Study of Glycogen Storage Disease Expression in Carriers

Study Overview
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Brief Summary
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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
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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.

Official Title
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Characterizing Expression of Glycogen Storage Disease in Heterozygous Carriers

Conditions
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Glycogen Storage Disease

Intervention / Treatment
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* Genetic: Glycogen Storage Disease markers


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: parents and other family members of patients undergoing treatment for GSD at the University of Florida Exclusion Criteria: pregnant females

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 100 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Ia carriers<br>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. | Genetic: Glycogen Storage Disease markers<br>* 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.<br>|
| Ib carriers<br>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<br>* 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.<br>|
| III carriers<br>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<br>* 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.<br>|
| 0, VI, IX carriers<br>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<br>* 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.<br>|
| Noncarriers<br>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<br>* 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.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Cholesterol level blood test | Blood test will be performed on all groups to measure markers of glycogen storage disease. | 1 day | 

Secondary Outcome Measures

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