Natural history of Glycogen Storage Diseases VI and IX
GSD VI and GSD IX Natural History
This study is gathering health information from people with Glycogen Storage Diseases Type VI and IX to better understand these conditions and help improve treatment options.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 400 (estimated) |
| Ages | 0 Years to 90 Years |
| Sex | All |
| Sponsor | Duke University Academic / other |
| Locations | 1 site (Durham, North Carolina) |
| Trial ID | NCT04454216 on ClinicalTrials.gov |
What this trial studies
This observational study aims to collect and review clinical information related to Glycogen Storage Disease Type VI and Type IX from individuals during their clinic visits. It will serve as a repository of clinical, laboratory, and biochemical data, allowing for a more definitive understanding of glycogen phosphorylase and phosphorylase kinase deficiencies. The study will gather both retrospective and prospective data from patient charts, including demographic information, medical history, and laboratory results, to aid in the development of treatment strategies for these rare disorders.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with GSD VI or GSD IX who meet specific genetic and enzymatic criteria.
Not a fit: Patients who are unable to provide informed consent or do not have a confirmed diagnosis of GSD VI or GSD IX 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 Glycogen Storage Diseases VI and IX.
How similar studies have performed: While this study focuses on natural history, similar observational studies have successfully contributed to understanding rare diseases, suggesting potential for valuable insights.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Diagnosis of GSD VI or GSD IX via: * Two variants in the PYGL, PHKA1, PHKA2, PHKG1, PHKG2, or PHKB gene (or one variant with evidence of disease). Note: for males, one variant in the PHKA1 or PHKA2 gene is sufficient for inclusion. * Deficient GP activity or PhK activity per enzymology * Histology as confirmed by clinician * Pregnant women with a diagnosis of GSD VI or GSD IX will be included * 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 Exclusion criteria: * Unable to provide informed consent for participation for one's self or by legally authorized representative/legal guardian/parent
Where this trial is running
Durham, North Carolina
- Duke University — 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.