Actively Recruiting
GBE Deficiency (GSD IV and APBD) Natural History Study
Led by Duke University · Updated on 2026-05-05
200
Participants Needed
1
Research Sites
1043 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official Title
GBE Deficiency (GSD IV and APBD) Natural History Study
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosis of GSD IV or APBD confirmed by either two variants in the GBE1 gene, deficient GBE enzyme activity in tissue, or one variant in the GBE1 gene with clinical evidence of disease
- Ability to provide informed consent for self (adults) or on behalf of the affected individual (minors or adults with a legally authorized representative)
- Ability to provide consent for release of medical records
- Pregnant women diagnosed with GSD IV or APBD are eligible
- Histology confirmation as determined by a clinician
You will not qualify if you...
History of severe allergic reactions to study medication Currently pregnant or breastfeeding Recent participation in another clinical trial within the last 30 days Presence of uncontrolled medical conditions that could affect safety
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Duke University Medical Center
Durham, North Carolina, United States, 27710
Actively Recruiting
Research Team
R
Rebecca L Koch, PhD, RDN
CONTACT
N
Nisha Dalal, M.S. CCC-SLP
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here