Try the modernized ClinicalTrials.gov beta website. Learn more about the modernization effort.
Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu

Study of the Relationship Between Glycogen Storage Disease Type Ia and Inflammatory Bowel Disease

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT01854242
Recruitment Status : Completed
First Posted : May 15, 2013
Results First Posted : December 18, 2014
Last Update Posted : July 28, 2020
Sponsor:
Collaborator:
Prometheus Laboratories
Information provided by (Responsible Party):
University of Florida

Study Description
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information
Brief Summary:
The purpose of this research study is to understand the relationship between inflammatory bowel disease (IBD) and Glycogen storage disease (GSD)type Ia. GSD type Ib has been established to have an association with IBD with clinical and histologic features that mirror those of Crohn disease. Development of the disease seems to be related to the defect of neutrophil function in individuals with GSD type Ib and subsequent colonic inflammation. In the last decade, it has become a standard for patients with GSD type Ib and gastrointestinal symptoms to be evaluated for IBD. Patients with GSD type Ia were not recognized to have similar gastrointestinal symptoms until recently. The prevalence of IBD is greater in patients with GSD type Ia versus the general population.

Condition or disease Intervention/treatment
Inflammatory Bowel Disease Glycogen Storage Disease Type Ia Other: Glycogen Storage Disease type Ia patients

Detailed Description:

The purpose of this research study is to understand the relationship between IBD and GSD type Ia. The Investigators will be attempting to develop a blood test which will be aimed at the participants diagnosis of IBD.

As a participant in this research study, a blood sample will be collected during your admission to the University of Florida. This will not affect the length of stay of your scheduled visit. There will be no scheduled clinic follow-up.

Study Design
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Layout table for study information
Study Type : Observational
Actual Enrollment : 50 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Glycogen Storage Disease Type Ia and Inflammatory Bowel Disease: A New Comorbidity or Secondary Consequence
Study Start Date : November 2013
Actual Primary Completion Date : October 2014
Actual Study Completion Date : October 2014

Resource links provided by the National Library of Medicine


Groups and Cohorts
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Group/Cohort Intervention/treatment
Glycogen Storage Disease type Ia patients
The participants will have one blood draw for this study. The test will be performed on the blood.
 Other: Glycogen Storage Disease type Ia patients
The participants will have one blood draw for this study. The test will be performed on the blood.
Other Name: GSD Type Ia


Outcome Measures
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Primary Outcome Measures :
  1. Serologic, Genetic and Inflammatory Markers Consistent With Inflammatory Bowel Disease [ Time Frame: 2 weeks ]
    Participants who tested positive for Crohn disease, ulcerative colitis, or unspecified inflammatory bowel disease (IBD) on a panel for IBD are reported in the Outcome Measure Data Table.


Eligibility Criteria
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Information from the National Library of Medicine

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, Learn About Clinical Studies.


Layout table for eligibility information
Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Glycogen storage disease (GSD) type I is an autosomal recessive disorder of glycogen metabolism that affects approximately 1 in 100,000 live births (1). Mutations of the genes that encode glucose 6-phosphatase [type Ia] (2) and glucose 6-phosphate translocase [type Ib] (3) have been isolated. Diagnosis is usually suspected in infants with fasting hypoglycemia, lactic acidosis, hyperlipidemia, and hepatomegaly. Other features include stomatitis, growth retardation, osteopenia and hyperuricemia.
Criteria

Inclusion Criteria:

  • Anyone with Glycogen Storage Disease type Ia

Exclusion Criteria:

  • Anyone where the amount of blood needed to complete the Prometheus test exceeds 3ml/kg.
Contacts and Locations
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01854242


Locations
Layout table for location information
United States, Florida
University of Florida and Shands
Gainesville, Florida, United States, 32610
Sponsors and Collaborators
University of Florida
Prometheus Laboratories
Investigators
Layout table for investigator information
Principal Investigator: Nicole T Lawrence, MD University of Florida
Principal Investigator: David A Weinstein, MD University of Florida
More Information
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information
Layout table for additonal information
Responsible Party: University of Florida
ClinicalTrials.gov Identifier: NCT01854242    
Other Study ID Numbers: IRB201300312
COL13IBD01 ( Other Grant/Funding Number: Prometheus Laboratories/COL13IBD01 )
First Posted: May 15, 2013    Key Record Dates
Results First Posted: December 18, 2014
Last Update Posted: July 28, 2020
Last Verified: February 2019
Additional relevant MeSH terms:
Layout table for MeSH terms
Intestinal Diseases
Inflammatory Bowel Diseases
Glycogen Storage Disease
Glycogen Storage Disease Type I
Metabolic Diseases
Gastrointestinal Diseases
 Digestive System Diseases
Gastroenteritis
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn