CNKSR2 Natural History Study
NCT06500260 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 15
Last updated 2024-07-15
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
Sponsors & Collaborators
-
University of California, San Francisco
lead OTHER
Principal Investigators
-
Alex Fay, MD, PhD · [email protected]
Eligibility
- Min Age
- 6 Years
- Max Age
- 21 Years
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2022-01-01
- Primary Completion
- 2025-12-31
- Completion
- 2025-12-31
Countries
- United States
Study Locations
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