Glycogen Storage Disease Type Ia, Inflammatory Bowel Disease
Conditions
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.
Interventions
OTHERGlycogen Storage Disease type Ia patients
The participants will have one blood draw for this study. The test will be performed on the blood.
Sponsors
Prometheus Laboratories
University of Florida
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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. |
Countries
United States
Participant flow
Participants by arm
| Arm | Count |
|---|---|
| Glycogen Storage Disease Type Ia Patients The participants will have one blood draw for this study. The test will be performed on the blood. | 50 |
| Total | 50 |
Baseline characteristics
| Characteristic | Glycogen Storage Disease Type Ia Patients |
|---|---|
| Age, Categorical <=18 years | 32 Participants |
| Age, Categorical >=65 years | 0 Participants |
| Age, Categorical Between 18 and 65 years | 18 Participants |
| Region of Enrollment United States | 50 participants |
| Sex: Female, Male Female | 23 Participants |
| Sex: Female, Male Male | 27 Participants |
Adverse events
| Event type | EG000 affected / at risk |
|---|---|
| deaths Total, all-cause mortality | — / — |
| other Total, other adverse events | 0 / 50 |
| serious Total, serious adverse events | 0 / 50 |
Outcome results
Primary
Serologic, Genetic and Inflammatory Markers Consistent With Inflammatory Bowel Disease
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.
Time frame: 2 weeks
| Arm | Measure | Value (NUMBER) |
|---|---|---|
| Glycogen Storage Disease Type Ia Patients | Serologic, Genetic and Inflammatory Markers Consistent With Inflammatory Bowel Disease | 11 participants testing positive |