Dravet Syndrome European Federation

Stoke Therapeutics, a biotechnology company that works on a proposed treatment for Dravet Syndrome, announced plans for the Zorevunersen Phase 3 study protocol. The company plans to position zorevunersen as potentially the first disease-modifying medicine for the treatment of #DravetSyndrome. The study will evaluate reductions in major motor seizure frequency as well as improvements in behavior and cognition in children and adolescents ages 2 to <18 years old. However, do not expect the treatment to be available in a very short time. The study will start mid-2025, and the data are expected in 2027. Keep following us, as usual we will keep you updated on the main advances in the understanding and treatment of Dravet Syndrome.

💜 We're close to the end of 2024, and what a year it has been. Our Federation had a lot of interesting projects, with both the patients and the scientific community in mind. And we were delighted to see so many positive results from the clinical trials taking place in various parts of the world. We are so eager to see what comes next and how we can help to improve the lifes of #Dravet patients and their carers. We wish you all a cheerful and healthy New Year!! We hope 2025 will bring even more great news!! 🥂🥂🎊🎊 #DravetSyndrome #Fight4DravetPatients

📣"The future is now", writes Ana Mingorance, scientific advisor of our Federation, in a post related to the latest news regarding the newly-developed treatments for Dravet and other epileptic encephalopathies. "For Dravet syndrome, 2024 has marked a before-and-after in therapy development," further notes Ana, speaking about the news presented last month at the American Epilepsy Society meeting. She even underlines that "cures, or life-transforming improvement across all disease domains, are a real possibility." 🧬 The developments presented over the course of the year show improvements in patients included in clinical trials with several gene therapies, which were "unprecedented in terms of tangible progress and change," concludes Ana Mingorance (read her full post to see more exciting news, link in the comments). 👇

Simona Borroni, President GFD | Gruppo Famiglie Dravet APS, will be a guest speaker at our upcoming webinar: Developmental & Epileptic Encephalopathies (DEE) Now & Next. Simona has been volunteering in non-profit associations since 2009, in the areas of epilepsy and rare diseases. She is the mother of Davide, 29, with Dravet Syndrome. With a background in auditing and project management, she leads both the Dravet Family Group and the Dravet Syndrome European Federation. A certified EUPATI Patient Expert, Simona actively contributes to research, ethical discussions, and policy development in the field of rare diseases. She offers her expertise to various projects and initiatives, striving to improve the lives of individuals and families affected by Dravet Syndrome and other rare conditions. Join us to hear from Simona and other experts as they discuss the latest advances in understanding and treating DEEs. This webinar is a must-attend for anyone who wants to learn more about DEEs and the latest advances in their treatment! 🗓️ Wednesday November 20th ⏰ 7.30 pm CET 🗣 Simultaneous translation will be available in French, Italian, and Spanish. More information and registration details are available at: https://bit.ly/DEE_Webinar or scan the QR code below.

Come join us next week in a short but dynamic discussion over current trends in the epilepsy universe. Our president, Simona Borroni, shares a reflection during the event

Improving the quality of life for Dravet patients and their families has always been a major objective of the Dravet Syndrome European Federation. We are launching a new tool to assess the needs and the well-being of caregivers and their children who are affected by this severe form of epilepsy. Stay tuned for more information. Meanwhile, you can find more details in the link below #DravetSyndrome #DSEF #Fight4DravetPatients #QualityofLife

In the video below, Dr Gaia Colasante presents the strategies and difficulties of developing gene therapy in Dravet Syndrome. She is project leader at IRCSS Ospedale San Raffaelle in Milan, Italy, and she manages a team committed to the development of gene therapy for the treatment of Dravet Syndrome and other neurodevelopmental disorders. She discussed her research results at the final meeting of the SCN1A-UP! project, a collaborative research involving six European research groups and five Patients Advocacy Organizations, which was funded by the EJPRD 2020. In particular, the study, carried out on experimental models (cells and mice), focused on the identification of tools that could enable the healthy copy of the SCN1A gene to produce more of NAV1.1 protein (upregulation) to compensate for the deficiency caused by the malfunctioning of the gene. In addition, researchers paid special attention to the identification of viral vectors capable of spreading the gene therapy to the whole brain cells where the SCN1A gene is expressed. 📣 Stay tuned for more information on the results of the study.

In the video below, Dr Massimo Mantegazza, the coordinator of the SCN1A-UP! project, shares the main results of the study. The project SCN1A-UP! is funded by the EJPRD 2020 and is a collaborative research involving six European research groups and five Patients Advocacy Organizations. The research focused on the the development in a preclinical setting (in animal models) of approaches that could be transferred to patients in the future, as well as the development of a scientific pipeline to identify therapies that may be used also for other diseases. 📣Stay tuned for more information on the results of the study.

Now that the 15th European Epilepsy Congress in Rome is over, we would like to look back and share our main takeaways. 🗣️ Dravet Syndrome is the most referenced epilepsy. According to the official program, it is mentioned much more often than other rare epilepsies. 🧬 Gene therapies have occupied an important part of the conversations and conferences, with a significant role for the industry and their approaches, including Stoke Therapeutics and their Dravet line, but also the academic shows its interesting contribution. 🤝 Interactions between clinicians and preclinical investigators are becoming more common, with debates as passionate as they are productive. If we can multiply them, we will undoubtedly advance. Check the article linked in the first comment for a more in depth review from Dr. Luis Miguel Aras Portilla, medical doctor, father of a Dravet girl, and, since 2021, Scientific Director of the Dravet Syndrome European Federation. 👇

🤝 We just had a very productive members' meeting in Rome. We are very excited to identify new common goals and new objectives for the Federation. Our fight for Dravet patients and the efforts to find a cure for #DravetSyndrome continue. Stay tuned, updates will come very soon! 📫