NCT06500260

CNKSR2 Natural History Study

Natural History Study of Infants and Children With CNKSR2-Associated Neurodevelopmental Disorders and Epilepsy

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 15 (estimated)
• Sponsor: University of California, San Francisco · Academic / Other
• Sex: All
• Age: 6 Years – 21 Years
• Healthy volunteers: Not accepted

Summary

This prospective natural history study is being conducted to define the electroclinical, neurodevelopmental, and behavioral characteristics of CNKSR2 epilepsy aphasia syndrome (EAS) and intellectual disability (ID) in children aged 6 to 21 years old with CNKSR2 mutations. The data collected from this study will serve as an external control to eventual clinical trials examining precision medicine investigational therapeutics that aim to improve the seizure burden and neurodevelopmental outcomes in patients with CNKSR2 EAS/ID.

Conditions

• Developmental Dysphasia
• Epileptic Encephalopathy, Childhood-Onset
• X-Linked Intellectual Disability

Timeline

• Start date: 2022-01-01
• Primary completion: 2025-12-31
• Completion: 2025-12-31
• First posted: 2024-07-15
• Last updated: 2024-07-15

Locations

1 site across 1 country: United States