Investigating Phenotypic, Epigenetic, and NeuroGenetic Traits in Rare and Ultra-rare Neurodevelopmental Disorders (Project PENGUIN)
Recruiting
Observational Study
Baker Gordon Syndrome
Rare Neurodevelopmental Conditions
Rare Neurogenetic Conditions
Syt-1 Disorder
Epilepsy
Seizure
Genetic Mutations
Autism in Children
Developmental Delay (Disorder)
Healthy Volunteers Welcome
You do not need to have the condition being studied to take part.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- Up to 99
- Sex
- Any
- Study type
- Observational
- Participants needed
- 100 (estimated)
- Sponsor
- University of Missouri-Columbia · Other
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Check Your Eligibility
About This Trial
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 disorde…
Trial Locations
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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…
Contacts