GBE Deficiency (GSD IV and APBD) Natural History Study

Status: Recruiting
Location: See location...
Intervention Type: Other
Study Type: Observational [Patient Registry]
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
Participation Requirements
Sex: All
Maximum Age: 90
Healthy Volunteers: No
View:

• 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

Locations
United States
North Carolina
Duke University Medical Center
Recruiting
Durham
Contact Information
Primary
Rebecca L Koch, PhD, RDN
rebecca.koch@duke.edu
919-681-8823
Backup
Leticia Flores
leticia.flores@duke.edu
919-660-7269
Time Frame
Start Date: December 2015
Estimated Completion Date: December 2025
Participants
Target number of participants: 200
Authors
Priya S Kishnani, Loren Pena
Sponsors
Leads: Duke University

This content was sourced from clinicaltrials.gov

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