CNKSR2 Natural History Study
Part of paid clinical trials in San Francisco, California.
- Sponsor
- University of California, San Francisco
- Study ID
- NCT06500260
- Status
- Recruiting
Conditions
- Developmental Dysphasia
- Epileptic Encephalopathy, Childhood-Onset
- X-Linked Intellectual Disability
Eligibility Criteria
- Sex
- ALL
- Age
- 6 Years - 21 Years
- Healthy Volunteers
- Not accepted
Study Details
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.
Key Dates
- Start date
- Jan 1, 2022
- Status verified
- Jul 2024
- Primary completion
- Dec 31, 2025
- Completion
- Dec 31, 2025
Study Design
- Enrollment
- 15 participants (estimated)
Primary Outcome Measure
Change from baseline in functional connectivity within the epileptiform network using resting-state functional magnetic resonance imaging (fMRI). [ Time Frame: Baseline, Month 12, Month 24 ]
Central Contacts
- Alex Fay, MD, PhD415-353-7596
- Maya Dhar, MS415-353-9465
Locations (1)
| Facility | City | State | ZIP | Site coordinators |
|---|---|---|---|---|
| University of California, San Francisco (UCSF) | San Francisco | California | 94158 | Alex Fay, MD, PhD (PRINCIPAL_INVESTIGATOR) Danilo Bernardo, MD (SUB_INVESTIGATOR) |