Patient leadership and partnerships accelerate therapies for SCN8A and other developmental and epileptic encephalopathies.

Abstract

Families are a driving force in accelerating the understanding and science of SCN8A. The urgency felt by families facing the absence of treatments for their children makes them uniquely positioned to advance therapies through advocacy, data sharing, and partnerships. The International SCN8A Alliance (Alliance) brings families together to collaborate on advancing the science of SCN8A. The Alliance hosts SCN8A scientific meetings - facilitating coordination and collaboration among clinicians, researchers, industry, and the SCN8A community; funds early investigators to support research - building a new generation of investigators; builds and maintains a robust and dedicated International SCN8A Registry (Registry) providing longitudinal data on the natural history of the disorder and leading to over two dozen publications; cultivates partnerships with key stakeholders to accelerate innovation and progress including a Research Consortium, Global Clinicians Network, and the first global Consensus on the Diagnosis and Treatment of SCN8A; coordinates global community engagement by hosting families in virtual meetings in multiple languages and uniting advocates from across all epilepsies to call for more strategic and expanded investment in the epilepsies; builds and hosts the Global SCN8A Leaders Alliance (Leaders Alliance) promoting coordination and collaboration among leaders of SCN8A organizations worldwide; and advances a Global SCN8A Research Roadmap (Research Roadmap) - convening leading stakeholders in the SCN8A community to identify research priorities and accelerate progress toward better care, treatments, and outcomes. The outsized impact of small family advocacy organizations demonstrates that patient advocates can be effective agents in accelerating new therapeutics through maximizing their power to convene diverse stakeholders around a shared vision grounded in patient/caregiver priorities, maintaining a core focus on improving outcomes that are most important to families, and recognizing the importance of being bold, thinking big, and collaborating across disease areas.