NCT06795152 Rare Glycogen Storage Diseases Natural History Study
| NCT ID | NCT06795152 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Duke University |
| Condition | Glycogen Storage Disease |
| Study Type | OBSERVATIONAL |
| Enrollment | 200 participants |
| Start Date | 2024-12-23 |
| Primary Completion | 2034-12 |
Eligibility & Interventions
Eligibility Fast-Check
Enter your details for a quick preliminary check. This does not replace medical advice.
What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 200 participants in total. It began in 2024-12-23 with a primary completion date of 2034-12.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
The purpose of this study is to collect and study key medical data about several ultra-rare GSDs (Glycogen Storage Diseases) including, but not limited to, GSD types 0a, 0b, VII, X, XII, XIII, XV, PRKAG2 syndrome and Danon disease.
Eligibility 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
Contact & Investigator
Priya Kishnani, M.D.
PRINCIPAL INVESTIGATOR
Duke
Frequently Asked Questions
Who can join the NCT06795152 clinical trial?
This trial is open to participants of all sexes, aged 0 Years or older, up to 90 Years, studying Glycogen Storage Disease. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06795152 currently recruiting?
Yes, NCT06795152 is actively recruiting participants. Contact the research team at rebecca.koch@duke.edu for enrollment information.
Where is the NCT06795152 trial being conducted?
This trial is being conducted at Durham, United States.
Who is sponsoring the NCT06795152 clinical trial?
NCT06795152 is sponsored by Duke University. The principal investigator is Priya Kishnani, M.D. at Duke. The trial plans to enroll 200 participants.