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| ID | Type | Description | Link |
|---|---|---|---|
| COL13IBD01 | Other Grant/Funding Number | Prometheus Laboratories/COL13IBD01 |
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| Name | Class |
|---|---|
| Prometheus Laboratories | INDUSTRY |
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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Glycogen Storage Disease type Ia patients | The participants will have one blood draw for this study. The test will be performed on the blood. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Glycogen Storage Disease type Ia patients | Other | The participants will have one blood draw for this study. The test will be performed on the blood. |
|
| Measure | Description | Time Frame |
|---|---|---|
| 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. | 2 weeks |
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Inclusion Criteria:
Exclusion Criteria:
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Glycogen storage disease (GSD) type I is an autosomal recessive disorder of glycogen metabolism that affects approximately 1 in 100,000 live births (1). Mutations of the genes that encode glucose 6-phosphatase [type Ia] (2) and glucose 6-phosphate translocase [type Ib] (3) have been isolated. Diagnosis is usually suspected in infants with fasting hypoglycemia, lactic acidosis, hyperlipidemia, and hepatomegaly. Other features include stomatitis, growth retardation, osteopenia and hyperuricemia.
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| Name | Affiliation | Role |
|---|---|---|
| Nicole T Lawrence, MD | University of Florida | Principal Investigator |
| David A Weinstein, MD | University of Florida | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Florida and Shands | Gainesville | Florida | 32610 | United States |
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| ID | Title | Description |
|---|---|---|
| FG000 | Glycogen Storage Disease Type Ia Patients | The participants will have one blood draw for this study. The test will be performed on the blood. |
| Title | Milestones | Reasons Not Completed | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Overall Study |
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| ID | Title | Description |
|---|---|---|
| BG000 | Glycogen Storage Disease Type Ia Patients | The participants will have one blood draw for this study. The test will be performed on the blood. |
| Units | Counts |
|---|---|
| Participants |
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| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes |
|---|---|---|---|---|---|---|---|---|---|
| Age, Categorical | Count of Participants |
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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. | Posted | Number | participants testing positive | 2 weeks |
|
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| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | Glycogen Storage Disease Type Ia Patients | The participants will have one blood draw for this study. The test will be performed on the blood. |
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| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| David A. Weinstein, MD, MMSc | University of Florida | 3522650855 | weinsda@peds.ufl.edu |
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| ID | Term |
|---|---|
| D015212 | Inflammatory Bowel Diseases |
| C538655 | Hepatorenal form of glycogen storage disease |
| ID | Term |
|---|---|
| D005759 | Gastroenteritis |
| D005767 | Gastrointestinal Diseases |
| D004066 | Digestive System Diseases |
| D007410 | Intestinal Diseases |
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| Participants |
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| Sex: Female, Male | Count of Participants | Participants |
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| Region of Enrollment | Number | participants |
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| 0 |
| 50 |
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| 50 |
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