Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders (Project PENGUIN)
Recruiting now
Conditions studied: Baker Gordon Syndrome, Rare Neurodevelopmental Conditions, Rare Neurogenetic Conditions, Syt-1 Disorder, Epilepsy, Seizure, Genetic Mutations, Autism in Children, Developmental Delay (Disorder)
In brief
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.
Key facts
- Study ID
- NCT07329257
- Run by
- University of Missouri-Columbia
- People needed
- 100
- Starts
- 2025-12-04
- Expected to finish
- 2028-12-01
- Last updated by the study team
- 2026-01-09
Who can join
Age: any, up to 99. Sex: any. Healthy volunteers: accepted.
You may qualify if…
- Diagnosed or suspected neurogenetic disorder
- Individuals 0-99
You may not qualify if…
- 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
Where it is running
- University of Missouri - Columbia — Columbia, Missouri, United States (enrolling)
Full record on ClinicalTrials.gov
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