Study of Glycogen Storage Disease Expression in Carriers

Glycogen Storage Disease Clinical Trial

Official title:

Characterizing Expression of Glycogen Storage Disease in Heterozygous Carriers

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02057731
• Other study ID #: IRB201300688
• Status: Completed
• Phase: N/A
• First received: February 5, 2014
• Last updated: December 1, 2016
• Start date: February 2014
• Est. completion date: July 2016

Study information

• Verified date: December 2016
• Source: University of Florida
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Institutional Review Board
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 114
• Est. completion date: July 2016
• Est. primary completion date: July 2016
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 18 Years to 100 Years

Eligibility

Inclusion Criteria:

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

Exclusion Criteria:

• pregnant females

Study Design

Observational Model: Case Control, Time Perspective: Cross-Sectional

Related Conditions & MeSH terms

• Glycogen Storage Disease
• Metabolic Diseases

Intervention

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.

Locations

Country	Name	City	State
United States	University of Florida	Gainesville	Florida

Sponsors (1)

Lead Sponsor	Collaborator
University of Florida

Country where clinical trial is conducted

United States, 

References & Publications (1)

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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Cholesterol level blood test	Blood test will be performed on all groups to measure markers of glycogen storage disease.	1 day	No
Secondary	Comprehensive metabolic panel blood test	Blood test will be performed on all groups to measure markers of glycogen storage disease.	1 day	No
Secondary	Lipid panel blood test	Blood test will be performed on all groups to measure markers of glycogen storage disease.	1 day	No
Secondary	Uric acid level blood test	Blood test will be performed on all groups to measure markers of glycogen storage disease.	1 day	No
Secondary	Creatine kinase (CK) level blood test	Blood test will be performed on all groups to measure markers of glycogen storage disease.	1 day	No
Secondary	C-reactive protein (CRP) level blood test	Blood test will be performed on all groups to measure markers of glycogen storage disease.	1 day	No
Secondary	Calcium level urine test	Urine test will be performed on all groups to measure markers of glycogen storage disease.	1 day	No
Secondary	Citrate level urine test	Urine test will be performed on all groups to measure markers of glycogen storage disease.	1 day	No
Secondary	Creatinine level urine test	Urine test will be performed on all groups to measure markers of glycogen storage disease.	1 day	No
Secondary	Microalbumin level urine test	Urine test will be performed on all groups to measure markers of glycogen storage disease.	1 day	No
Secondary	Oxalate level urine test	Urine test will be performed on all groups to measure markers of glycogen storage disease.	1 day	No
Secondary	Uric acid level urine test	Urine test will be performed on all groups to measure markers of glycogen storage disease.	1 day	No
Secondary	Prealbumin blood test	Blood test will be performed on all groups to measure markers of glycogen storage disease.	1 day	No
Secondary	Hemoglobin A1C blood test	Blood test will be performed on all groups to measure markers of glycogen storage disease.	1 day	No