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Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders (Project PENGUIN)

Recruitingn/aAges any - 99 YearsAllUniversity of Missouri-Columbia
NCT07329257 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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 mo

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📋 Eligibility rules (as published)
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
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What it tests

  • No Intervention: Observational Cohort
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Where

1 site
University of Missouri - Columbia
Columbia, United States
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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