CNKSR2 Natural History Study

University of California San Francisco (UCSF)

Status: Enrolling

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

Study type: Observational

Funder types: Other

Identifiers

NCT06500260

22-35959

Details and patient eligibility

About

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.

Enrollment: 15 estimated patients

Sex: All

Ages: 6 to 21 years old

Volunteers: No Healthy Volunteers

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 (Moeschler, J, et al. 2014).

Exclusion criteria

1. Known pathogenic or clinically suspected mutation in a seizure-associated gene besides CNKSR2.
2. Confirmed mutation in a gene besides CNKSR2 that is known to increase the severity of the seizure phenotype.
3. 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.