NCT07329257 Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders (Project PENGUIN)
| NCT ID | NCT07329257 |
| Status | Recruiting |
| Phase | — |
| Sponsor | University of Missouri-Columbia |
| Condition | Baker Gordon Syndrome |
| Study Type | OBSERVATIONAL |
| Enrollment | 100 participants |
| Start Date | 2025-12-04 |
| Primary Completion | 2028-12 |
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 100 participants in total. It began in 2025-12-04 with a primary completion date of 2028-12.
⚠ 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
Rare genetic neurodevelopmental disorders, such as Syt-1 or Baker Gordon Syndrome (BAGOS) arise from mutations in genes essential for brain development and function, often disrupting neurotransmission and neuronal connectivity. These conditions present with a wide range of symptoms including developmental delays, seizures, motor and behavioral challenges, and vary widely in severity. These disorders are complex, and they remain poorly understood and lack effective treatments. Natural history and clinical genetic studies are crucial for mapping how these disorders progress, improving diagnostic accuracy, and guiding therapy development. A major focus is identifying reliable biomarkers (genetic, imaging, and physiological) to track disease severity and support clinical trials. This study will securely collect and analyze data to better understand disease impact, develop patient-derived model systems, and build resources to support future treatments.
Eligibility Criteria
For those with a rare condition: Inclusion Criteria: * Diagnosed or suspected neurogenetic disorder * Individuals 0-99 Exclusion Criteria: * Individuals unwilling or unable to complete visits with the study team. For control parents/caregivers of those with a rare condition: Inclusion Criteria: * No history of a neurological disorder. * \>18 years. * Legal caregiver of the patient diagnosed with a rare neurodevelopmental disorder. Exclusion Criteria: * Individuals unwilling or unable to complete the visit with the study team. * Individuals who have a history of neurological disorders. * \< 18 years old For all individuals who participate in the skin biopsy: * Individuals with disease that is known to be associated with poor wound healing. * Individuals with a history of allergic reaction to lidocaine. * Medical History of cellulitis, diabetes mellitus, poor extremity circulation, deep vein thrombosis, or a history of non-traumatic amputation. * Currently taking anticoagulation or have taken with last 6 months
Contact & Investigator
W. David Arnold, MD
PRINCIPAL INVESTIGATOR
University of Missouri-Columbia
Frequently Asked Questions
Who can join the NCT07329257 clinical trial?
This trial is open to participants of all sexes, up to 99 Years, studying Baker Gordon Syndrome. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT07329257 currently recruiting?
Yes, NCT07329257 is actively recruiting participants. Contact the research team at sophiamarchetti@health.missouri.edu for enrollment information.
Where is the NCT07329257 trial being conducted?
This trial is being conducted at Columbia, United States.
Who is sponsoring the NCT07329257 clinical trial?
NCT07329257 is sponsored by University of Missouri-Columbia. The principal investigator is W. David Arnold, MD at University of Missouri-Columbia. The trial plans to enroll 100 participants.