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

Status: Recruiting
Location: See location...
Intervention Type: Other
Study Type: Observational
SUMMARY

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.

Eligibility
Participation Requirements
Sex: All
Maximum Age: 99
Healthy Volunteers: t
View:

• 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.

Locations
United States
Missouri
University of Missouri - Columbia
RECRUITING
Columbia
Contact Information
Primary
Sophia R Marchetti
sophiamarchetti@health.missouri.edu
573-882-6720
Time Frame
Start Date: 2025-12-04
Estimated Completion Date: 2028-12
Participants
Target number of participants: 100
Sponsors
Leads: University of Missouri-Columbia

This content was sourced from clinicaltrials.gov