RecruitingNCT02683512
GBE Deficiency (GSD IV and APBD) Natural History Study
Sponsor
Duke University
Enrollment
200 participants
Start Date
Dec 1, 2015
Study Type
OBSERVATIONAL
Conditions
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.
Eligibility
Min Age: 0 YearsMax Age: 90 Years
Inclusion Criteria8
- 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
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Interventions
OTHERNo intervention
This is an observational study that consists of data abstraction from patient medical records.
Locations(1)
View Full Details on ClinicalTrials.gov
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NCT02683512