Freddie and Albie take part in life-changing clinical trial

Meet Freddie (right) and Albie (left) who have experienced life-changing results after taking part in a pioneering clinical trial here at Sheffield Children’s. Before taking part in the trial, they experienced multiple debilitating seizures every day and spent lots of time in hospital. Now they have learnt to speak, read, write, make new friends and enjoy skiing and swimming with their families!

Both Freddie and Albie, who are seven years old, have Dravet syndrome, a severe form of epilepsy which often begins before the age of one, and affects about one in every 15,000 babies born.

Freddie was the first child under 13 in the UK to receive a trial drug in September 2021 which saw him go from more than a dozen seizures every night, to one to two brief seizures lasting only seconds every three to five days and even up to 10 days without any seizures.

Freddie’s mum Lauren 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. Freddie always wants to help, he is the kindest person I have ever met. His mission in life is to go above and beyond for others and that’s exactly what he’s doing by taking part in this research.”

Albie received the first dose of the trial drug in July 2022 and has been largely seizure free since then.

Albie’s mum Lauren 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. 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’. 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.”

Research trials like this, which is led by Stoke Therapeutics, offer new treatment opportunities and hope for patients who live with severe neurological conditions where treatment options are otherwise quite limited.

Dr Desurkar, Consultant in Epilepsy at Sheffield Children’s, said: “This is one of the most novel trials in children’s epilepsy. This trial aims at increasing protein output from healthy genes. It is innovative science that gives us the potential to modify the natural course of this disease for the better and participating in clinical trials and undertaking research is what advances science – by taking part, children like Freddie and Albie are not just helping themselves, they are helping future generations with these conditions too.”

Everyone involved in the trial will continue to receive the drugs every 16 weeks as the trial is ongoing and further trials are being planned.

Dr Desurkar said: “It is likely to take several years for the trial drug to become a part of standard treatment in the NHS as clinical trials like this go through rigorous data assessment, and approvals of the successful treatment go through the therapy licensing authorities across the globe. Until then, Stoke Therapeutics will continue to provide the trial drug to the current study participants which is always a huge advantage of taking part in a clinical trial, especially when the results have demonstrated such significant impact on the disease.”

Research and innovation are hugely important parts of our work at Sheffield Children’s and clinical trials are one of the ways we are continuing to develop and provide the very best care possible for patients and their families.

Lauren, Freddie’s mum, said: “Taking part in a research study is a really positive reason to be in a hospital and we’re so thankful for everything the team at Sheffield Children’s have done.”

We are so pleased to see Freddie and Albie’s new lease of life, thank you for sharing your stories!