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

Abstract

SCN8A families accelerating progress towards new therapies through advocacy, data-sharing, and engagement Many rare disease caregivers experience the dreaded realization that even with access to experienced clinicians the answers on how to best treat their children remain elusive. Like leaders of many rare epilepsy patient organizations, the Alliance founders refused to accept the status quo and organized efforts to accelerate scientific progress in SCN8A. The foundation, initially called Wishes for Elliott (WFE), began in a Pediatric Intensive Care Unit motivated by delayed diagnosis, time lost on ineffective or exacerbating treatments, and countless hospitalizations where specialists had no evidentiary basis for life and death decisions. Many SCN8A families, motivated by these persistent challenges, are stepping forward to advance the understanding of SCN8A by sharing their experiences and data. Over the past decade, the Alliance expanded efforts to include a wide range of partners and initiatives focused on building partnerships that break down silos. This includes work to: host SCN8A scientific meetings to promote coordination and collaboration among scientists and the SCN8A community; fund early investigators to support innovative research; build a dedicated SCN8A Registry providing longitudinal data on how the disease and treatments affect individuals; cultivate partnerships with all stakeholders to accelerate innovation and more effective treatments; coordinate global community engagement; build and host the Leaders Alliance to unite SCN8A advocacy groups; and advance the Research Roadmap to address critical gaps and advance a shared vision of research priorities grounded in patient/caregiver priorities. While disease-focused patient advocacy organizations face many challenges in advancing new treatments, their impact is extended by convening stakeholders, engaging in broad collaborations beyond their specific disease, and being bold/thinking big. Effective collaboration enables the efficient coordination of scarce time, energy, and resources to address the complexities of a rare disorder like SCN8A.