Barry S. Ticho, MD, PhD, Chief Medical Officer at Stoke Therapeutics, gives a detailed overview of Dravet syndrome.
As Dr. Ticho explains, Dravet syndrome is a rare neurological condition that usually appears during the first year of life as frequent febrile seizures. As the condition progresses, other types of seizures typically occur, including myoclonus and status epilepticus. Moderate to severe cognitive impairment is also common. Most cases of Dravet syndrome occur due to a mutation of the SCN1A gene. The SCN1A gene codes for the protein NaV1.1. With only one functional SCN1A gene, people with Dravet syndrome produce less of the NaV1.1 protein. NaV1.1 is an important protein for the nerves in the brain to work properly. Low levels of NaV1.1 in the brain can lead to seizures and other symptoms of Dravet syndrome.
Stoke Therapeutics is currently evaluating the safety and tolerability of single and multiple ascending doses of STK-001, an antisense oligonucleotide, in patients with Dravet syndrome in the MONARCH study. Change in seizure frequency, overall clinical status, and quality of life will be measured as secondary endpoints in this open-label study. Dravet syndrome can be inherited in an autosomal dominant pattern, but most people with this rare disease do not have a family history of the condition.
To learn more about Dravet syndrome and other rare neurological disorders, visit checkrare.com/diseases/neurology