Clinical Trial: Study of Glycogen Storage Disease Expression in Carriers

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: Characterizing Expression of Glycogen Storage Disease in Heterozygous Carriers

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 Summary:

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.


Sponsor: University of Florida

Current Primary Outcome: Cholesterol level blood test [ Time Frame: 1 day ]

Blood test will be performed on all groups to measure markers of glycogen storage disease.


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • 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.


Original Secondary Outcome:

  • 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.


Information By: University of Florida

Dates:
Date Received: February 5, 2014
Date Started: February 2014
Date Completion:
Last Updated: December 1, 2016
Last Verified: December 2016