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

NCT01854242 | Completed Results

• 2 other identifiers: IRB201300312COL13IBD01
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

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.

Conditions

Inflammatory Bowel Disease; Glycogen Storage Disease Type Ia

Outcome Measures

Primary Outcomes (1)

• 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

Study Arms (1)

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

Interventions

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.

Also known as: GSD Type Ia

Glycogen Storage Disease type Ia patients

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• Anyone with Glycogen Storage Disease type Ia

You may not qualify if:

• Anyone where the amount of blood needed to complete the Prometheus test exceeds 3ml/kg.

Sponsors & Collaborators

• University of Florida: lead
• Prometheus Laboratories: collaborator

Study Sites (1)

University of Florida and Shands

Gainesville, Florida, 32610, United States

Location

MeSH Terms

Conditions

Inflammatory Bowel Diseases; Hepatorenal form of glycogen storage disease

Condition Hierarchy (Ancestors)

Gastroenteritis; Gastrointestinal Diseases; Digestive System Diseases; Intestinal Diseases

Results Point of Contact

• Title: David A. Weinstein, MD, MMSc
• Organization: University of Florida

weinsda@peds.ufl.edu

3522650855

Study Officials

• Nicole T Lawrence, MD

  University of Florida

  PRINCIPAL INVESTIGATOR

• David A Weinstein, MD

  University of Florida

  PRINCIPAL INVESTIGATOR

Publication Agreements

• PI is Sponsor Employee: No
• Restrictive Agreement: No

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 10, 2013
• First Posted: May 15, 2013
• Study Start: November 1, 2013
• Primary Completion: October 1, 2014
• Study Completion: October 1, 2014
• Last Updated: July 28, 2020
• Results First Posted: December 18, 2014

Record last verified: 2019-02

Locations

US (1)