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Clinical Trial 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.


Clinical Trial Description

This natural history study will serve as a repository of clinical, laboratory, and biochemical information on individuals with GBE deficiency, diagnosed as either GSD IV or APBD. This information will allow a more definitive description of GBE deficiency to be developed, which will permit development of treatment strategies for this disease. Duke will be the only site where this study takes place. However, since this is a rare disorder, participants who receive care for GBE deficiency at other institutions will be included. We will collect retrospective data from patient charts on diagnosed individuals, as far back as necessary to capture the clinical course of the disorder. Prospective data collected from patient charts after enrollment will be captured as well. Participant's medical records will be continually reviewed for the duration of the study. Data will be collected from medical records and will only pertain to clinically relevant information, including, but not limited to: demographic and diagnostic information, tissue biopsy results, medical and family history, review of systems, imaging studies, results of liver, muscle, and nerve function testing, and urine and blood laboratory results. ;


Study Design


Related Conditions & MeSH terms


NCT number NCT02683512
Study type Observational [Patient Registry]
Source Duke University
Contact Rebecca L Koch, PhD, RDN
Phone 919-681-8823
Email rebecca.koch@duke.edu
Status Recruiting
Phase
Start date December 2015
Completion date December 2035

See also
  Status Clinical Trial Phase
Completed NCT00947960 - Triheptanoin Treatment Trial for Patients With Adult Polyglucosan Body Disease Phase 2
Active, not recruiting NCT02635269 - Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy N/A
Withdrawn NCT02385162 - Biomarker for Glycogen Storage Diseases (BioGlycogen)