Drug breakthrough for children with severe form of epilepsy

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 University College London's Institute of Child Health and Great Ormond Street Hospital, says the results have been truly promising.

"It is exciting. It's amazing.

"With improvements, that gives them real hope that they are able to carry out more normal lives, particularly with their families.

"And even perhaps, if we get the treatment right, get near normal living in the longer term."

Young patients in trials in the US and the UK had up to 90% fewer seizures while on repeat doses of the new medication.

Nineteen of the 81 participants were patients at UK hospitals - Great Ormond Street, Sheffield Children's Hospital and The Royal Hospital for Children in Glasgow as well as UCL.

Many of the patients, including Freddie, are continuing on the medication for ongoing research.

More results over the coming years are needed to check how effective the treatment is before it can become widely recommended.

But experts say it offers real hope for families living with Dravet syndrome.

Dravet Syndrome UK chair of trustees Galia Wilson said: "We regularly see the devastating impact that this condition has on the lives of families. That's why we're so thrilled about these latest results from the initial zorevunersen clinical trials.

"We're now looking forward to the Phase Three clinical trials taking place to see if the early promise we see here will translate into real hope for all those families currently affected by Dravet syndrome."