Epileptic Encephalopathy, SCN2A Encephalopathy
Conditions
Keywords
epilepsis, early onset scn2a, epileptic encephalopathy, scn2a, gain of function, seizure
Brief summary
A Multi-Center, Single-Arm Clinical Trial to Investigate the Efficacy and Safety of Elsunersen in Pediatric Participants with Early Onset SCN2A Developmental and Epileptic Encephalopathy
Interventions
DRUG1mg elsunersen
24 weeks every 4 weeks intrathecally
DRUG0.5mg elsunersen
24 weeks every 4 weeks intrathecally
Sponsors
Praxis Precision Medicines
Study design
Allocation
NON_RANDOMIZED
Intervention model
SEQUENTIAL
Primary purpose
TREATMENT
Masking
NONE
Intervention model description
Specific milestones have to be met in Cohort 1 for enrollment to open in Cohort 2 and the same will apply to open Cohort 3.
Eligibility
Sex/Gender
ALL
Age
1 Days to 18 Years
Healthy volunteers
No
Inclusion criteria
* Has a documented Gain of Function SCN2A variant confirmed through genetic testing. * Has onset of seizures prior to 3 months of age. * Seizure frequency of 4 or more countable motor seizures per 28-day during the Baseline Observation Period.
Exclusion criteria
* Has any clinically significant or known pathogenic genetic variant other than in the SCN2A gene, or a genetic variant that may explain or contribute to the participant's epilepsy and/or developmental disorder. * Has bone, spine (eg, kyphosis, scoliosis), bleeding, or other disorder. * Has received any experimental or investigational drug, device, or other therapy within 30 days or 5 half-lives (whichever is longer) prior to Screening, including any prior use of gene therapy. * Is currently pregnant or breastfeeding or is planning to become pregnant during the clinical trial.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| To assess the efficacy of elsunersen on seizure frequency in participants with early-onset SCN2A DEE | 24 weeks | Median percent change in monthly (28 days) motor seizure frequency from baseline to treatment after 24 weeks |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| To assess secondary efficacy outcomes of elsunersen in participants with early-onset SCN2A DEE | 24 weeks | Responder rate - defined as a ≥50% reduction in monthly seizure frequency from baseline compared to treatment after 24 weeks |
| CGI-S change from baseline | 24 weeks | CGI-S assesses the clinician's impression of the participant's current illness state. The clinician should use his/her total clinical experience with this patient population and rate the current severity on a 7-point scale from 1 (normal, not at all ill) to 7 (among the most extremely ill patients). |
| CGI subdomain scores at each postdose time point | 24 weeks | Clinical Global Impression-Improvement (CGI-I) subdomains scores at each postdose time point |
| CgGI-S from baseline | 24 weeks | Caregiver Global Impression-Severity (CgGI-S) at baseline compared to treatment after 24 weeks |
| CgGI-I subdomain scores at each postdose time point | 24 weeks | Caregiver Global Impression-Improvement (CgGI I) subdomains scores at each postdose time point |
| Sleep assessment scores from baseline | 24 weeks | Sleep assessment scores at baseline compared to each postdose time point |
| To evaluate the safety and tolerability of elsunersen in participants with early-onset SCN2A DEE | 24 weeks | Incidence and severity of treatment-emergent adverse events (TEAEs) |
Countries
Brazil, Germany, Italy, United States
Contacts
CONTACTHead of Pharmacovigilance
STUDY_DIRECTORMedical Director
Praxis Precision Medicines
Outcome results
None listed