Drug breakthrough for children with severe form of epilepsy

"Dravet syndrome is caused by a mutation in one of two copies of a gene, SCN1A, that tells brain cells how to make important communication channels for sending signals. It means only half of the normal amount of sodium channels are produced in some neurons. Zorevunersen is designed to help ramp up the production for healthy brain activity with fewer or no seizures."

"Freddie Truelove, from Huddersfield, is one of the first children in the UK to receive the new treatment and has gone from having hundreds of seizures a day to a couple a week. His mum Lauren told BBC News that the drug has been a game-changer for eight-year-old Freddie. 'We now have a life we didn't ever think was possible and, most importantly, it's a life that Freddie can enjoy.'"

"The early trial results, published in the New England Journal of Medicine, show the experimental treatment can be given safely to adolescents and young children, from the age of two onwards. Stoke Therapeutics provided the drug that is given as a lower back injection to travel in spinal fluid to the brain, where it is needed."

Dravet syndrome is a severe form of epilepsy affecting approximately one in 15,000 babies, causing dozens of dangerous seizures daily with potentially devastating outcomes including injury and death. Zorevunersen is a new treatment administered via spinal infusion that addresses the underlying genetic cause by targeting the faulty SCN1A gene responsible for the condition. The drug works by increasing production of sodium channels in neurons, enabling healthier brain activity and reducing seizure frequency. Early trial results published in the New England Journal of Medicine demonstrate the treatment can be safely administered to children from age two onwards. Patient outcomes show remarkable improvements, with one eight-year-old reducing seizures from hundreds daily to just a couple weekly, enabling normal childhood activities previously impossible.

Read at www.bbc.com