Transformational gene therapy approved for haemophilia B

Written by Sam Wilson, June 27, 2024

Gene therapy for haemophilia B will be available on the NHS following a landmark decision by the National Institute for Health and Care Excellence (NICE) to approve the treatment for use in England.

Hemgenix® (etranacogene dezaparvovec) will be the first treatment to enter NHS England’s Innovative Medicines Fund (IMF), following a commercial deal being reached between NHS England and the drug’s manufacturer, CSL Behring. Through the IMF, NHS England will immediately fund the treatment at eight specialist centres across England.

The announcement is a major breakthrough for haemophilia treatment following more than 14 years of research into gene therapy, which was pioneered in the UK by Professor Ted Tuddenham and Professor Amit Nathwani at the Royal Free Hospital in London. Their work laid the foundations for the latest trials. We are grateful to everyone who has taken part in gene therapy trials, whose experiences have helped improve the treatment.

Clive Smith, Chair of the Haemophilia Society, said: ‘The availability of gene therapy through the NHS for people living with severe haemophilia B marks a major milestone for our community. At its most effective, gene therapy has the potential to transform lives by eliminating painful bleeds and removing the need for regular, invasive, treatment. This is another important step towards our goal that everyone living with an inherited bleeding disorder has access to treatment which allows them to lead a full and independent life.’

There are currently about 2,000 people in the UK who live with haemophilia B. NICE estimates around 250 of those will be eligible for the new treatment in England. The treatment is available to adults with factor IX clotting levels of less than 2% of normal levels who have no history of or current inhibitors.

If gene therapy is successful, it should eliminate the need for day-to-day treatment for at least three years and potentially beyond a decade.

NHS providers will be commissioned to deliver treatment in each NHS England region with centres in London, Oxford, Manchester, Leeds, Bristol, Birmingham and Cambridge.

Elliott Collins, 34, from Essex, has severe haemophilia B and took part in gene therapy trials five years ago. Before gene therapy, he had twice-weekly injections of factor IX replacement, but he has not needed any treatment since.

He said: ‘I will always be grateful for the quality of life I’ve had for the last five years, which hopefully will continue for a good while longer. I feel in the best health of my life.’

It took Elliott a year to decide whether to take gene therapy and, although his experience has been very positive, he advises anyone considering it to take their time and to think carefully about what could happen.

He said: ‘Make sure it is the right thing for you. Talk to your family, think about every outcome whether that be good or bad. Do your own research and make your own mind up. It is about risk versus reward.’ Read more about Elliott’s gene therapy experience here. Read more about Elliott’s story here.

Haemophilia B is a lifelong, inherited bleeding disorder where factor IX (nine), one of the clotting factor proteins important for blood clotting, is either partly or completely missing.

People with haemophilia take longer than normal for bleeding to stop. They may have bleeding into joints and muscles without having had an injury, so treatment is aimed at reducing spontaneous bleeding, controlling traumatic bleeds, allowing people to take part in sport and exercise and preventing joint damage.

Bleeding can be controlled by replacing missing clotting factor in the blood with intravenous injections of clotting factor concentrate. The level of factor IX is increased temporarily, so infusions need to be repeated regularly. Depending on the treatment used, people with severe haemophilia B would typically need infusions once or twice a week.

Gene therapy works by artificially creating a working version of the factor IX gene. The gene is put inside a viral vector, which is an inactivated virus, meaning it cannot spread in the body and does not cause illness in humans. The virus’ purpose is to get the factor IX gene to the liver. Once that is done, the viral vector is broken down and removed by the body.

Once the gene therapy is delivered, through an infusion, the liver can start making its own factor IX, without becoming part of the person’s DNA.

Find out everything you need to know about gene therapy, including side effects, how the treatment is given and the location of your nearest specialist treatment centre, here.