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

Completed

• Conditions: Glycogen Storage Disease Type Ia; Inflammatory Bowel Disease
• Interventions: Other: Glycogen Storage Disease type Ia patients

• Registration Number: NCT01854242
• Lead Sponsor: University of Florida

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.

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.

Basic Information
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Recruitment & Eligibility
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Study & Design
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Trial Locations

Study Timeline

• Study First Submitted: 2013-05-10
• Study First Submitted QC: 2013-05-10
• Study First Posted: 2013-05-15
• Study Start: 2013-11
• Primary Completion: 2014-10
• Study Completion: 2014-10
• Results First Submitted: 2014-12-10
• Results First Submitted QC: 2014-12-10
• Results First Posted: 2014-12-18
• Status Verified: 2019-02
• Last Update Submitted: 2020-07-24
• Last Update Posted: 2020-07-28

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 50

Inclusion Criteria

• Anyone with Glycogen Storage Disease type Ia

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Exclusion Criteria

• Anyone where the amount of blood needed to complete the Prometheus test exceeds 3ml/kg.

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Glycogen Storage Disease type Ia patients	Glycogen Storage Disease type Ia patients	The participants will have one blood draw for this study. The test will be performed on the blood.

Primary Outcome Measures

Name	Time	Method
Serologic, Genetic and Inflammatory Markers Consistent With Inflammatory Bowel Disease	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.

Trial Locations

Locations (1)

University of Florida and Shands; 🇺🇸 Gainesville, Florida, United States