| NCT ID | NCT04454216 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Duke University |
| Condition | Glycogen Storage Disease VI |
| Study Type | OBSERVATIONAL |
| Enrollment | 400 participants |
| Start Date | 2020-09-18 |
| Primary Completion | 2030-01-01 |
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 400 participants in total. It began in 2020-09-18 with a primary completion date of 2030-01-01.
⚠ 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
Collection and review of clinical information related to Glycogen Storage Disease Type VI (GSD VI) OR Glycogen Storage Disease Type IX (GSD IX) generated during clinic visits.
Eligibility 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
Contact & Investigator
Priya Kishnani, MD
PRINCIPAL INVESTIGATOR
Duke University
Frequently Asked Questions
Who can join the NCT04454216 clinical trial?
This trial is open to participants of all sexes, aged 0 Years or older, up to 90 Years, studying Glycogen Storage Disease VI. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT04454216 currently recruiting?
Yes, NCT04454216 is actively recruiting participants. Contact the research team at rebecca.koch@duke.edu for enrollment information.
Where is the NCT04454216 trial being conducted?
This trial is being conducted at Durham, United States.
Who is sponsoring the NCT04454216 clinical trial?
NCT04454216 is sponsored by Duke University. The principal investigator is Priya Kishnani, MD at Duke University. The trial plans to enroll 400 participants.