NCT02057731

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
114

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Feb 2014

Typical duration for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

February 1, 2014

Completed
4 days until next milestone

First Submitted

Initial submission to the registry

February 5, 2014

Completed
2 days until next milestone

First Posted

Study publicly available on registry

February 7, 2014

Completed
2.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 1, 2016

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

July 1, 2016

Completed
Last Updated

December 2, 2016

Status Verified

December 1, 2016

Enrollment Period

2.4 years

First QC Date

February 5, 2014

Last Update Submit

December 1, 2016

Conditions

Glycogen Storage Disease

Outcome Measures

Primary Outcomes (1)

  • Cholesterol level blood test

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

    1 day

Secondary Outcomes (13)

  • Comprehensive metabolic panel blood test

    1 day

  • Lipid panel blood test

    1 day

  • Uric acid level blood test

    1 day

  • Creatine kinase (CK) level blood test

    1 day

  • C-reactive protein (CRP) level blood test

    1 day

  • +8 more secondary outcomes

Study Arms (5)

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

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

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

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

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

Interventions

Glycogen Storage Disease markersGENETIC

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 carriersIII carriersIa carriersIb carriersNoncarriers

Eligibility Criteria

Age18 Years - 100 Years
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Parents and other family members of patients currently undergoing treatment for GSD at the University of Florida

You may qualify if:

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

You may not qualify if:

  • pregnant females

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

University of Florida

Gainesville, Florida, 32608, United States

Location

Related 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.

    PMID: 20163245BACKGROUND

MeSH Terms

Conditions

Glycogen Storage Disease

Condition Hierarchy (Ancestors)

Carbohydrate Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • David A Weinstein, MD

    University of Florida

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

February 5, 2014

First Posted

February 7, 2014

Study Start

February 1, 2014

Primary Completion

July 1, 2016

Study Completion

July 1, 2016

Last Updated

December 2, 2016

Record last verified: 2016-12

Locations

US(1)