Clinical trial NCT02057731: Study of Glycogen Storage Disease Expression in Carriers
Official title: Characterizing Expression of Glycogen Storage Disease in Heterozygous Carriers
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Glycogen Storage Disease
Lead sponsor: University of Florida
Sponsor class: OTHER
First posted: 2014-02-07
Enrollment: 114
Sex: ALL
Minimum age (years): 18
Maximum age (years): 100
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_CONTROL
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Parents and other family members of patients currently undergoing treatment for GSD at the University of Florida

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 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.

Eligibility criteria: Inclusion Criteria:

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

Exclusion Criteria:

* pregnant females

Primary outcomes:
measure: Cholesterol level blood test
timeFrame: 1 day
Secondary outcomes:
measure: Comprehensive metabolic panel blood test
timeFrame: 1 day
measure: Lipid panel blood test
timeFrame: 1 day
measure: Uric acid level blood test
timeFrame: 1 day
measure: Creatine kinase (CK) level blood test
timeFrame: 1 day
measure: C-reactive protein (CRP) level blood test
timeFrame: 1 day
measure: Calcium level urine test
timeFrame: 1 day
measure: Citrate level urine test
timeFrame: 1 day
measure: Creatinine level urine test
timeFrame: 1 day
measure: Microalbumin level urine test
timeFrame: 1 day
measure: Oxalate level urine test
timeFrame: 1 day
measure: Uric acid level urine test
timeFrame: 1 day
measure: Prealbumin blood test
timeFrame: 1 day
measure: Hemoglobin A1C blood test
timeFrame: 1 day
Other outcomes:
Locations:
city: Gainesville
country: United States
facility: University of Florida
state: Florida
Study officials:
affiliation: University of Florida
name: David A Weinstein, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.