Studies rare brain development disorders to learn how they progress
Observes people with rare genetic brain disorders, including Syt-1 disorder and Baker Gordon Syndrome.
Plain-language title generated from the registry record
Registry title: Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders (Project PENGUIN)
Key facts
- Where
- Columbia, United StatesSee the site
Where in United States
- University of Missouri - ColumbiaColumbia, United StatesTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- University of Missouri-Columbia
- Trial code
- NCT07329257
- Record updated
- 9 January 2026
- Original description
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.Read full original descriptionShow less
Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders
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.
Inclusion: 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.
Exclusion: Currently taking anticoagulation or have taken with last 6 months; 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; < 18 years old; For all individuals who participate in the skin biopsy:; Individuals unwilling or unable to complete the visit with the study team.
For those with a rare condition:.