Study of Glycogen Storage Disease Expression in Carriers

• Sponsor: University of Florida (Other)
• Overall Status: Completed
• CT.gov ID: NCT02057731
• Collaborator: (none)
• Enrollment: 114
• Location: 1
• Duration (Months): 28.9
• Patients Per Site Per Month: 3.9

Study Details

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	Phase
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: Feb 1, 2014
• Actual Primary Completion Date: Jul 1, 2016
• Actual Study Completion Date: Jul 1, 2016

Arms and Interventions

Arm	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 [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 [1 day]

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

2. Lipid panel blood test [1 day]

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

3. Uric acid level blood test [1 day]

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

4. Creatine kinase (CK) level blood test [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 [1 day]

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

6. Calcium level urine test [1 day]

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

7. Citrate level urine test [1 day]

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

8. Creatinine level urine test [1 day]

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

9. Microalbumin level urine test [1 day]

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

10. Oxalate level urine test [1 day]

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

11. Uric acid level urine test [1 day]

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

12. Prealbumin blood test [1 day]

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

13. Hemoglobin A1C blood test [1 day]

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

Eligibility Criteria

Criteria

• Ages Eligible for Study: 18 Years to 100 Years
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No

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

Locations

	Site	City	State	Country	Postal Code
1	University of Florida	Gainesville	Florida	United States	32608

Sponsors and Collaborators

• University of Florida

Investigators

• Principal Investigator: David A Weinstein, MD, University of Florida

Study Documents (Full-Text)

None provided.

More Information

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.

• Responsible Party: University of Florida
• ClinicalTrials.gov Identifier: NCT02057731
• Other Study ID Numbers: IRB201300688
• First Posted: Feb 7, 2014
• Last Update Posted: Dec 2, 2016
• Last Verified: Dec 1, 2016

• Individual Participant Data (IPD) Sharing Statement: Undecided
• Plan to Share IPD: Undecided
• Additional relevant MeSH terms: Glycogen Storage Disease; Metabolic Diseases

Study Results

No Results Posted as of Dec 2, 2016