Natural history study of rare glycogen storage diseases
Rare Glycogen Storage Diseases Natural History Study
This study is collecting health information from people with rare glycogen storage diseases to better understand their conditions and help improve future treatments.
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 | NCT06795152 on ClinicalTrials.gov |
What this trial studies
This observational study aims to collect and analyze medical data on several ultra-rare glycogen storage diseases (GSDs), including types 0A, 0B, VII, and others. The research will create a natural history database that compiles clinical, laboratory, and biochemical information from individuals diagnosed with these rare disorders. Data will be gathered retrospectively from patient charts and prospectively after enrollment, focusing on clinically relevant information such as demographics, diagnostic results, and medical history. The goal is to better characterize the different subtypes of GSDs and inform future treatment strategies.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with rare glycogen storage diseases such as GSD types 0A, 0B, VII, and others.
Not a fit: Patients who do not have a diagnosis of a rare glycogen storage disease or cannot provide informed consent will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and treatment options for patients with rare glycogen storage diseases.
How similar studies have performed: While this study focuses on rare diseases, similar approaches in collecting natural history data have shown promise in enhancing understanding and treatment of other rare conditions.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Diagnosis of a rare GSD, including 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome or Danon disease * Two variants in the gene associated with the specific GSD type (for autosomal recessive diseases) * One variant in the gene associated with the specific GSD type (for autosomal dominant or X-linked diseases) * Deficient enzyme activity in liver, muscle, skin fibroblast or other tissue * One variant in causative gene with evidence of disease, per a clinician * Histology as confirmed by a 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 a rare GSD will be included 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, M.D. — Duke
- Study coordinator: Rebecca 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.