Praxis Precision Medicines reports positive results from EMBOLD study on SCN2A and 8A epilepsies, showing relutrigine's potential

Praxis Precision Medicines, Inc., a clinical-stage biopharmaceutical company, has reported positive topline results from its Phase 2 proof-of-concept study evaluating relutrigine in patients with SCN2A and SCN8A developmental and epileptic encephalopathy (DEE). In the EMBOLD study, relutrigine demonstrated significant efficacy and tolerability for these conditions, which currently have no approved treatments. 

Patients in the EMBOLD study experienced a remarkable reduction in seizures, with a placebo-adjusted reduction of 46% in countable motor seizures during the double-blind period. Over 30% of patients achieved seizure freedom while on relutrigine. Additionally, meaningful improvements were noted in patients' alertness, communication, and seizure severity. In the long-term extension of the study, patients saw a 75% reduction in median seizure rate, and over 30% achieved seizure freedom.

Marcio Souza, President and CEO of Praxis, expressed his enthusiasm for the results, emphasizing the focus on advancing the company's programs. He praised the achievement of over 2,000 fewer seizures since the study's inception and highlighted the life-altering milestone of seizure freedom achieved by more than 30% of patients. Souza also extended gratitude to the patients, families, caregivers, and clinicians involved in the trial.

Dr. Antonio Gil-Nagel, Director of the Epilepsy Program at Ruber International Hospital and Principal Investigator for the EMBOLD Study, also expressed excitement over the results. He highlighted the significant reduction in seizures and the improvements in alertness and communication among patients. Dr. Gil-Nagel believes that these results suggest that relutrigine has the potential to transform pediatric epilepsy treatment.

A joint statement from representatives of The Cute Syndrome Foundation, International SCN8A Alliance, SCN2A Australia, and the FamilieSCN2A Foundation echoed the optimism surrounding the initial results from EMBOLD. They highlighted the significant reduction in seizures compared to placebo, as well as the promising outcomes across multiple clinical assessments. The next phase of the study has already been initiated, and there is hope that relutrigine could become a valuable therapy for the community.

The EMBOLD study is a multicenter, double-blind, placebo-controlled, randomized study that enrolled participants aged 2-18 years with early onset SCN2A-DEE or SCN8A-DEE. Sixteen patients were randomized to receive relutrigine either continuously for 16 weeks or for 12 weeks followed by a placebo for 4 weeks. Thirteen patients enrolled in the open-label extension phase of the study.

Relutrigine was generally well tolerated, with the most common adverse events being infections, vomiting, pyrexia, somnolence, and constipation. No patients discontinued due to adverse events. Seven patients increased their daily dose during the study, and no patient required dose reduction. 

In terms of efficacy, patients on relutrigine exhibited significant improvements in disruptive behavior, communication, seizure severity and intensity, and alertness, as assessed by both caregivers and clinicians. Furthermore, eight patients completed at least one 28-day period in the long-term extension, achieving a median reduction in motor seizures of 75%. Five patients achieved a 28-day seizure-free status while on relutrigine, compared to none on placebo.

Relutrigine, a first-in-class small molecule, is a preferential inhibitor of persistent sodium current, which is a key driver of seizure symptoms in SCN2A-DEE and SCN8A-DEE. It has demonstrated dose-dependent inhibition of seizures in preclinical models and has been well tolerated in Phase 1 studies.

Praxis Precision Medicines is focused on translating genetic insights into the development of therapies for central nervous system disorders characterized by neuronal excitation-inhibition imbalance. The company is utilizing its proprietary small molecule platform, Cerebrum™, and antisense oligonucleotide platform, Solidus™, to develop treatments for a range of neurological disorders. Praxis has a diversified portfolio, including multiple programs across movement disorders and epilepsy, with four clinical-stage product candidates.

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