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

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University of Florida

Status

Completed

Conditions

Inflammatory Bowel Disease
Glycogen Storage Disease Type Ia

Treatments

Other: Glycogen Storage Disease type Ia patients

Study type

Observational

Funder types

Other
Industry

Identifiers

NCT01854242
IRB201300312
COL13IBD01 (Other Grant/Funding Number)

Details and patient eligibility

About

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.

Full 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.

Enrollment

50 patients

Sex

All

Volunteers

No Healthy Volunteers

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.

Trial design

50 participants in 1 patient group

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

Trial contacts and locations

1

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Data sourced from clinicaltrials.gov

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