GBE Deficiency (GSD IV and APBD) Natural History Study

Launched by DUKE UNIVERSITY · Feb 16, 2016

Keywords

ClinConnect Summary

This clinical trial is studying a condition called glycogen branching enzyme (GBE) deficiency, which can lead to two specific diseases: Glycogen Storage Disease Type IV (GSD IV) and Adult Polyglucosan Body Disease (APBD). The goal of the study is to collect and review information about patients with these conditions during their clinic visits. This will help researchers understand how GBE deficiency affects individuals over time.

Anyone diagnosed with GSD IV or APBD might be eligible to participate, including people of any age and gender. To qualify, participants need to have specific genetic changes related to the condition or show signs of the disease based on a doctor’s assessment. Participants must be able to give consent for themselves or have a legal representative do so for them. If you join the study, you can expect to share your medical history and possibly undergo some assessments during your clinic visits. This research could be important for improving understanding and treatment options for these rare diseases.

Gender

ALL

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 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