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

Part of paid clinical trials in Columbia, Missouri.

Sponsor
University of Missouri-Columbia
Study ID
NCT07329257
Status
Recruiting
Apply to this trial

Conditions

  • Autism in Children
  • Baker Gordon Syndrome
  • Developmental Delay (Disorder)
  • Epilepsy
  • Genetic Mutations
  • Rare Neurodevelopmental Conditions
  • Rare Neurogenetic Conditions
  • Seizure
  • Syt-1 Disorder

Eligibility Criteria

Sex
ALL
Age
N/A - 99 Years
Healthy Volunteers
Accepted

Interventions

  • No Intervention: Observational Cohort — OTHER
    There is no intervention for this Natural History Study

Study Details

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 Dates

Start date
Dec 4, 2025
Status verified
Dec 2025
Primary completion
Dec 31, 2028
Completion
Dec 31, 2028

Study Design

Enrollment
100 participants (estimated)

Primary Outcome Measure

Disease onset patterns, symptom evolution, and progression severity in rare neurodevelopmental disorders [ Time Frame: 3 years ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
University of Missouri - ColumbiaColumbiaMissouri65201
Sophia R Marchetti
[email protected]
573-882-6720
W. David Arnold
[email protected]
(573) 884-2924
W. David Arnold (PRINCIPAL_INVESTIGATOR)

Find similar trials in Columbia, MO

By condition
Epilepsy
By specialty
NeurologyBrain disorders
By research site
University of Missouri - Columbia· Columbia, MO

Related Studies