Dravet syndrome is a severe form of epilepsy that is primarily caused by mutations in the SCN1A gene, which encodes a sodium channel critical for the proper functioning of the brain. As a result, patients experience a multitude of challenges, including severe seizures, an increased risk of mortality, and developmental impacts on cognition, movement, and behavior. Current treatment options often involve a combination of antiepileptic medications, but they frequently fall short, prompting the need for more effective therapies. A significant focus of DSF and the community has been to pursue innovative treatments, primarily through laying the groundwork of basic research and community building that enables the development of novel therapies. Since Dravet syndrome is primarily caused by mutations in a single gene, SCN1A, a promising avenue to better treat the entire spectrum of disease symptoms is to target the genetic cause. Â
Genetic-based therapies are still a relatively new concept, although more and more of these therapies are being approved and revolutionizing the treatment landscape for genetic disorders. In Dravet syndrome, mutations in SCN1A reduce the amount of healthy sodium channels that are produced by about 50%; the goal of gene therapy is to replace or restore expression of those sodium channels. The SCN1A gene poses several challenges that made replacing the faulty gene difficult. However, scientists have come up with creative approaches to get around those challenges and two experimental therapies have even begun studies in human patients.
- Encoded Therapeutics is sponsoring the Phase 1/2 ENDEAVOR study for EXT101 in the US, enrolling patients with Dravet syndrome aged 6 months to less than 36 months. ETX101 is expected to be a one-time treatment delivered directly to the CNS. You can read about this study and get more information on how to participate in this recent blog post.
- Stoke Therapeutics recently finished a Phase 1/2 study for zorevunersen (STK-001) in the US and UK with positive data indicating seizure reductions and early signs of improvements in developmental domains. They are currently working on a global Phase 3 study that is anticipated to begin in 2025. Read more about the most recent study results in this blog post.
There are many other promising approaches to a genetic therapy for Dravet syndrome currently in earlier stages of development. You can read more in-depth about the various ways scientists are attempting to target the genetic cause of Dravet syndrome at this recently updated webpage.
DSF remains committed to funding and supporting research that can contribute to the development of a genetic-based therapy for Dravet syndrome. Although there is not yet an approved genetic-therapy for Dravet syndrome, the current advancements offer a glimpse into a future where the genetic basis of Dravet syndrome can be effectively targeted and treated. Continued support, participation, and investment in research will be crucial in transforming this potential into reality; hopefully vastly improving the lives of those impacted by Dravet syndrome.
