Drug breakthrough for children with severe form of epilepsy

Drug breakthrough for children with severe form of epilepsy 8 minutes ago Share Save Michelle Roberts Digital health editor Share Save A new drug is transforming the lives of children born with a severe form of epilepsy, say doctors and families. Dravet syndrome can cause dozens of dangerous seizures a day and affects about one in every 15,000 babies born. Without effective treatment, the outlook can be devastating, with uncontrolled fits putting children at high risk for injury and death. The new drug zorevunersen is administered into the spine via an infusion and works by managing the underlying cause in most cases - a faulty gene affecting the brain. 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," she said. "Before treatment, life was difficult. Since, he's climbed mountains, we can go out walking with the dogs, walk around the lakes. And he's even been skiing. "He's out there... enjoying life." 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 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. Prof Helen Cross, one of the lead researchers from Uni...