GBE Deficiency (GSD IV and APBD) Natural History Study

NCT02683512 | Recruiting

• 1 other identifier: Pro00060753
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 1

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

Outcome Measures

Primary Outcomes (1)

• Progression of disease

  Duration of study, approximately 10 years

Interventions

No intervention OTHER

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

Eligibility Criteria

• Age: 0 Years - 90 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

All patients with GBE deficiency, diagnosed as GSD IV or APBD, regardless of gender or ethnicity, are eligible for enrollment.

* 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

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

• Duke University: lead

Study Sites (1)

Duke University Medical Center

Durham, North Carolina, 27710, United States

RECRUITING

Related Publications (1)

• Koch RL, Kiely BT, Choi SJ, Jeck WR, Flores LS, Sood V, Alam S, Porta G, LaVecchio K, Soler-Alfonso C, Kishnani PS. Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model. JCI Insight. 2024 May 14;9(12):e177722. doi: 10.1172/jci.insight.177722.

  PMID: 38912588 DERIVED

MeSH Terms

Conditions

Glycogen Storage Disease Type IV; Polyglucosan Body Disease, Adult Form

Condition Hierarchy (Ancestors)

Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Priya Kishnani, MD

  Duke University

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Rebecca L Koch, PhD, RDN

CONTACT

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

Nisha Dalal, M.S. CCC-SLP

CONTACT

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

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Target Duration: 20 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 4, 2016
• First Posted: February 17, 2016
• Study Start: December 1, 2015
• Primary Completion (Estimated): December 1, 2035
• Study Completion (Estimated): December 1, 2035
• Last Updated: May 5, 2026

Record last verified: 2026-05

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)