Glycogen Storage Disease Type Ia and Inflammatory Bowel Disease: A New Comorbidity or Secondary Consequence
Trial Snapshot
- Phase
- Not Applicable
- Status
- Completed
- Sponsor
- University of Florida
- Enrollment
- 50
- Locations
- 1
- Primary Endpoint
- Serologic, Genetic and Inflammatory Markers Consistent With Inflammatory Bowel Disease
Study Overview
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.
Study Design
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Prospective
Eligibility Criteria
- Sex
- All
- Accepts Healthy Volunteers
- No
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.
Outcomes
Primary Outcomes
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.
Secondary Outcomes
No secondary outcomes reported