University of Florida
Gainesville, Florida, 32608, United States
Completed
NCT Number: NCT02057731
Study of Glycogen Storage Disease Expression in 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.
Completed
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Notify MeKey information
Conditions
Age range
18 year–100 year
Sex eligibility
All sexes
Study type
Observational
Primary location
About this study
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.
Who can participate
Healthy volunteers accepted: No
Only the study team can determine whether someone qualifies for participation.
Inclusion criteria
- parents and other family members of patients undergoing treatment for GSD at the University of Florida
Exclusion criteria
- pregnant females
Treatment and study plan
Glycogen Storage Disease markers
GeneticBlood 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.
Primary outcomes
-
Cholesterol level blood test
Time frame: 1 day
Blood test will be performed on all groups to measure markers of glycogen storage disease.
Secondary outcomes
-
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.
Sponsors and collaborators
Lead sponsor
University of Florida
Other
Registry information
Official study title
Characterizing Expression of Glycogen Storage Disease in Heterozygous Carriers
Important dates
- Study start
- 2014
- Primary completion
- 2016
- Study completion
- 2016
- First posted
- Feb 7, 2014
- Registry last updated
- Dec 2, 2016
OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.
View the official ClinicalTrials.gov record (opens in a new tab)This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.
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