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

This study has been completed.
Prometheus Laboratories
Information provided by (Responsible Party):
University of Florida Identifier:
First received: May 10, 2013
Last updated: December 22, 2014
Last verified: December 2014
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.

Condition Intervention
Inflammatory Bowel Disease
Glycogen Storage Disease Type Ia
Other: Glycogen Storage Disease type Ia patients

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Glycogen Storage Disease Type Ia and Inflammatory Bowel Disease: A New Comorbidity or Secondary Consequence

Resource links provided by NLM:

Further study details as provided by University of Florida:

Primary Outcome Measures:
  • 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.

Enrollment: 50
Study Start Date: November 2013
Study Completion Date: October 2014
Primary Completion Date: October 2014 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Glycogen Storage Disease type Ia patients
The participants will have one blood draw for this study. The test will be performed on the blood.
Other: Glycogen Storage Disease type Ia patients
The participants will have one blood draw for this study. The test will be performed on the blood.
Other Name: GSD Type Ia

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.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
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.

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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01854242

United States, Florida
University of Florida and Shands
Gainesville, Florida, United States, 32610
Sponsors and Collaborators
University of Florida
Prometheus Laboratories
Principal Investigator: Nicole T Lawrence, MD University of Florida
Principal Investigator: David A Weinstein, MD University of Florida
  More Information

Responsible Party: University of Florida Identifier: NCT01854242     History of Changes
Other Study ID Numbers: IRB201300312
COL13IBD01 ( Other Grant/Funding Number: Prometheus Laboratories/COL13IBD01 )
Study First Received: May 10, 2013
Results First Received: December 10, 2014
Last Updated: December 22, 2014

Additional relevant MeSH terms:
Glycogen Storage Disease Type I
Intestinal Diseases
Inflammatory Bowel Diseases
Metabolic Diseases
Glycogen Storage Disease
Gastrointestinal Diseases
Digestive System Diseases
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn processed this record on May 25, 2017