CNKSR2 Natural History Study
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.
Conditions:
🦠 Developmental Dysphasia 🦠 Epileptic Encephalopathy, Childhood-Onset 🦠 X-Linked Intellectual Disability
🗓️ Study Start (Actual) 1 January 2022
🗓️ Primary Completion (Estimated) 31 December 2025
✅ Study Completion (Estimated) 31 December 2025
👥 Enrollment (Estimated) 15
🔬 Study Type OBSERVATIONAL
📊 Phase N/A
Locations:
📍 San Francisco, California, United States

📋 Eligibility Criteria

Description

    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.
Ages Eligible for Study: 6 Years to 21 Years (CHILD, ADULT)
Sexes Eligible for Study: ALL
Accepts Healthy Volunteers: No

🗓️ Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

  • First Submitted 1 March 2024
  • First Submitted that Met QC Criteria 11 July 2024
  • First Posted 15 July 2024

Study Record Updates

  • Last Update Submitted that Met QC Criteria 11 July 2024
  • Last Update Posted 15 July 2024
  • Last Verified July 2024