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

NCT07329257 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 100

Last updated 2026-01-09

No results posted yet for this study

Summary

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

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

Interventions

OTHER

No Intervention: Observational Cohort

There is no intervention for this Natural History Study

Sponsors & Collaborators

  • University of Missouri-Columbia

    lead OTHER

Principal Investigators

  • W. David Arnold, MD · University of Missouri-Columbia

Eligibility

Max Age
99 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2025-12-04
Primary Completion
2028-12-31
Completion
2028-12-31

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07329257 on ClinicalTrials.gov