Trial record 6 of 69 for:    "glycogen storage disease type IX" OR "Glycogen Storage Disease"

Study of Glycogen Storage Disease Expression in Carriers

This study is currently recruiting participants. (see Contacts and Locations)
Verified August 2014 by University of Florida
Sponsor:
Information provided by (Responsible Party):
University of Florida
ClinicalTrials.gov Identifier:
NCT02057731
First received: February 5, 2014
Last updated: August 22, 2014
Last verified: August 2014
  Purpose

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 Intervention
Glycogen Storage Disease
Genetic: Glycogen Storage Disease markers

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Cross-Sectional
Official Title: Characterizing Expression of Glycogen Storage Disease in Heterozygous Carriers

Resource links provided by NLM:


Further study details as provided by University of Florida:

Primary Outcome Measures:
  • Cholesterol level blood test [ Time Frame: 1 day ] [ Designated as safety issue: No ]
    Blood test will be performed on all groups to measure markers of glycogen storage disease.


Secondary Outcome Measures:
  • Comprehensive metabolic panel blood test [ Time Frame: 1 day ] [ Designated as safety issue: No ]
    Blood test will be performed on all groups to measure markers of glycogen storage disease.

  • Lipid panel blood test [ Time Frame: 1 day ] [ Designated as safety issue: No ]
    Blood test will be performed on all groups to measure markers of glycogen storage disease.

  • Uric acid level blood test [ Time Frame: 1 day ] [ Designated as safety issue: No ]
    Blood test will be performed on all groups to measure markers of glycogen storage disease.

  • Creatine kinase (CK) level blood test [ Time Frame: 1 day ] [ Designated as safety issue: No ]
    Blood test will be performed on all groups to measure markers of glycogen storage disease.

  • C-reactive protein (CRP) level blood test [ Time Frame: 1 day ] [ Designated as safety issue: No ]
    Blood test will be performed on all groups to measure markers of glycogen storage disease.

  • Calcium level urine test [ Time Frame: 1 day ] [ Designated as safety issue: No ]
    Urine test will be performed on all groups to measure markers of glycogen storage disease.

  • Citrate level urine test [ Time Frame: 1 day ] [ Designated as safety issue: No ]
    Urine test will be performed on all groups to measure markers of glycogen storage disease.

  • Creatinine level urine test [ Time Frame: 1 day ] [ Designated as safety issue: No ]
    Urine test will be performed on all groups to measure markers of glycogen storage disease.

  • Microalbumin level urine test [ Time Frame: 1 day ] [ Designated as safety issue: No ]
    Urine test will be performed on all groups to measure markers of glycogen storage disease.

  • Oxalate level urine test [ Time Frame: 1 day ] [ Designated as safety issue: No ]
    Urine test will be performed on all groups to measure markers of glycogen storage disease.

  • Uric acid level urine test [ Time Frame: 1 day ] [ Designated as safety issue: No ]
    Urine test will be performed on all groups to measure markers of glycogen storage disease.


Estimated Enrollment: 120
Study Start Date: February 2014
Estimated Study Completion Date: June 2015
Estimated Primary Completion Date: June 2015 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
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.

Detailed Description:

Subjects will be asked to contribute about half a tablespoon 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

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

Parents of patients currently undergoing treatment for GSD at the University of Florida

Criteria

Inclusion Criteria:

  • parents of patients undergoing treatment for GSD at the University of Florida

Exclusion Criteria:

  • pregnant females
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT02057731

Contacts
Contact: Laurie Brown, BS (352) 273-6655 lbrown@peds.ufl.edu

Locations
United States, Florida
University of Florida Recruiting
Gainesville, Florida, United States, 32608
Contact: Laurie Brown, BS    352-273-6655    lbrown@peds.ufl.edu   
Sub-Investigator: Tayoot Chengsupanimit, BS         
Sponsors and Collaborators
University of Florida
Investigators
Principal Investigator: David A Weinstein, MD University of Florida
  More Information

Publications:
Responsible Party: University of Florida
ClinicalTrials.gov Identifier: NCT02057731     History of Changes
Other Study ID Numbers: 201300688
Study First Received: February 5, 2014
Last Updated: August 22, 2014
Health Authority: United States: Institutional Review Board

Additional relevant MeSH terms:
Glycogen Storage Disease
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases

ClinicalTrials.gov processed this record on August 27, 2014