Clinical Trial Details
— Status: Recruiting
Administrative data
NCT number |
NCT02683512 |
Other study ID # |
Pro00060753 |
Secondary ID |
|
Status |
Recruiting |
Phase |
|
First received |
|
Last updated |
|
Start date |
December 2015 |
Est. completion date |
December 2035 |
Study information
Verified date |
May 2024 |
Source |
Duke University |
Contact |
Rebecca L Koch, PhD, RDN |
Phone |
919-681-8823 |
Email |
rebecca.koch[@]duke.edu |
Is FDA regulated |
No |
Health authority |
|
Study type |
Observational [Patient Registry]
|
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.
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.