Natural history of GBE deficiency in GSD IV and APBD
GBE Deficiency (GSD IV and APBD) Natural History Study
This study is collecting health information from people with GBE deficiency to better understand how it affects them and help find better treatments in the future.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 200 (estimated) |
| Ages | 0 Years to 90 Years |
| Sex | All |
| Sponsor | Duke University Academic / other |
| Locations | 1 site (Durham, North Carolina) |
| Trial ID | NCT02683512 on ClinicalTrials.gov |
What this trial studies
This observational study collects and reviews clinical information related to glycogen branching enzyme (GBE) deficiency, specifically focusing on Glycogen Storage Disease Type IV (GSD IV) and Adult Polyglucosan Body Disease (APBD). It aims to create a comprehensive repository of clinical, laboratory, and biochemical data from individuals diagnosed with these conditions. The study will gather both retrospective and prospective data from medical records to better understand the clinical course of GBE deficiency and to aid in the development of future treatment strategies.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with GSD IV or APBD who can provide informed consent.
Not a fit: Patients without a confirmed diagnosis of GSD IV or APBD will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and treatment strategies for patients with GBE deficiency.
How similar studies have performed: While this approach is focused on a rare disorder, similar observational studies have successfully contributed to understanding other genetic conditions.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Durham, North Carolina
- Duke University Medical Center — Durham, North Carolina, United States (Recruiting)
Study contacts
- Principal investigator: Priya Kishnani, MD — Duke University
- Study coordinator: Rebecca L Koch, PhD, RDN
- Email: rebecca.koch@duke.edu
- Phone: 919-681-8823
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.