GBE Deficiency (GSD IV and APBD) Natural History Study

• Sponsor: Duke University (Other)
• Overall Status: Recruiting
• CT.gov ID: NCT02683512
• Collaborator: (none)
• Enrollment: 200
• Location: 1
• Duration (Months): 120
• Patients Per Site Per Month: 1.7

Study Details

Study Description

Brief Summary

A natural history study on glycogen branching enzyme (GBE) deficiency, diagnosed as Glycogen Storage Disease Type IV (GSD IV) or Adult Polyglucosan Body Disease (APBD)

Condition or Disease	Intervention/Treatment	Phase
Glycogen Storage Disease Type IV; Adult Polyglucosan Body Disease	Other: No intervention

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 Design

• Study Type: Observational [Patient Registry]
• Anticipated Enrollment: 200 participants
• Observational Model: Cohort
• Time Perspective: Other
• Official Title: GBE Deficiency (GSD IV and APBD) Natural History Study
• Study Start Date: Dec 1, 2015
• Anticipated Primary Completion Date: Dec 1, 2025
• Anticipated Study Completion Date: Dec 1, 2025

Outcome Measures

Primary Outcome Measures

1. Progression of disease [Duration of study, approximately 10 years]

Eligibility Criteria

Criteria

• Ages Eligible for Study: 0 Years to 90 Years
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No

• Diagnosis of GSD IV or APBD via:

• Two variants in the GBE1 gene

• Deficient GBE activity in liver, muscle, skin fibroblast or other tissue

• One variant in GBE1 gene with evidence of disease that is pathogenic, per the clinician

• Able to provide informed consent for self (adults) or affected individual (minor or adults with a legally authorized representative)

• Able to provide consent for release of medical records

• Pregnant women with a diagnosis of GSD IV or APBD will be included

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Duke University Medical Center	Durham	North Carolina	United States	27710

Sponsors and Collaborators

• Duke University

Investigators

• Principal Investigator: Priya Kishnani, MD, Duke University

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• Responsible Party: Duke University
• ClinicalTrials.gov Identifier: NCT02683512
• Other Study ID Numbers: Pro00060753
• First Posted: Feb 17, 2016
• Last Update Posted: May 26, 2022
• Last Verified: Nov 1, 2021

• Individual Participant Data (IPD) Sharing Statement: No
• Plan to Share IPD: No
• Additional relevant MeSH terms: Glycogen Storage Disease; Glycogen Storage Disease Type IV

Study Results

No Results Posted as of May 26, 2022