Young islander becomes first patient in haemophilia drug trial

Thursday 01 September 2022

A seven-year-old from Jersey has become the first patient to receive a new drug for haemophilia in an "innovative" trial to treat the rare condition which he has suffered from since birth.

Haemophilia is a rare condition that affects the blood's ability to clot. It’s usually inherited and effects almost exclusively boys.

Children with haemophilia often suffer from nosebleeds, bruising and painful bleeding into joints and muscles, and skin that bruises easily. Without treatment, symptoms are likely to worsen as children get older, leading to severe joint paint and the need for walking aids alongside increased hospitalisation. 

Jersey primary school pupil Charlie tried several different haemophilia treatments over his first few years before being diagnosed with a rare form of the disease which means he is naturally resistant to the conventional drugs. 

Barriers to an active life for children

Currently treatment for this includes an injection every two days via a device called a ‘portacath’ that allows medicine to be delivered close to the heart.

The injections are intended to limit bleeding, and the portacath also allows extra medicine to be delivered if a child is injured or bleeding.  

Portacaths require a lot of maintenance to keep them free from infection and treatment must be delivered by trained professionals or a trained family member every other day. Subsequently, the frequent injections and upkeep of a central line means that children can’t lead a full active life, they often miss school and family life is hugely impacted by the regular complex treatment.  

The trial

However, this new trial at Great Ormond Street Hospital involves a daily injection via a pen injector that would allow children to live much more like their peers, with an active life into adulthood.

If successful, this treatment could provide an attractive option for the 2,500 men and boys in the UK with severe haemophilia A and B that need regular preventative treatment. 

Pictured: Charlie and his mum, Hannah, alongside Dr Mary Mathias who is leading the trial.

The treatment has already been successfully trialled in patients over the age of 12 with haemophilia A and B, and now Charlie from Jersey is the first patient in the trial to test the treatment in boys under 12 with a rare complication of haemophilia B. 

"It's a total transformation"

This new treatment has given Charlie much more freedom to spend time away from his family.

His mum, Hannah, said: “Charlie is still young so can’t really appreciate all the time and logistics of his treatment. We used to spend literally hours every week, sometimes hours a day, managing his medication not to mention fridges full of prescriptions and extra suitcases for equipment, and planning whenever we want to go anywhere.

"Now he's doing his own injections – it’s amazing. He’s gone to sports camps this summer, we’re planning days and nights away, it’s a total transformation of what we can think about doing.”

"This new treatment could stop his haemophilia in its tracks"

She added: “We know that children with Charlie’s condition can end up with long term damage – bone grafts to repair damage or even a wheelchair - he already gets sore when he’s played on his scooter for too long or played too hard.

"This new treatment could stop his haemophilia in its tracks and give him a life like all his friends, with hassle-free holidays and school trips.”