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

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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
• Email: sophiamarchetti@health.missouri.edu
• Phone: 573-882-6720

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.