Study of Glycogen Storage Disease Expression in Carriers

Characterizing Expression of Glycogen Storage Disease in Heterozygous 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.

Study Overview

• Status: Completed
• Conditions: Glycogen Storage Disease
• Intervention / Treatment: 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 Type: Observational
• Enrollment (Actual): 114

Contacts and Locations

Study Locations

• United States
  • Florida
    • Gainesville, Florida, United States, 32608
      • University of Florida

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 100 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Parents and other family members of patients currently undergoing treatment for GSD at the University of Florida

Description

Inclusion Criteria:

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

Exclusion Criteria:

• pregnant females

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Control
• Time Perspectives: Cross-Sectional

Number of groups / cohorts

5

Cohorts and Interventions

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.

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: University of Florida

Publications and helpful links

General Publications

• Weinstein DA, Correia CE, Conlon T, Specht A, Verstegen J, Onclin-Verstegen K, Campbell-Thompson M, Dhaliwal G, Mirian L, Cossette H, Falk DJ, Germain S, Clement N, Porvasnik S, Fiske L, Struck M, Ramirez HE, Jordan J, Andrutis K, Chou JY, Byrne BJ, Mah CS. Adeno-associated virus-mediated correction of a canine model of glycogen storage disease type Ia. Hum Gene Ther. 2010 Jul;21(7):903-10. doi: 10.1089/hum.2009.157.

Study record dates

Study Major Dates

• Study Start: February 1, 2014
• Primary Completion (Actual): July 1, 2016
• Study Completion (Actual): July 1, 2016

Study Registration Dates

• First Submitted: February 5, 2014
• First Submitted That Met QC Criteria: February 5, 2014
• First Posted (Estimate): February 7, 2014

Study Record Updates

• Last Update Posted (Estimate): December 2, 2016
• Last Update Submitted That Met QC Criteria: December 1, 2016
• Last Verified: December 1, 2016

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Genetic Diseases, Inborn; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Metabolic Diseases; Glycogen Storage Disease
• Other Study ID Numbers: IRB201300688

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: Undecided