NCT07329257Recruiting
Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders (Project PENGUIN)
Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders
Source: ClinicalTrials.gov · Last updated 9 Jan 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 100 (estimated)
- First submitted
- 10 Dec 2025
- Start date
- 4 Dec 2025
- Primary completion date
- Dec 2028
- Lead sponsor
- University of Missouri-Columbia
- NCT number
- NCT07329257
What you commit to
- Study type: Observational
- Planned participants: 100
- From 4 Dec 2025 to the primary completion date, Dec 2028
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Prior treatment
- Currently taking anticoagulation or have taken with last 6 months
Other illness
- Individuals unwilling or unable to complete visits with the study team.
- For control parents/caregivers of those with a rare condition:
- Individuals who have a history of neurological disorders.
- 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.
Age
- \< 18 years old
- For all individuals who participate in the skin biopsy:
Other
- Individuals unwilling or unable to complete the visit with the study team.
Who the study is looking for
- Diagnosed or suspected neurogenetic disorder
- Individuals 0-99
- No history of a neurological disorder.
- \>18 years.
- Legal caregiver of the patient diagnosed with a rare neurodevelopmental disorder.
Criteria the registry did not label
- For those with a rare condition:
Age in the registry: - to 99 years · Sex: All · Accepts healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| University of Missouri - Columbia Coordinator of this site? Confirm its status | Columbia | United States | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.