New Data Show the Severe Impact of Dravet Syndrome, a Severe Pediatric Epilepsy

By Barry Ticho, M.D., Ph.D., Chief Medical Officer, Stoke Therapeutics 

Seizures are the most visible and universal hallmark of #epilepsy, so it’s no surprise that most people think of epilepsy as only a seizure disorder. But for certain forms of epilepsy, there are life-altering effects that go far beyond seizures.

This is the case with #Dravetsyndrome – a rare form of epilepsy classified as a “developmental and epileptic encephalopathy” – due to the severe developmental delays and cognitive impairment that stem from the genetic mutation that causes the disease. People living with Dravet syndrome often suffer from lifelong motor and speech impairment, intellectual and developmental disabilities and sleep disorders. Dravet syndrome is typically diagnosed in the first year of life, but the effects last throughout life. 

Current available medications only address seizures and fail to address the underlying cause of the disease or its devastating effects, yet they continue to be the standard of care. Though the challenges are well-known to the Dravet syndrome community and to physicians who treat people living with the disease, there are limited prospective or longitudinal data on the disease’s wide-ranging cognitive and quality-of-life impacts. 

Stoke is collecting valuable data to better understand Dravet syndrome so that we, and potentially other organizations, can design and develop next-generation medicines to treat and hopefully modify the course of this disease. Our BUTTERFLY observational study will offer quantifiable, long-term longitudinal data on Dravet syndrome’s impact on children and adolescents’ cognition and quality of life. Initial results demonstrate the magnitude of how the disease diminishes children’s adaptive behavior and neurodevelopment, showing that 10-year-olds with Dravet syndrome may function below the level of a neurotypical two-year-old, even while they are being treated with available anti-epileptic medicines. This new layer of evidence gets us one step closer to understanding the disease, which will be key for us as we continue to test our potential new medicine, STK-001.