Elsunersen treatment for infants with early-onset SCN2A-related epileptic encephalopathy
A Randomized, Multi-Center, Double-Blind, Sham-Procedure-Controlled Clinical Trial to Investigate the Efficacy and Safety of Elsunersen in Pediatric Participants With Early Onset SCN2A Developmental and Epileptic Encephalopathy
This trial tests whether elsunersen can reduce seizures and is safe in infants and young children with early-onset SCN2A-related developmental and epileptic encephalopathy who have gain-of-function variants.
Quick facts
| Phase | Phase 3 |
|---|---|
| Study type | Interventional |
| Enrollment | 50 (estimated) |
| Ages | 1 Day to 18 Years |
| Sex | All |
| Sponsor | Praxis Precision Medicines Industry-sponsored |
| Locations | 4 sites (San Diego, California and 3 other locations) |
| Trial ID | NCT07019922 on ClinicalTrials.gov |
What this trial studies
This is a randomized, multi-center, double-blind, sham-procedure-controlled Phase 3 trial comparing two doses of elsunersen (1 mg and 0.5 mg) versus a sham procedure in pediatric participants with early-onset SCN2A-DEE. Eligible participants must have a confirmed gain-of-function SCN2A variant, seizure onset before 3 months of age, and at least 4 countable motor seizures per 28 days during baseline. Participants are randomized to one of the intervention arms and followed with regular visits to track seizure counts and monitor safety and adverse events. The trial will compare changes in seizure frequency and safety signals between the elsunersen dose groups and the sham control over the treatment period.
Who should consider this trial
Good fit: Children with a genetically confirmed gain-of-function SCN2A variant, seizure onset before 3 months of age, and at least 4 countable motor seizures per 28 days during baseline are the intended participants.
Not a fit: Patients without a gain-of-function SCN2A variant, with seizure onset after 3 months, with fewer than 4 countable motor seizures per 28 days, or who have disqualifying comorbid genetic diagnoses or certain medical conditions (for example bone, spine, or bleeding disorders) may not benefit or be eligible.
Why it matters
Potential benefit: If successful, elsunersen could lower seizure frequency and improve clinical outcomes for children with gain-of-function SCN2A-related encephalopathy.
How similar studies have performed: Antisense and similar genetic-targeted therapies have shown success in other neurological genetic diseases, but application specifically to SCN2A gain-of-function epilepsy is relatively novel and limited in published clinical experience.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
San Diego, California and 3 other locations
- Praxis Research Site — San Diego, California, United States (Recruiting)
- Praxis Research Site — Chicago, Illinois, United States (Recruiting)
- Praxis Research Site — Porto Alegre, Brazil (Recruiting)
- Praxis Research Site — São Paulo, Brazil (Recruiting)
Study contacts
- Study coordinator: Head of Pharmacovigilance
- Email: clinicaltrials@praxismedicines.com
- Phone: 617-300-8460
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.