Study of Glycogen Storage Disease Expression in Carriers

University of Florida

Status: Completed

Conditions: Glycogen Storage Disease

Treatments: Genetic: Glycogen Storage Disease markers

Study type: Observational

Funder types: Other

Identifiers

NCT02057731

IRB201300688

Details and patient eligibility

About

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.

Full 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.

Enrollment: 114 patients

Sex: All

Ages: 18 to 100 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

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

Exclusion criteria

• pregnant females

Trial design

114 participants in 5 patient groups

Ia carriers

Description:

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.

Treatment:

Genetic: Glycogen Storage Disease markers

Ib carriers

Description:

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.

Treatment:

Genetic: Glycogen Storage Disease markers

III carriers

Description:

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.

Treatment:

Genetic: Glycogen Storage Disease markers

0, VI, IX carriers

Description:

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.

Treatment:

Genetic: Glycogen Storage Disease markers

Noncarriers

Description:

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.

Treatment:

Genetic: Glycogen Storage Disease markers