Barry Ticho, MD, Chief Medical Officer at Stoke Therapeutics, provides an overview of 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.
Around 85% of Dravet syndrome cases are due to a mutation in the SCN1A gene, which is required for the proper function of brain cells. In about 10% of cases the cause is unknown but other genes are likely the cause. The main goal of treatment is to reduce seizures frequency and prevent status epilepticus. Moderate to severe cognitive impairment and intractable epilepsy into adulthood is common. Common issues associated with Dravet syndrome include:
– Prolonged seizures
– Frequent seizures
– Behavioral and developmental delays
– Movement and balance issues
– Orthopedic conditions
– Delayed language and speech issues
– Growth and nutrition issues
– Sleeping difficulties
– Chronic infections
– Sensory integration disorders
Current treatment options are limited, and the constant care required for someone suffering from Dravet syndrome can severely impact the patient’s and the family’s quality of life. Patients with Dravet syndrome face increased mortality rate due to SUDEP (Sudden Unexpected Death in Epilepsy), prolonged seizures, seizure-related accidents such as drowning, and infections
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