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Project PENGUIN: Understanding Rare Neurodevelopmental Disorders

This study, called Project PENGUIN, is looking into rare neurodevelopmental disorders like Baker Gordon Syndrome and Syt-1 Disorder. These conditions are caused by changes in genes that affect how the brain develops and works, leading to symptoms like developmental delays and seizures. This is an observational study, meaning there are no interventions or treatments being tested. Researchers want to understand how these disorders progress over time, identify markers (like genetic changes or brain imaging results) that show how severe the disease is, and create cell models to study the disorders further. You can join if you are 0-99 years old and have a diagnosed or suspected neurogenetic disorder. Control parents/caregivers over 18 without a neurological disorder can also participate. The study aims to enroll 100 participants.

Study design
This is an observational study, meaning no interventions are given. It plans to include 100 participants of all ages and genders.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
Participants will be followed to observe disease patterns, symptom evolution, and progression severity for 3 years. Biomarkers will also be identified and validated over 3 years.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT07329257

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

Recruiting
Not specifiedUp to 99Observational
University of Missouri-Columbia
~100 participants
Updated 2026-01-09 on ClinicalTrials.gov
What's tested:No Intervention: Observational Cohort

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Disease onset patterns, symptom evolution, and progression severity in rare neurodevelopmental disorders
Measured over 3 years
+2 more outcomes measured

Conditions

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

Explore related trials

AutismDevelopmental DelayInfantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndromeSeizure DisorderSyt-1 Disorder

Where it's being run

1 sites across 1 states
Missouri1

Study leadership

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

Who to contact

Sophia R Marchetti
[email protected]
573-882-6720
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

Diagnosed or suspected neurogenetic disorder
Individuals 0-99
No history of a neurological disorder.
\>18 years.
Legal caregiver of the patient diagnosed with a rare neurodevelopmental disorder.

Exclusion

Individuals unwilling or unable to complete visits with the study team.
Individuals unwilling or unable to complete the visit with the study team.
Individuals who have a history of neurological disorders.
\< 18 years old
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

What this trial measures

  • Disease onset patterns, symptom evolution, and progression severity in rare neurodevelopmental disorders3 years
  • Identify and validate biomarkers (genetic, imaging, and physiological) that correlate with disease severity and progression3 years
  • Establish patient-derived and control cell lines (e.g., fibroblasts, induced pluripotent stem cells) to generate model systems for mechanistic studies and pre-clinical evaluation of potential therapies3 years