame: 1 day ]Urine test will be performed on all groups to measure markers of glycogen storage disease.
- Citrate level urine test [ Time Frame: 1 day ]Urine test will be performed on all groups to measure markers of glycogen storage disease.
- Creatinine level urine test [ Time Frame: 1 day ]Urine test will be performed on all groups to measure markers of glycogen storage disease.
- Microalbumin level urine test [ Time Frame: 1 day ]Urine test will be performed on all groups to measure markers of glycogen storage disease.
- Oxalate level urine test [ Time Frame: 1 day ]Urine test will be performed on all groups to measure markers of glycogen storage disease.
- Uric acid level urine test [ Time Frame: 1 day ]Urine test will be performed on all groups to measure markers of glycogen storage disease.
- Prealbumin blood test [ Time Frame: 1 day ]Blood test will be performed on all groups to measure markers of glycogen storage disease.
- Hemoglobin A1C blood test [ Time Frame: 1 day ]Blood test will be performed on all groups to measure markers of glycogen storage disease.

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Ages Eligible for Study: | 18 Years to 100 Years (Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
Inclusion Criteria:
- parents and other family members of patients undergoing treatment for GSD at the University of Florida
Exclusion Criteria:
- pregnant females

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02057731
United States, Florida | |
University of Florida | |
Gainesville, Florida, United States, 32608 |
Principal Investigator: | David A Weinstein, MD | University of Florida |
Responsible Party: | University of Florida |
ClinicalTrials.gov Identifier: | NCT02057731 |
Other Study ID Numbers: |
IRB201300688 |
First Posted: | February 7, 2014 Key Record Dates |
Last Update Posted: | December 2, 2016 |
Last Verified: | December 2016 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | Undecided |
Glycogen Storage Disease Metabolic Diseases Carbohydrate Metabolism, Inborn Errors Metabolism, Inborn Errors Genetic Diseases, Inborn |