This chart illustrates the geographic representation of families participating in the SCN8A Research Roadmap, with contributions from six continents. The data highlights that the largest group of participants comes from the USA, followed by families in Brazil, Spain, Italy, and Canada. Other represented countries include the UK, Australia, Colombia, Poland, and many more, showcasing the global reach of the SCN8A community with participants from 175 families from 6 continents.

This chart presents the SCN8A families’ research priorities, showing that 60% of participants prioritize improving seizure control, while 40% focus on improving non-seizure-related outcomes. This highlights the importance of addressing both seizure and non-seizure challenges in SCN8A care.

This chart outlines the top five quality of life challenges faced by individuals with SCN8A. The most significant challenges include receptive and expressive communication, gross motor skills, and cognition. These are key areas of concern for families in managing day-to-day life with SCN8A.

This graphic highlights the top medication priorities for SCN8A, ranked by participants. The highest priority, with an average rank of 1.4, is developing new, more effective anti-seizure medications with fewer side effects. Other priorities include better understanding the efficacy of drug combinations with an average rank: 1.4, exploring the use of off-label anti-seizure medications such as Fenfluramine and Cenobamate with an average rank: 2.8, and repurposing existing drugs for SCN8A-related disorders with an average rank: 3.0.

This graphic shows potential interventions or treatments for SCN8A that participants believe warrant further investigation. Alternative therapies, including CBD, are the most commonly suggested (53%), followed by ASM combinations (47%), medications for disruptive behavior (27%), off-label medications (26%), VNS (17%), and the keto diet (15%).

This chart shows participant preferences for distributing limited research funding. The majority, 74%, prioritized gene therapies (longer-term focus) as the top area for research. 24% of participants selected new ASMs (short-term focus), while 2% chose other areas.

This chart shows participant interest in clinical trials depending on the type of trial. 55% of participants expressed interest in trials for new genetic therapies, 33% were interested in trials for new anti-seizure medications, while 12% indicated they are not interested in clinical trials.

This chart reflects clinicians’ involvement in conducting clinical research related to SCN8A. 74% of clinicians surveyed indicated they are currently conducting research. 13% are not involved in research, while 9% expressed interest in participating in the future. A small percentage, 4%, selected other responses.

This chart illustrates the percentage of research effort dedicated by clinicians to SCN8A-related research. The majority of clinicians dedicate 10-25% of their effort to research, followed by those dedicating 26-50%. A smaller portion of clinicians dedicate more than 76% of their time to research, while a few allocate less than 10% or fall into the 51-75% range.

This pie chart shows the number of years treating epilepsy or CNS disorders. The majority, 63%, have been practicing for more than 10 years, while 26% have 6-10 years of experience, and 11% have been treating for 2-5 years.

This chart shows the number of SCN8A patients currently being treated by clinicians. The majority of clinicians treat 1-5 patients, with a median of 5 patients. Fewer clinicians treat 6-10 patients, while only a small number manage more than 11 patients.

This chart ranks the importance of research in four major areas, as identified by clinicians. Treatment and Therapeutics received the highest priority, followed by Diagnosing and Phenotyping. Prognosis and Natural History and Comorbidities were also recognized as important areas for research, though with slightly lower rankings.

This chart ranks the importance of research tools and methods needed to address knowledge gaps in SCN8A. The SCN8A Registry is considered the most important, followed by Biomarker Discovery and Wearable Digital Health Technology. Other important tools include Electrophysiological Methods and Neuropsychological Assessments.

This chart ranks the importance of interdisciplinary projects to accelerate progress in SCN8A research. The highest priority is a Prospective Natural History Study, followed closely by Inter-clinic Partnerships. Other important projects include Multidisciplinary Collaboration, Coordinated Cross-Disease Studies, and Biobanks and Tissue Repositories.