Recruiting

Observational Study

Sponsor:

Duke University

Code:

NCT02683512

Conditions

Glycogen Storage Disease Type IV

Adult Polyglucosan Body Disease

GSD4

GSD IV

APBD

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

Interventions

No intervention

Study Details

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.

Conditions

Glycogen Storage Disease Type IV

Adult Polyglucosan Body Disease

GSD4

GSD IV

APBD

Study ID

NCT02683512

Start date

Dec, 2015

Status verified date

May, 2026

Completion date

Dec, 2035

Anticipated

Primary completion date

Dec, 2035

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Not accepted

  • 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
  • Histology as confirmed by clinician

Study Design

Enrollment

200 participants

Anticipated

Interventions and Outcome Measures

Interventions

No intervention

This is an observational study that consists of data abstraction from patient medical records.

Primary outcome measure

  • Progression of disease [ Time Frame: Duration of study, approximately 10 years ]

Central Contacts and Locations

Central contacts

Rebecca L Koch, PhD, RDN

919-681-8823rebecca.koch@duke.edu

Nisha Dalal, M.S. CCC-SLP

919-668-3107nisha.dalal@duke.edu

Locations

Duke University Medical Center

Recruiting

Durham, North Carolina, United States, 27710

Contacts

Rebecca L Koch, PhD, RDN

919-681-8823rebecca.koch@duke.edu

Nisha Dalal, M.S. CCC-SLP

919-668-3107nisha.dalal@duke.edu

Principal Investigator:

Priya S Kishnani, MD

More Information

Sponsor

Duke University

Last update posted

May 5, 2026

Last verified

May, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Duke University on 2026-05-05.