Any SCN8A caregiver can tell you, nearly every treatment decision and medication change is a guess. Even the most informed doctors have to guess at times because there is little data being used to drive decision-making. The International SCN8A Alliance is working with a team from around the world to develop the first ever global diagnosis and treatment guidelines for SCN8A. We have laid the intensive groundwork necessary to advance this process including an exhaustive review of the literature. We have also recruited 30 leading pediatric epileptologists from around the world, representing 5 continents and a diverse group of SCN8A caregivers who are working to develop consensus on the best care, treatments and health needs of those living with SCN8A and their families. This effort is being undertaken in the hopes that no matter where someone with SCN8A is diagnosed or who their doctor is, a comprehensive resource will be available to help inform better treatment and care decisions using the best possible information and experiences. With your help, we aim to foster: earlier diagnosis, data driven medication decisions, and better referral and treatment for the many related health issues associated with SCN8A.
Start date: 1 March 2023 | Proposed end date: 31 December 2023
Regions: Africa, Asia & Oceania, Eastern Mediterranean, Europe, Latin America, North America
Languages: English, Spanish
Lead institution: International SCN8A Alliance, Washington, D.C., USA
Location: International
Principal Investigator / Organizer: Gabrielle Conecker
Patient age: Pediatric, Adult
Type of project: Clinical, Community Education, Research, Advocacy, Healthcare Professional Education
Funding sources: Pharmaceutical – The majority is funded by the nonprofit with some pharma and another patient advocacy group grant
Project needs: Funding
Contact Person: JayEtta Hecker