International SCN8A Alliance

Research ? Since 2015, the International Scn8a Alliance has helped build the core of researchers committed to finding answers by funding early career researchers. With 90% of our grantees still focused on Scn8a and related research after their grants are completed, these early career researchers are opening their labs and conducting novel research on a range of emerging and entrenched issues related to Scn8a and rare Epilepsies. Please see schedule o for additional information on research accomplishments. We also host scientific meetings to align the community on critical research efforts and to help ensure coordination and collaboration across the globe. These meetings are catalysts for new partnerships and advancing scientific progress in both Scn8a and dees.

Advocacy ? Our efforts, spanning both the broad range of Developmental and epileptic encephalopathies (dees) and Scn8a, include diverse advocacy efforts to both legislative and administrative policymakers. Our legislative advocacy includes multiple efforts addressing pending legislative actions and appropriations that affect supported research and support for families (i.e., proposed medicaid changes) as well as advocating for additional federal funding for translational epilepsy research. To ensure our community is heard, we have also provided multiple comments to federal agencies, including the fda, nih, and cdc, often but not exclusively in response to published rfis. A significant effort included a submission of data and family stories for the fda to provide required context about Scn8a patient perspectives, priorities, and lived experiences. Another was substantive feedback on fda draft guidance on clinical outcome assessments. Both submissions were well received.

Education: we work to improve the understanding of Scn8a by ensuring that stakeholders foster relationships break down barriers and collaborate to find treatments and improve the quality of life for all. Education is a two?way street. We learn from families and we provide opportunities for families to engage with researchers pharma clinicians regulators and beyond. We pull down silos that stall progress and ensure all are working with the utmost speed to reach our goal a cure for our children. For Scn8a, we host meetups weekly (with 4 language groups) to discuss what we are learning from our registry and hear from families. Across the development and epileptic encephalopathies, via our dee?p connections project, we have hosted more than 70 interactive webinars since 2020 to bring critical information and resources to dee caregivers.