RecruitingNCT06500260

CNKSR2 Natural History Study

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

Sponsor

University of California, San Francisco

Enrollment

15 participants

Start Date

Jan 1, 2022

Study Type

OBSERVATIONAL

Conditions

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

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.

Eligibility

Min Age: 6 YearsMax Age: 21 Years

Plain Language Summary

Simplified for easier understanding

This clinical trial is studying a new treatment for people with developmental dysphasia, epileptic encephalopathy, childhood-onset, and other related conditions. The study is currently recruiting participants at 1 location.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Locations(1)

University of California, San Francisco (UCSF)

San Francisco, California, United States

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NCT06500260