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

University of Missouri-Columbia · NCT07329257

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Opens the official ClinicalTrials.gov record, with the study team’s contacts. Bored Studies doesn’t enroll anyone.

Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Up to age 99 · All sexes
Healthy volunteers
Accepted
Study type
Observational
Target enrollment
100
US sites recruiting
1
Study start
December 4, 2025
Record last updated
January 9, 2026

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study 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.

Being studied: No Intervention: Observational Cohort

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

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full criteria

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

Recruiting US locations

  • University of Missouri - Columbia

    Columbia, MO 65201

    Site contact: Sophia R Marchetti · 573-882-6720 · sophiamarchetti@health.missouri.edu

Study contacts (from the official record)

  • Sophia R Marchetti · 573-882-6720 · sophiamarchetti@health.missouri.edu
All neurology studies in Missouri →
Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in… (NCT07329257) | Bored Studies