Glycogen Storage Disease
Conditions
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.
Interventions
GENETICGlycogen 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.
Sponsors
University of Florida
Study design
Observational model
CASE_CONTROL
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to 100 Years
Healthy volunteers
No
Inclusion criteria
* parents and other family members of patients undergoing treatment for GSD at the University of Florida
Exclusion criteria
* pregnant females
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Cholesterol level blood test | 1 day | Blood test will be performed on all groups to measure markers of glycogen storage disease. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Lipid panel blood test | 1 day | Blood 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. |
| 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. |
| Comprehensive metabolic panel blood test | 1 day | Blood test will be performed on all groups to measure markers of glycogen storage disease. |
| Microalbumin 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. |
| Creatinine level urine test | 1 day | Urine test will be performed on all groups to measure markers of glycogen storage disease. |
Countries
United States
Outcome results
None listed