SCN2A EEG Observational Study Protocol Overview

This fully remote observational study is collecting additional information in pediatric participants with early-onset SCN2A-developmental and epileptic encephalopathy in the United States.

Study objectives

Primary

  •  To characterize and quantify electrographic seizure burden, IEDs, and background EEG features and changes over time in pediatric participants with early-onset SCN2A-DEE

Secondary

  • To characterize the effects of age and SCN2A variant on clinical seizures and EEG-based outcome measures in pediatric participants with SCN2A-related early-onset DEE
  • To characterize the health status in pediatric participants with SCN2A-related early-onset DEE
  • To characterize the association between age at seizure onset and SCN2A variant characterization in pediatric participants with early-onset SCN2A-DEE
  • To characterize the association between seizures captured via seizure diary and electrographic seizures, IEDs, and background EEG features
  • To characterize the association between ASMs, EEG features, and seizures captured via seizure diary

Exploratory

  • To characterize the association between seizures captured via seizure diary and those automatically detected via a wearable device
  • To characterize and evaluate changes in physiologic variables using a wearable device

Eligibility

  • Inclusion criteria:
    • Males or females, ages ≥1 to ≤16 years old
    • Residents of the United States
    • Diagnosed with SCN2A variant through genetic testing
    • Had seizure onset within the first month of life
    • Had 8 or more motor seizures in the last 4 weeks
  • Exclusion criteria:
    • Has any significant ongoing disease, disorder, laboratory abnormalities, alcohol or drug abuse or dependence, environmental factor, or any ongoing or history of any psychiatric, medical, or surgical condition that in the judgment of the investigator in consultation with the medical monitor and/or sponsor’s designee, might jeopardize the participant’s safety; impact the clinical study scientific objectives; or interfere with participation in the clinical study
    • Has a clinically significant genetic variant other than an SCN2A variant that may explain or contribute to the participant’s epilepsy and/or developmental disorder
    • Has any other or additional etiology for epilepsy and/or DEE (eg, cortical dysplasia, encephalomalacia, etc) in the opinion of the investigator
    • Has received any experimental or investigational drug within 30 days or 5 half-lives (whichever is longer) prior to Screening.

Study assessments

A fully remote study design will allow for all assessments to be completed in the home setting:

  • Video EEG
  • Electronic seizure diary (completed by caregiver)
  • Wearable device to collect seizure information and vital signs

Refer Patient

Help us learn more about SCN2A by referring patients to participate in the SCN2A EEG Observational Study.