This prospective observational study is designed to assess the individualized baseline disease burden in pediatric participants aged 1 year to 16 years, with early-onset SCN2A-DEE by characterizing and quantifying changes in clinical features over a period of up to 12 months.
Study Type
OBSERVATIONAL
Enrollment
5
Praxis Research Site
Atlanta, Georgia, United States
Assess disease burden and any variation in disease progression over time, as reflected by electrographic seizures, interictal epileptiform discharges (IEDs), and spectral features, as measured on at-home video electroencephalograms (vEEGs)
Time frame: Up to 12 months
Changes in clinical seizures captured via seizure diary and EEG-based outcome measures as a function of age and SCN2A variant
Clinical seizures will be captured via seizure diary and a vEEG will be performed to record brainwave activity. The change in mean seizure frequency per 28 days and changes in mean vEEG measures (including, but not limited to, background frequency, slowing, epileptiform activity, sleep architecture, and seizures) will both be calculated and evaluated as a function of age and SCN2A variant.
Time frame: Up to 12 months
Intercurrent events as a function of age, SCN2A variant, and medications
Intercurrent event assessment will include "since last visit" open-ended questions for the parent/guardian regarding changes in the participant's cognitive, social, and emotional development; sleep, motor, or other disease-related symptoms; and any healthcare visits or hospitalizations (whether or not related to the participant's SCN2A-DEE). Any untoward medical occurrence that is not study procedure related will be recorded, not as an adverse event (AE), but as an intercurrent event. Intercurrent events will be evaluated as a function of age, SCN2A variant, and medication history.
Time frame: Up to 12 months
Association between age at seizure onset and dynamic clamp-based SCN2A variant characterization
Assessment of medical history will be evaluated as a function of SCN2A variant characterization and age of seizure onset.
Time frame: Up to 12 months
Frequency of seizures captured via seizure diary and EEG features at each timepoint and longitudinally
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The change in mean seizure frequency and change in mean vEEG measures (including, but not limited to, background frequency, slowing, epileptiform activity, sleep architecture, and seizures) will be reported at each timepoint and longitudinally.
Time frame: Up to 12 months
Association between EEG features and seizures captured via seizure diary
The change in mean seizure frequency per 28 days will be evaluated as a function of changes in mean vEEG measures (including, but not limited to, background frequency, slowing, epileptiform activity, sleep architecture, and seizures).
Time frame: Up to 12 months