Epilepsy Community at an Inflection Point: Translating Research Toward Curing the Epilepsies and Improving Patient Outcomes

Abstract

The 2021 Curing the Epilepsies Conference brought together patient advocacy organizations, professional societies, researchers, and clinicians to discuss transformative priorities that could significantly advance research toward cures and improved health outcomes for people with epilepsy. During the three-day conference, key gaps and opportunities were identified and have been summarized in separate editorials from the Epilepsy Research Benchmark Stewards and patient advocacy organizations. Patient advocates identified the following priorities as critical to advancing research on epilepsy, (1) integrating epilepsy care and research; (2) reducing health disparities for underserved communities; (3) improving measurement and tracking of patient outcomes; and (4) establishing national data on burden, incidence, prevalence, and mortality. Key to driving these transformative priorities is the development of a National Plan. This strategic plan would align and integrate basic, translational, clinical, population, and implementation research with the infrastructure, incentives, and resources to put the nation on a path to developing cures and improving the quality of life for every person touched by epilepsy.Over two decades ago, a movement led by advocacy organizations, professional societies, and governmental agencies challenged the epilepsy research community to focus on the difficult problem of curing epilepsy, defined as "no seizures, no side effects, and prevention for those at risk." This challenge to take the science beyond controlling seizures, the central

Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress

“…At the same time, larger national and international efforts are likely to be required to achieve the ends outlined in Table 1, such as adoption of genetic testing as a standard of care, ethical and equitable incorporation of gene‐based therapies, and increasing the number of genetic epilepsies with targeted therapies. We and others argue that the international epilepsy community is at an “inflection point” in our efforts toward epilepsy PM, 91 at which coordinated and concerted efforts will be needed to translate the gains highlighted in this review into epilepsy precision therapies. A working group of the Epilepsy Leadership Council in the United States recently proposed development of a “National Plan,” modeled on efforts in pediatric oncology (e.g., http://childrensoncologygroup.org) 91 following the Curing the Epilepsies Conference in 2021 98 .…”

“…We and others argue that the international epilepsy community is at an “inflection point” in our efforts toward epilepsy PM, 91 at which coordinated and concerted efforts will be needed to translate the gains highlighted in this review into epilepsy precision therapies. A working group of the Epilepsy Leadership Council in the United States recently proposed development of a “National Plan,” modeled on efforts in pediatric oncology (e.g., http://childrensoncologygroup.org) 91 following the Curing the Epilepsies Conference in 2021 98 . National and international coordination could fully integrate scientific discovery, increasing clinical knowledge, and health policy to overcome the tendency for these areas to become siloed.…”

“…In the words of one patient advocate, “Time is brain and we've lost too much of both. It's time for Covid‐level collaboration that includes a National Strategy to cure the epilepsies.” 91 …”

“…It's time for Covid-level collaboration that includes a National Strategy to cure the epilepsies." 91 AUTHOR CONTRIBUTIONS Juliet K. Knowles, Ingo Helbig, Cameron S. Metcalf, Laura S. Lubbers, Samuel F. Berkovic, and Daniel H. Lowenstein contributed to conceptualization, figures, writing, and revision of the final draft. Daniel H. Lowenstein, Ethan M. Goldberg, Alfred L. George Jr, Lori L. Isom, Holger Lerche, Sarah Weckhuysen, and Vicky Whittemore contributed to drafting and revision of the final draft.…”

“…86 Patient advocacy groups recently highlighted the importance of nonseizure outcomes for individuals with epilepsy, including cognitive function and quality of life. 91 Some genetic epilepsies give rise to complex phenotypes, including impaired neurodevelopment, ataxia, movement disorders, and progressive loss of mobility (e.g., Schreiber et al 92 ) that may be as important to patients as seizures. It will therefore be essential to define and measure patientcentered nonseizure outcomes.…”