Groundbreaking gene therapy trial set to cure haemophilia A | Our news

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Groundbreaking gene therapy trial set to cure haemophilia A

A 'cure' for haemophilia is one step closer, following results of a groundbreaking gene therapy trial led by Barts Health NHS Trust.

Clinical researchers at Barts Health NHS Trust and Queen Mary University of London have found that over one year on from a single treatment with a gene therapy drug, participants with haemophilia A (the most common type) are showing normal levels of the previously missing protein, and effectively curing them.

A single infusion of the gene therapy drug showed improved levels of the essential blood clotting protein Factor VIII, with 85 per cent of patients achieving normal or near-normal Factor VIII levels even many months after treatment.

The 'transformational' results have particular significance as the first successful gene therapy trial for the haemophilia A.

There are around 2000 people with severe haemophilia A in the UK. A hereditary genetic condition dominantly affecting men, people with severe haemophilia A have virtually none of the protein factor VIII which is essential for blood to clot. It puts those affected at risk of excessive bleeding even from the slightest injury as well as causing spontaneous internal bleeding, which can be life-threatening. Recurring bleeding into joints can also lead to progressive joint damage and arthritis. The only current treatment involves multiple weekly injections to control and prevent bleeding, but there is no cure.

The trial saw patients across England injected with a copy of the missing gene, which allows their cells to produce the missing clotting factor. Following patients for up to nineteen months, tests show that eleven out of thirteen patients in the trial now have normal or near normal levels of the previously missing factor and all thirteen patients have been able to stop their previously regular treatment.

Professor John Pasi, Haemophilia Centre Director at Barts Health NHS Trust and Professor of Haemostasis and Thrombosis at Queen Mary University of London explained: "We have seen mind-blowing results which have far exceeded our expectations.  When we started out we thought it would be a huge achievement to show a five per cent improvement, so to actually be seeing normal or near normal factor levels with dramatic reduction in bleeding is quite simply amazing. We really now have the potential to transform care for people with haemophilia using a single treatment for people who at the moment must inject themselves as often as every other day. It is so exciting."

The team will now hold further tests widening participants globally to include people in the USA, Europe, Africa and South America.

Professor Pasi continued: "Incredibly exciting is the potential for a significant change in how haemophilia is treated globally. A single dose of medication that can so dramatically improve the lives of patients across the world is an amazing prospect."

Professor Jo Martin, President, The Royal College of Pathologists said: "Pathology research is often responsible for ground-breaking developments in diagnoses and treatments that transform the lives of patients.

"What is truly remarkable about this revolutionary new gene therapy are the profound life-changing effects it offers patients with haemophilia. We would like to congratulate College fellow, Professor Pasi, and his team at Barts Health NHS Trust and Queen Mary University of London for their work in creating a simple but transformational treatment for patients."

Jake Omer, 29 lives in Billericay and is married with two children. Diagnosed at two years old, he has had frequent injections of factor VIII to prevent bleeds ever since. Before he was treated with the gene therapy, Jake would wake up early before work to inject factor VIII three times a week as well as whenever he had an injury to stop the bleeding. 

Jake said: “The gene therapy has changed my life. I now have hope for my future. It is incredible to now hope that I can play with my kids, kick a ball around and climb trees well into my kids' teenage years and beyond. The arthritis in my ankles meant I used to worry how far I would be able to walk once I turned 40. At 23 I struggled to run 100m to catch a bus; now at 29 I'm walking two miles every day which I just couldn't have done before having the gene therapy treatment.

“It's really strange to not have to worry about bleeding or swellings. The first time I noticed a difference was about four months after the treatment when I dropped a weight in the gym, bashing my elbow really badly. I started to panic thinking this is going to be really bad, but after icing it that night I woke up and it looked normal. That was the moment I saw proof and knew that the gene therapy had worked.”

The five UK trial sites included: The Royal London, Guys and St Thomas', Birmingham, Cambridge and Hampshire hospitals.


Add a response »
  1. ellis burley Monday, 22 January 2018 at 10:45 PM

    This made me happy, I have servere heamophillia A and sometimes it can be a hindrance, its nice to know people are still making strides into areas that arent massively well known. It's a hard thing to live with but if imanaged well I don't feel any different to the people arround me. Nice to think that maybe one day I can be "normal" though.

  2. ellis burley Monday, 22 January 2018 at 10:56 PM

    Im an 18 year old and have survere heamophillia A, to me personally this is a huge step in the right direction and i really hope it continues to improve, I don't tend to let it effect me too much in everyday life but sometimes that just isnt an option. I don't tend to feel different to anyone arround me but its nice to think that one day I could be "normal"

  3. Ellis jones Tuesday, 13 February 2018 at 01:32 PM

    How do you sign up for these trials? Or when will this be realised to the public

  4. Faruq Khan Friday, 2 March 2018 at 10:17 PM

    I Knew Professor John Pasi from 30 years back at Birmingham Children's Hospital, he use to mix up my factor 8 and give it to me, I have always remembered him, such a nice guy very caring, and 30 years later still caring for haemophilia sufferers. It was nice to see him on the news and tell us about this successful treatment. I hope this gene therapy can get it to the poorer countries where factor 8 has to be paid for by the sufferers of their families and places where there is no treatment. this great news seems like a dream but it is real.
    well done and thank you Professor!!!!

  5. JAMES R. TAYLOR Tuesday, 20 March 2018 at 09:16 PM

    I have Heamophilia A and i was told by my doctor that it has become servere and I would like to sign up for for the program that is taking place. How can I take place in the program that is taking place. I understand there will be session taking place in the US I live in Chesapeake, Virginia. USA.

  6. David Callard Friday, 23 March 2018 at 05:36 AM

    I am living in Sydney Australia and am a sufferer of Haemophila A. I am 68 years old and facing a triple bypass heart operation to treat chronic congestive heart failure. Naturally I am very interested in the Haemophila.cure you have developed and am wondering if you have any plans for a trial in Australia. I am a dual citizen of England and Australia and hold passports for both. I would be most grateful for any information you can give me. Thank you.

  7. Leonardo Magalhaes Machado Thursday, 16 August 2018 at 01:44 PM

    How do you sign up for these trials? Or when will this be realised to the public

  8. Faisal Sunday, 3 March 2019 at 11:01 PM

    Very encouraging news for my 13 months old son with Severe Haemophilia A. When we came to know that our little one is diagnosed with the disease, we were shocked and broken. Now after reading this news we have great hopes. Is there any way to find out further about the progress of this study. We are very hopeful and waiting to hear further good news. As a parents we can’t see any child in pain due to this disease.

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