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

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.

Study Overview

• Status: Completed
• Conditions: Inflammatory Bowel Disease; Glycogen Storage Disease Type Ia
• Intervention / Treatment: Other: Glycogen Storage Disease type Ia patients

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.

• Study Type: Observational
• Enrollment (Actual): 50

Contacts and Locations

Study Locations

• United States
  • Florida
    • Gainesville, Florida, United States, 32610
      • University of Florida and Shands

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: ADULT; OLDER_ADULT; CHILD
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• 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.

Description

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.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
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 Names: GSD Type Ia

What is the study measuring?

Primary Outcome Measures

Outcome Measure	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

Collaborators and Investigators

• Sponsor: University of Florida
• Collaborators: Prometheus Laboratories
• Investigators: Principal Investigator: Nicole T Lawrence, MD, University of Florida

Study record dates

Study Major Dates

• Study Start: November 1, 2013
• Primary Completion (ACTUAL): October 1, 2014
• Study Completion (ACTUAL): October 1, 2014

Study Registration Dates

• First Submitted: May 10, 2013
• First Submitted That Met QC Criteria: May 10, 2013
• First Posted (ESTIMATE): May 15, 2013

Study Record Updates

• Last Update Posted (ACTUAL): July 28, 2020
• Last Update Submitted That Met QC Criteria: July 24, 2020
• Last Verified: February 1, 2019

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Digestive System Diseases; Pathologic Processes; Gastrointestinal Diseases; Genetic Diseases, Inborn; Gastroenteritis; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Disease; Inflammatory Bowel Diseases; Intestinal Diseases; Metabolic Diseases; Glycogen Storage Disease; Glycogen Storage Disease Type I
• Other Study ID Numbers: IRB201300312; COL13IBD01 (OTHER_GRANT: Prometheus Laboratories/COL13IBD01)