Study of the Relationship Between Glycogen Storage Disease Type Ia and Inflammatory Bowel Disease
| Status: | Completed |
|---|---|
| Conditions: | Irritable Bowel Syndrome (IBS), Endocrine, Gastrointestinal |
| Therapuetic Areas: | Endocrinology, Gastroenterology |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 2/22/2019 |
| Start Date: | November 2013 |
| End Date: | October 2014 |
Glycogen Storage Disease Type Ia and Inflammatory Bowel Disease: A New Comorbidity or Secondary Consequence
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.
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.
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.
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.
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.
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