GBE Deficiency (GSD IV and APBD) Natural History Study
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: No intervention.
- Who it may be relevant to
- Registry conditions: Glycogen Storage Disease Type IV, Adult Polyglucosan Body Disease, GSD4, GSD IV. Basic parameters: 0 years — 90 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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.
Interventions
- Other No intervention
This is an observational study that consists of data abstraction from patient medical records.
Primary outcome measures
- Progression of disease [Time frame: Duration of study, approximately 10 years]
Eligibility criteria
- 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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
United States · 1 center
- Duke University Medical Center — Durham
Publications
- 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
Identifiers
NCT: NCT02683512 · Pro00060753