Status:
RECRUITING
CNKSR2 Natural History Study
Lead Sponsor:
University of California, San Francisco
Conditions:
Developmental Dysphasia
Epileptic Encephalopathy, Childhood-Onset
Eligibility:
All Genders
6-21 years
Brief 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 d...
Eligibility Criteria
Inclusion
- Age between 6 and 21 years (inclusive) at time of consent.
- Confirmed CNKSR2 mutation, as demonstrated by genetic testing and confirmed by the investigators.
- Confirmed intellectual disability or developmental delays, as defined by the American Academy of Pediatrics (Moeschler, J, et al. 2014).
Exclusion
- Known pathogenic or clinically suspected mutation in a seizure-associated gene besides CNKSR2.
- Confirmed mutation in a gene besides CNKSR2 that is known to increase the severity of the seizure phenotype.
- Known central nervous system structural abnormality confirmed by imaging scan of the brain that is not consistent with the clinical phenotype of CNKSR2 EAS / ID.
Key Trial Info
Start Date :
January 1 2022
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 31 2025
Estimated Enrollment :
15 Patients enrolled
Trial Details
Trial ID
NCT06500260
Start Date
January 1 2022
End Date
December 31 2025
Last Update
July 15 2024
Active Locations (1)
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1
University of California, San Francisco (UCSF)
San Francisco, California, United States, 94158