New trial for innovative Haemophilia treatment begins at GOSH

31 Aug 2022, 9 a.m.

Mum holds Charlie in her arms so he is facing the camera and smiling  while she looks at him from side on. Dr Mary Mathias stands beside them smiling

Researchers at Great Ormond Street Hospital (GOSH) have begun a new clinical trial for an innovative haemophilia treatment. The treatment has already been trialled in patients over the age of 12 with haemophilia A and B and now researchers from GOSH, Nottingham and Birmingham will be testing the treatment in boys under 12 with a rare complication of haemophilia B.

What is haemophilia B?

Haemophilia is a rare condition that affects the blood's ability to clot. It’s usually inherited and effects almost exclusively boys. Children with the condition are unable to produce a specific protein that helps blood to clot.

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.

Current treatment

Children living with this rare form of haemophilia require an injection of concizumab every two days via a device called a ‘portacath’ - this allows for medicine to be delivered close to the heart. These injections are intended to limit bleeding, and the portacath also allows extra medicine to be delivered if a child is injured or bleeding.

Unfortunately, portacatchs require a lot maintenance to keep them free from infection. The treatment also has to be delivered by trained professionals or a trained family member every other day. The complexity of the treatment means that family life is hugely impacted and for children it often means they can’t lead a full active life.

A new trial

This new trial involves a daily injection via a pen injector that allows children to live much more like their peers, with an active life into adulthood.

A clinician about to take the cap off an injector pen

If successful, this treatment could provide an attractive option for the 2500 men and boys in the UK with severe haemophilia A and B that need regular preventative treatment.

This new trial will hopefully give children living with this rare complication of Haemophilia B the chance to lead an active life much more like their peers. Current treatment options have a huge impact on the whole family and we hope that this new pen injector will change that. It is not only important to keep researching for new and better treatments for our patients but also to ensure that the treatments we can offer them work in the best way for our families.

Dr Mary Mathias, Haemophilia Consultant and lead researcher on this trial.

Changing lives

The first patient to receive the new drug on the trial is seven-year-old Charlie who was diagnosed with the disease at birth. 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.

Charlie sits on a hospital bed while a clinician takes his blood pressure

Charlie at an appointment at GOSH

Charlie’s disease and treatment means that his mum, Hannah, can never be far from him as she’s trained to give him his drugs.

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.

Hannah is hoping that the new treatment could change all of their lives, and allow Charlie to be as active as he wants to be.

Dr Mary Mathias sits on a park bench while Charlie perches on the arm rest and Mum stands behind them

Charlie with his mum, Hannah, and Dr Mary Mathias

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 was already getting sore when he played on his scooter for too long or played too hard. This new treatment could stop his haemophilia in its tracks and is already giving him a life like all his friends, with hassle-free holidays and school trips.

Hannah, Charlie's Mum

All research at Great Ormond Street Hospital is underpinned by support from the NIHR GOSH Biomedical Research Centre.

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