Actively Recruiting
Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders (Project PENGUIN)
Led by University of Missouri-Columbia · Updated on 2026-01-09
100
Participants Needed
1
Research Sites
156 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders (Project PENGUIN)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosed or suspected neurogenetic disorder
- Age between 0 and 99 years
- For control caregivers: No history of neurological disorder
- For control caregivers: Age over 18 years
- For control caregivers: Legal caregiver of a patient with a rare neurodevelopmental disorder
You will not qualify if you...
- Unwilling or unable to complete visits with the study team
- For control caregivers: History of neurological disorders
- For control caregivers: Under 18 years old
- Known disease associated with poor wound healing for those participating in skin biopsy
- History of allergic reaction to lidocaine for those participating in skin biopsy
- Medical history of cellulitis, diabetes mellitus, poor circulation in limbs, deep vein thrombosis, or non-traumatic amputation for those participating in skin biopsy
- Currently taking anticoagulation or taken anticoagulants in the last 6 months for those participating in skin biopsy
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
University of Missouri - Columbia
Columbia, Missouri, United States, 65201
Actively Recruiting
Research Team
S
Sophia R Marchetti
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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