Exciting Progress in SCN8A Research: Positive Initial Results from the Praxis EMBOLD Study
We are pleased to share an update from Praxis Precision Medicines regarding the EMBOLD study, which has shown some initial promising results in SCN8A and SCN2A developmental and epileptic encephalopathy (DEE) patients. These findings are exciting as we know there is substantial unmet need within the community.
What This Means
The Phase 2 data for Relutrigine (PRAX-562) are an important next step in the search for better treatments for those with SCN8A-DEE. Early signs of reduced seizures – a reported 46% reduction in countable motor seizures compared to placebo and that 30% of participants achieved seizure freedom are promising.
The EMBOLD study also reported improvements in areas that our community has identified as critical to quality of life: communication, behaviors and alertness. These gains are especially significant given the severe impact SCN8A-DEE can have on daily life. Additionally, 8 patients enrolled in the study’s long-term extension reported a 75% median reduction in seizures with 5 patients experiencing seizure free periods longer than 28 days (and one exceeding 200 days without seizures).
A Closer Look at the EMBOLD Study
EMBOLD was a randomized, placebo-controlled phase 2 study testing the efficacy and safety of Relutrigine in 16 patients with SCN8A-DEE (9 patients) and SCN2A-DEE (7 patients). Key inclusion criteria for participants included documentation of severe DEE in either an SCN8A or SCN2A mutation, aged between 2-18 years old, at least 8 countable motor seizures in the 4 weeks preceding and during the 28-day baseline observation and on a stable anti-seizure medication regimen for at least one month prior to screening. You can learn more about the EMBOLD (PRAX-562) study in this session we held with the team from Praxis.
Looking Ahead: Expanding the EMBOLD Study
In light of these initial results, Praxis has announced the expansion of the EMBOLD study into a registrational trial—a critical step toward potential approval of Relutrigine for SCN8A-DEE. This next phase will enroll 80 patients globally, offering a broader and more diverse assessment of the drug’s efficacy and safety.
The journey to effective treatments for SCN8A-DEE has been long and challenging, but the results from EMBOLD give us hope that there may be more effective treatments on the horizon. As this trial progresses, we will continue to advocate for the needs of our community, ensuring that the voices of families affected by SCN8A-DEE are heard loud and clear.
We express our deepest gratitude to the patients, families, and clinicians who participated in the EMBOLD study.
Stay connected for more updates as we follow the progress of this important research. Together, we are forging a path to a brighter future for all those affected by SCN8A-DEE.
