Haemophilia gene therapy now available to NHS patients

A haemophilia treatment described by a patient as the 'best thing that ever happened' to him is now available for patients on the NHS.

The gene therapy will be available for NHS patients with moderately severe and severe haemophilia B after funding approval was given by the National Institute for Health and Care Excellence (NICE).

The treatment was developed by doctors at the Royal Free Hospital and scientists at University College London.

Elliot Mason was one of the patients who took part in the clinical trial for the therapy.

He said: "This treatment was the best thing that ever happened to me. 

“My results were fantastic - it’s been amazing for me. I get tested every six months and so far I haven’t needed any further treatment. I’ve been doing all sorts of things which I wouldn’t have dreamed of doing previously – for example I drove a motorcycle in Australia, which I definitely couldn’t have done before.”

Currently patients with haemophilia are required to take weekly injections to replace missing clotting factors in their blood and they often suffer from debilitating join damage.  

However, the gene therapy is a one-off treatment, proven to have long-lasting clinical benefit. 

Professor Amit Nathwani, who led the research into the gene therapy, said he is delighted it will be available for patients on the NHS.

“It’s wonderful news,” he said “It means that many more patients will be have access to this transformative treatment. It will free patients from the challenge of having to managing this debilitating and burdensome disease with life-long intravenous injection.”

Patients with haemophilia B have low levels of the factor IX (FIX) protein, needed for forming blood clots that help prevent or stop bleeding.

Currently, patients with haemophilia B need to inject themselves regularly – usually twice weekly – with something known as recombinant FIX to prevent excessive bleeding. However, despite advances in treatment, patients continue to see debilitating joint damage caused by their haemophilia when using this type of therapy. 

But the AAV gene therapy treatment led to sustained production of the FIX protein in the majority of patients for many years, so they no longer needed the regular injections.

Top image: Elliot Mason

Bottom image: Professor Amit Nathwani