Barry Ticho, MD, Chief Medical Officer at Stoke Therapeutics, discusses how his company works with Dravet syndrome advocacy groups, including the Dravet Syndrome Foundation (DSF). The DSF raises research funds for Dravet syndrome and related epilepsies. The mission of DSF is also to increase awareness of these catastrophic conditions and to provide support to affected individuals and families.
Dravet syndrome, a severe form of epilepsy that is part of a group of diseases known as SCN1A-related seizure disorders.
Dravet syndrome usually appears during the first year of life as frequent fever-related (febrile) seizures. As the condition progresses, other types of seizures typically occur, including myoclonus and status epilepticus. A family history of either epilepsy or febrile seizures exists in 15% to 25% of cases. Intellectual development begins to deteriorate around age 2, and affected individuals often have a lack of coordination, poor development of language, hyperactivity, and difficulty relating to others.
Despite understanding the genetic mechanism, which is caused by haploinsufficiency of SCN1A, there are no genetic therapies in development for Dravet syndrome.
Stoke’s technology could provide the first gene-specific, disease-modifying approach to prevent seizures and reduce developmental deficits