Home › NCT02683512

GBE Deficiency (GSD IV and APBD) Natural History Study

Who can join

Ages 0 to 90 · All sexes

* 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

About the study

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.

What is being tested

• No intervention (other)

Sponsor: Duke University · Participants: 200 · Started: 2015-12

Contact the study team

• Rebecca L Koch, PhD, RDN · Phone: 919-681-8823
• Nisha Dalal, M.S. CCC-SLP · Phone: 919-668-3107

Official record on ClinicalTrials.gov — NCT02683512

Locations in the U.S.

From ClinicalTrials.gov, data retrieved Oct 1, 2026. Each study sets its own eligibility; the study team decides who can join.