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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
Sponsor:
Information provided by (Responsible Party):

Study Description
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.

Condition or disease Intervention/treatment
Glycogen Storage Disease Genetic: Glycogen Storage Disease markers

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.


Study Design

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
Primary Completion Date : July 2016
Study Completion Date : July 2016

Resource links provided by the National Library of Medicine

U.S. FDA Resources

Groups and Cohorts

Group/Cohort Intervention/treatment
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.
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.


Outcome Measures

Primary Outcome Measures :
  1. Cholesterol level blood test [ Time Frame: 1 day ]
    Blood test will be performed on all groups to measure markers of glycogen storage disease.


Secondary Outcome Measures :
  1. Comprehensive metabolic panel blood test [ Time Frame: 1 day ]
    Blood test will be performed on all groups to measure markers of glycogen storage disease.

  2. Lipid panel blood test [ Time Frame: 1 day ]
    Blood test will be performed on all groups to measure markers of glycogen storage disease.

  3. Uric acid level blood test [ Time Frame: 1 day ]
    Blood test will be performed on all groups to measure markers of glycogen storage disease.

  4. 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.

  5. 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.

  6. Calcium level urine test [ Time Frame: 1 day ]
    Urine test will be performed on all groups to measure markers of glycogen storage disease.

  7. Citrate level urine test [ Time Frame: 1 day ]
    Urine test will be performed on all groups to measure markers of glycogen storage disease.

  8. Creatinine level urine test [ Time Frame: 1 day ]
    Urine test will be performed on all groups to measure markers of glycogen storage disease.

  9. Microalbumin level urine test [ Time Frame: 1 day ]
    Urine test will be performed on all groups to measure markers of glycogen storage disease.

  10. Oxalate level urine test [ Time Frame: 1 day ]
    Urine test will be performed on all groups to measure markers of glycogen storage disease.

  11. Uric acid level urine test [ Time Frame: 1 day ]
    Urine test will be performed on all groups to measure markers of glycogen storage disease.

  12. Prealbumin blood test [ Time Frame: 1 day ]
    Blood test will be performed on all groups to measure markers of glycogen storage disease.

  13. Hemoglobin A1C blood test [ Time Frame: 1 day ]
    Blood test will be performed on all groups to measure markers of glycogen storage disease.


Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 100 Years   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Parents and other family members of patients currently undergoing treatment for GSD at the University of Florida
Criteria

Inclusion Criteria:

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

Exclusion Criteria:

  • pregnant females
Contacts and Locations

Information from the National Library of Medicine

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


Locations
United States, Florida
University of Florida
Gainesville, Florida, United States, 32608
Sponsors and Collaborators
University of Florida
Investigators
Principal Investigator: David A Weinstein, MD University of Florida
More Information

Publications:
Responsible Party: University of Florida
ClinicalTrials.gov Identifier: NCT02057731     History of Changes
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

Additional relevant MeSH terms:
Metabolic Diseases
Glycogen Storage Disease
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn