RECRUITINGOBSERVATIONAL

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

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

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 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.

Who May Be Eligible (Plain English)

For those with a rare condition: Who May Qualify: - Diagnosed or suspected neurogenetic disorder - Individuals 0-99 Who Should NOT Join This Trial: - Individuals unwilling or unable to complete visits with the study team. For control parents/caregivers of those with a rare condition: Who May Qualify: - No history of a neurological disorder. - \>18 years. - Legal caregiver of the patient diagnosed with a rare neurodevelopmental disorder. Who Should NOT Join This Trial: - 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 Always talk to your doctor about whether this trial is right for you.

Original Eligibility Criteria

View original clinical language

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

Treatments Being Tested

OTHER

No Intervention: Observational Cohort

There is no intervention for this Natural History Study

Locations (1)

University of Missouri - Columbia

Columbia, Missouri, United States