Observing the characteristics of CNKSR2 epilepsy and intellectual disability in children

Natural History Study of Infants and Children With CNKSR2-Associated Neurodevelopmental Disorders and Epilepsy

This study looks at the behaviors and development of children with CNKSR2 mutations and epilepsy to help create better treatments for their seizures and learning challenges.

Quick facts

• Study type: Observational
• Enrollment: 15 (estimated)
• Ages: 6 Years to 21 Years
• Sex: All
• Sponsor: University of California, San Francisco (Academic / other)
• Locations: 1 site (San Francisco, California)
• Trial ID: NCT06500260 on ClinicalTrials.gov

What this trial studies

This observational study aims to define the electroclinical, neurodevelopmental, and behavioral characteristics of children aged 6 to 21 years with CNKSR2 mutations, specifically focusing on those with epilepsy aphasia syndrome and intellectual disability. By collecting detailed data, the study will create an external control group for future clinical trials that will test precision medicine therapies aimed at improving seizure control and developmental outcomes. The study will involve participants who meet specific genetic and developmental criteria, ensuring a focused approach to understanding this rare condition.

Who should consider this trial

Good fit: Ideal candidates for this study are children aged 6 to 21 years with confirmed CNKSR2 mutations and associated developmental delays or intellectual disabilities.

Not a fit: Patients with mutations in other seizure-associated genes or significant structural brain abnormalities unrelated to CNKSR2 will not benefit from this study.

Why it matters

Potential benefit: If successful, this study could provide critical insights that lead to improved treatment options for children with CNKSR2-related epilepsy and intellectual disabilities.

How similar studies have performed: While this study focuses on a specific genetic mutation, similar observational studies have successfully contributed to understanding rare genetic conditions and their treatment pathways.

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 (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.

Where this trial is running

San Francisco, California

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

Study contacts

• Principal investigator: Alex Fay, MD, PhD — [e-mail]
• Study coordinator: Alex Fay, MD, PhD

Conditions Developmental Dysphasia; Epileptic Encephalopathy, Childhood-Onset; X-Linked Intellectual Disability; X-linked Intellectual Disability; ESES; CSWS; CNKSR2; Epilepsy