GBE Deficiency (GSD IV and APBD) Natural History Study

Recruiting

• Conditions: GSD4; Glycogen Storage Disease Type IV; Adult Polyglucosan Body Disease; GSD IV; APBD

• Registration Number: NCT02683512
• Lead Sponsor: Duke University

Brief Summary

Collection and review of clinical information related to glycogen branching enzyme (GBE) deficiency, diagnosed as Glycogen Storage Disease Type IV (GSD IV) or Adult Polyglucosan Body Disease (APBD generated during clinic visits.

Detailed Description

This natural history study will serve as a repository of clinical, laboratory, and biochemical information on individuals with GBE deficiency, diagnosed as either GSD IV or APBD. This information will allow a more definitive description of GBE deficiency to be developed, which will permit development of treatment strategies for this disease.

Duke will be the only site where this study takes place. However, since this is a rare disorder, participants who receive care for GBE deficiency at other institutions will be included. We will collect retrospective data from patient charts on diagnosed individuals, as far back as necessary to capture the clinical course of the disorder. Prospective data collected from patient charts after enrollment will be captured as well. Participant's medical records will be continually reviewed for the duration of the study.

Data will be collected from medical records and will only pertain to clinically relevant information, including, but not limited to: demographic and diagnostic information, tissue biopsy results, medical and family history, review of systems, imaging studies, results of liver, muscle, and nerve function testing, and urine and blood laboratory results.

Study Timeline

• Study Start: 2015-12
• Study First Submitted: 2016-02-04
• Study First Submitted QC: 2016-02-16
• Study First Posted: 2016-02-17
• Status Verified: 2024-05
• Last Update Submitted: 2024-05-17
• Last Update Posted: 2024-05-20
• Primary Completion: 2035-12
• Study Completion: 2035-12

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 200

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Progression of disease	Duration of study, approximately 10 years

Trial Locations

Locations (1)

Duke University Medical Center; 🇺🇸 Durham, North Carolina, United States