Praxis Precision Medicines has announced positive topline results from its Phase 2 EMBOLD study, indicating that relutrigine significantly reduces seizure frequency in pediatric patients with SCN2A and SCN8A developmental and epileptic encephalopathies (DEE). The study demonstrated a 46% reduction in motor seizures and seizure freedom in 30% of patients treated with relutrigine compared to placebo.
Clinical Efficacy of Relutrigine
The randomized, double-blind, placebo-controlled trial assessed the efficacy of relutrigine in children with SCN2A and SCN8A-DEE. Patients in the relutrigine arm experienced a 46% reduction in motor seizures. Notably, 30% of patients achieved complete seizure freedom, a significant outcome in these difficult-to-treat epilepsies. An extended study phase showed a 75% reduction in seizures for enrolled patients.
Impact on Patient Well-being
Beyond seizure reduction, patients treated with relutrigine showed meaningful improvements in alertness, behavior, and communication. These improvements suggest a broader impact on the overall quality of life for children with SCN2A and SCN8A-DEE and their families.
Mechanism of Action
SCN2A and SCN8A genes are responsible for creating specific sodium channels in the brain. Mutations in these genes can lead to overactivation of these channels, resulting in seizures and developmental delays. Relutrigine acts as a sodium channel modulator, binding to and reducing the activation of the mutated sodium channels, thereby decreasing seizure frequency and severity.
Current Landscape and Unmet Needs
Epilepsy, characterized by recurrent seizures due to abnormal brain electrical activity, affects millions worldwide. SCN2A and SCN8A-related DEEs are rare, drug-resistant forms of epilepsy that cause frequent, debilitating seizures and developmental delays. Relutrigine represents a potential advancement in addressing the unmet medical needs of these patients.
Praxis Precision's Pipeline
Praxis Precision Medicines is focused on developing therapies for neurological disorders. Their pipeline includes multiple candidates in preclinical and clinical stages, utilizing their Cerebrum™ and Solidus™ small molecule platforms. Ulixacaltamide, a drug for essential tremors, is in a registration-enabling stage.
