Drug trial for severe epilepsy has transformed children’s lives, families say

The mother of a seven-year-old boy said “I feel like a millionaire, like I’ve won the lottery” after a pioneering clinical trial transformed the life of her son, who has a severe form of epilepsy.

Albie Kelly and Freddie Truelove, both seven, are two of the children who have been given a new lease of life, their families said, following the research trial at Sheffield Children’s Hospital.

Both boys have Dravet syndrome, a form of epilepsy which often begins before the age of one, and affects about one in every 15,000 babies born.

Youngsters taking part in the trial have seen dramatic changes – moving from experiencing debilitating seizures to learning to speak, read, write independently, make new friends and take part in sport, the hospital said.

Albie’s mother Lauren Kelly said: “We rarely left the house out of fear that Albie might have a seizure in a place not easily accessible for an ambulance.

“I wouldn’t travel out of the area to stay near Sheffield Children’s.

“Since the research trial it’s like I have a new child.

“It’s been life-changing. I feel like a millionaire, like I’ve won the lottery.”

Albie, who lives with his mother, father and sister in Barnsley, received the first dose of the trial drug Zorevenersen in June 2022.

Before the trial he was non-verbal, showed little emotion and, although he could walk, he often fell.

Albie is now in full-time school where he has made friends, thanks to his improved speech, his family said.

They said he is “incredibly independent” – eating and drinking well, sleeping through the night and playing sport.

Ms Kelly said: “It was surreal to have our lives transformed so quickly.

“Our quality of life has improved dramatically.

“I used to be terrified to put Albie to bed, never knowing what we’d wake up to.

“Now, he wakes up and says, ‘Morning mummy’.

“I’m so grateful we could take part in this trial.

“It’s had such a massive impact not only on Albie’s life but also on mine, Albie’s dad and my daughter’s lives.”

Freddie, who lives with his mother, father and younger sister near Huddersfield, was the first child under 13 in the UK to receive Zorevenersen, in September 2021.

Since then, he has gone from more than a dozen seizures every night, to one or two brief seizures lasting only seconds every three to five days, and even up to 10 days without any seizures.

His family said that he was not really able to talk before the trial, which meant that he struggled to develop friendships.

But now his speech is improving and he can hold a conversation fairly well which has resulted in him making friends.

He can walk up stairs unaided, swim for the first time and he even went skiing – something Freddie and his family never thought would be possible.

Freddie can read and write in full sentences and do maths, his family said.

His mum Lauren Truelove said: “It’s really hard to articulate just how big the impact this research trial has had on us, it has completely changed our lives.

“We now have a life we didn’t ever think was possible and most importantly it’s a life that Freddie can enjoy.”

Mrs Truelove said: “Both Freddie and our family’s quality of life increased significantly in the space of a week, it was really surreal.

“Freddie always wants to help, he is the kindest person I have ever met.

“His mission in life is to go above and beyond to help everyone and that’s exactly what he’s doing by taking part in this research.”

The research trial, based at Sheffield Children’s NHS Foundation Trust’s dedicated Clinical Research Facility (CRF), is led by Stoke Therapeutics.

After an observation period, the children on the trial are given an initial three doses of Zorevenersen over a period of 12 weeks.

The second part of the study involves receiving the drug every 16 weeks.

Six patients, from across the north of England and the Midlands, are at Sheffield Children’s on the trial, and approximately 17 children are taking part nationally.

Consultant in Epilepsy at Sheffield Children’s NHS Foundation Trust Dr Archana Desurkar said: “From the first dose, Albie has amazed me.

“He has been a phenomenal success from the trial and his speech has come along so much he now sings ‘happy birthday’ and says, ‘I love you’.

“What’s extra special is that by participating in this trial, Albie has not only helped himself, but future generations of children with Dravet syndrome too.”

Dr Desurkar said: “To see Freddie skiing now with such good balance and, most importantly, enjoying himself, it really is something.

“You can see the difference the trial has made to the quality of his life, and by taking part, Freddie has also helped to change the treatment options for future generations of children like him.”

The consultant said: “This condition otherwise is associated with severe refractory epilepsy, severe neurodisability and potentially early death.”

She said: “By taking part, children like Freddie and Albie are not just helping themselves, they are helping future generations with these conditions too.”

Dr Desurkar said it is likely to take several years before the trial drug becomes part of standard treatment in the NHS due to the rigorous data assessments and regulatory approvals which are needed.