Project PENGUIN: Profiling phenotypic, epigenetic, and neurogenetic traits in rare neurodevelopmental disorders

Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders

This project will try to collect clinical data, genetic and epigenetic samples, imaging, and skin-derived cell models from people with rare neurogenetic disorders like SYT1/BAGOS to help track disease and support future treatments.

Quick facts

• Study type: Observational
• Enrollment: 100 (estimated)
• Ages: N/A to 99 Years
• Sex: All
• Sponsor: University of Missouri-Columbia (other)
• Locations: 1 site (Columbia, Missouri)
• Trial ID: NCT07329257 on ClinicalTrials.gov

What this trial studies

Project PENGUIN is an observational natural history program that gathers clinical information, genetic and epigenetic data, imaging, physiological measures, and biosamples from individuals with rare neurodevelopmental and neurogenetic disorders. The study may include skin biopsies to generate patient-derived cellular models and links these laboratory resources with detailed clinical phenotyping. Researchers will analyze integrated datasets to identify biomarkers of disease severity and progression and to improve diagnostic precision. Collected data and models are intended to create shared resources to enable and accelerate future therapeutic trials.

Who should consider this trial

Good fit: Ideal participants are individuals of any age with a diagnosed or suspected rare neurogenetic or neurodevelopmental disorder (for example SYT1/BAGOS), with caregiver controls enrolled as appropriate for comparison.

Not a fit: People without a neurogenetic diagnosis, those unable or unwilling to complete study visits, or individuals with medical contraindications to biopsy may not receive direct benefit from participation.

Why it matters

Potential benefit: If successful, the project could identify biomarkers and create patient-derived models that speed diagnosis and enable more targeted clinical trials for these rare disorders.

How similar studies have performed: Natural history and biomarker studies in other rare neurogenetic conditions have produced useful diagnostic markers and trial-ready measures, but SYT1/BAGOS-specific data remain limited so parts of this work are novel.

Eligibility 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

Where this trial is running

Columbia, Missouri

• University of Missouri - Columbia — Columbia, Missouri, United States (RECRUITING)

Study contacts

• Principal investigator: W. David Arnold, MD — University of Missouri-Columbia
• Study coordinator: Sophia R Marchetti

Conditions: Baker Gordon Syndrome, Rare Neurodevelopmental Conditions, Rare Neurogenetic Conditions, Syt-1 Disorder, Epilepsy, Seizure, Genetic Mutations, Autism in Children