Drug Trial Transforms Lives of Children With Severe Epilepsy, Families Report

A mother expressed "It feels as though we've hit the jackpot, like winning millions" after a groundbreaking clinical trial significantly improved the condition of her seven-year-old boy, who suffers from a serious case of epilepsy.

Albie Kelly and Freddie Truelove, both aged seven, are among the children whose lives have reportedly improved dramatically after participating in a research study conducted at Sheffield Children’s Hospital, according to their families.

The two children both suffer from Dravet syndrome, an epileptic condition typically starting within their first year and impacting approximately one out of every 15,000 infants.

Participants in the trial have experienced remarkable transformations—from suffering severe seizures to being able to communicate verbally, read, write autonomously, form new friendships, and engage in sports, according to the hospital.

Lauren Kelly, Albie's mother, stated: "We seldom ventured outside due to our concern that Albie could experience a seizure in a location where an ambulance would struggle to reach."

I wouldn't go out of my way to stay near Sheffield Children's Hospital.

Ever since the research trial, it feels as though I have a brand-new child.

It has transformed my life. I feel as though I've struck it rich, like I hit the jackpot.

Living with his parents, mother, father, and sister in Barnsley, Albie was administered the initial dosage of the experimental medication Zorevenersen in June 2022.

Prior to the trial, he was unable to speak, displayed minimal emotions, and even though he could walk, he frequently stumbled.

Albie is currently enrolled in full-time schooling and has made new friends, all because of his enhanced speaking skills, according to his family.

He was described as "highly self-reliant" — maintaining good nutrition with proper meals and hydration, getting consistent nighttime sleep, and actively participating in sports activities.

Mrs. Kelly stated, "It felt unreal having our lives change so rapidly."

Our standard of living has enhanced significantly.

I was once petrified about putting Albie to sleep because I couldn’t predict what condition we would find him in upon waking.

Now, when he awakens, he says, 'Good morning, mommy.'

I'm extremely thankful that we had the opportunity to participate in this trial.

It has made such an enormous difference not just for Albie, but also for me as his father and for my daughter.

Freddie, who resides with his parents and younger sister close to Huddersfield, became the first child under 13 in the UK to be administered Zorevenersen when he received the treatment in September 2021.

Afterward, he experienced a reduction from over a dozen nightly seizures down to just one or two short episodes occurring every three to five days, with some periods extending up to 10 days free of any seizures.

His relatives mentioned that he couldn’t really speak much prior to the trial, which made it difficult for him to form friendships.

However, his speech is getting better nowadays, allowing him to engage in conversations quite effectively. This improvement has helped him make some friends.

He can climb stairs without assistance, has taken to swimming for the first time, and even tried skiing – an activity Freddie and his family never imagined could be within reach.

His family mentioned that Freddie is capable of reading and writing complete sentences as well as doing mathematics.

His mother, Lauren Truelove, stated: "It's extremely difficult to express the magnitude of the impact this research study has had on us; it has utterly transformed our lives."

We now have a life that we never thought would be possible, and most crucially, it’s a life where Freddie can truly enjoy himself.

Mrs Truelove stated, "Freddie and our family's quality of life improved dramatically within just one week; it felt almost dreamlike."

Freddie is always eager to lend a hand; he’s the most compassionate individual I’ve ever encountered.

His purpose in life is to surpass expectations in assisting others, which is precisely why he's contributing to this research.

The study, which is taking place at the Sheffield Children’s NHS Foundation Trust’s specialized Clinical Research Facility (CRF), is headed by Stoke Therapeutics.

Following an observational phase, the kids in the study receive an initial series of three doses of Zorevenersen spread across a 12-week timeframe.

The latter portion of the research entails administering the medication every 16 weeks.

Around six patients from various areas in the north of England and the Midlands are participating in the trial at Sheffield Children’s Hospital, with roughly 17 children involved nationwide.

Dr. Archana Desurkar, a Consultant in Epilepsy at Sheffield Children’s NHS Foundation Trust, mentioned: "Since the initial dosage, Albie has astounded me."

He has achieved remarkable success since the trials began, and his progress with speaking continues impressively; he can now sing 'Happy Birthday' and say 'I love you.'

What makes this truly remarkable is that by joining this trial, Albie has not just benefited himself but also contributed to helping future children with Dravet syndrome.

Dr Desurkar remarked, "Seeing Freddie ski now with such great balance and, more importantly, having fun doing it, truly is remarkable."

You can observe how much the trial has improved the quality of his life, and by participating, Freddie has also contributed to altering treatment possibilities for future generations of children similar to him.

The consultant stated: "This condition is typically linked with extreme drug-resistant epilepsy, significant neurological impairment, and possibly premature death."

She stated, "Through their participation, children such as Freddie and Albie aren't only benefiting themselves; they're also contributing to the well-being of future generations who may have these conditions."

Doctor Desurkar indicated that it could be several years before the experimental medication is incorporated into routine treatments within the NHS, owing to the extensive data evaluations and necessary regulatory clearances required.