GBE Deficiency (GSD IV and APBD) Natural History Study
Recruiting
Observational Study
Glycogen Storage Disease Type IV
Adult Polyglucosan Body Disease
GSD4
GSD IV
APBD
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- 0 – 90
- Sex
- Any
- Study type
- Observational
- Participants needed
- 200 (estimated)
- Sponsor
- Duke University · Other
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About This Trial
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.
Trial Locations
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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 affec…
Contacts