CNKSR2 Natural History Study
Recruiting
Observational Study
Developmental Dysphasia
Epileptic Encephalopathy, Childhood-Onset
X-Linked Intellectual Disability
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- 6 – 21
- Sex
- Any
- Study type
- Observational
- Participants needed
- 15 (estimated)
- Sponsor
- University of California, San Francisco · Other
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About This Trial
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 …
Trial Locations
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Eligibility Criteria
Inclusion Criteria:
1. Age between 6 and 21 years (inclusive) at time of consent.
2. Confirmed CNKSR2 mutation, as demonstrated by genetic testing and confirmed by the investigators.
3. Confirmed intellectual disability or developmental delays, as defined by the American Academy of Pediatrics (Moes…
Contacts