CNKSR2 Natural History Study

Running, not enrolling

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

In brief

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 facts

Study ID

NCT06500260

Run by

University of California, San Francisco

People needed

20

Starts

2022-01-01

Expected to finish

2028-12-31

Last updated by the study team

2026-07-23

Who can join

Age: 6 and older, up to 21. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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).

You may not qualify if…

• 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.

Where it is running

• University of California, San Francisco (UCSF) — San Francisco, California, United States

Full record on ClinicalTrials.gov

Trial information comes from ClinicalTrials.gov and is refreshed daily. TrialsForMe does not provide medical care and does not run the studies it lists.