RecruitingNot Applicable

GBE Deficiency (GSD IV and APBD) Natural History Study

United States200 participantsStarted 2015-12

Plain-language 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.

Who can participate

Age range0 Years – 90 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

* 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

What they're measuring

Progression of disease

Timeframe: Duration of study, approximately 10 years

Trial details

NCT IDNCT02683512

SponsorDuke University

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2035-12

Contact for this trial

Rebecca L Koch, PhD, RDN

919-681-8823 rebecca.koch@duke.edu

View on ClinicalTrials.gov More Glycogen Storage Disease Type IV trials