Dravet syndrome is a genetic epilepsy syndrome characterized by medically refractory epilepsy, intellectual delay, gait abnormalities, as well as other less understood symptoms and, in most cases, a known genetic mutation in the SCN1A gene. Infants typically present in the first year of life, with the syndrome becoming more apparent in the second year of life. Despite optimal therapy, symptoms often escalate prior to improvement.
This diagnosis has a significant impact on all members of the family due to frequent hospitalizations and the unpredictable nature of the syndrome. Several therapies are currently in clinical trials, yet none will be compared and, therefore, the best treatments are unclear. The Dravet Syndrome Foundation (DSF) maintains contacts with families across the world providing emotional support and has developed an online support community for families. The community is hopeful that improvement in seizures will lead to an improvement in cognition and quality of life.
DSF holds an annual roundtable to discuss ongoing research in an effort to develop collaborative research. This project proposes to extend this discussion among stakeholders (including family members, physicians, social workers, and scientists) on a more frequent basis to encourage development of collaborative research to identify comparative effectiveness research goals in people living with Dravet syndrome. Teleconferences will be arranged on a monthly basis to discuss and understand the primary concerns of the families. An organizational meeting will be added to the Dravet roundtable to provide a forum for in-person discussion of the progress and next steps toward developing comparative effectiveness research.