7 hours ago
By James Gallagher Health and Science Correspondent
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Photo credit, Elliott Mason
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Elliott Mason was born unable to produce enough clotting factor IX, a crucial protein that helps prevent bleeding
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According to British doctors, a “revolutionary” therapy has successfully cured people with haemophilia B, a bleeding disorder.
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The treatment corrects a genetic defect that causes people’s blood to have difficulty clotting and to stop bleeding.
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Elliott Mason, who took part in the treatment trial, says his life is now “completely normal”.
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According to experts, advances like this could revolutionize the lives of adults with hemophilia in the coming years.
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From the day he was born, Elliott was unable to produce enough of a crucial protein called coagulation factor IX.
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When you cut yourself and the skin scabs over, coagulation factor IX is one of the proteins that stops the bleeding.
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Elliott therefore grew up “afraid of getting hurt”, and the teachers “wrapped me in bubble wrap”.
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The sport he wanted to practice – rugby – was completely forbidden to him.
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“I didn’t like being different and not being able to do certain things,” he says.
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At one point, Elliott had to receive injections of factor IX every other day in order to prevent a fatal hemorrhage.
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But he managed to stay healthy, unlike many other hemophiliacs whose joints are badly damaged by bleeding.
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“We have a lot of young patients who are in excruciating pain and there is nothing we can do to reverse the joint damage,” says Professor Pratima Chowdary, of the Royal Free Hospital and University College London.
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Genetical therapy
Elliot received a modified virus containing the instructions to make the missing factor IX.
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The virus acts as a microscopic factor that transmits instructions to the liver, which then begins to produce the clotting protein.
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It was a one-time infusion that took about an hour to flow through Elliott’s body.
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He remembers being “stunned” to see the amount of factor IX in his blood go from just 1% of normal to normal.
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Photo credit, Getty Images
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Elliott says the treatment made his life “completely normal”, without him having to worry about the consequences of hemophilia
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The results, published in the New England Journal of Medicine, show that nine out of ten patients who received the therapy no longer needed their clotting factor IX injections.
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“I haven’t had any treatment since I went to therapy, it’s a real miracle, it’s science, but I feel like it’s miraculous,” says Elliott, who lives now in London.
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My life is completely normal, there is nothing that makes me stop and think “how can my hemophilia affect this?”.
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For Elliott, that includes skiing and motorcycling.
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“Very enthusiastic”
“We are very excited about the results,” Prof Chowdary said.
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She says there was a “transformational impact” about a year after therapy, when people suddenly realized, “I don’t need to worry about my hemophilia anymore.”
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This trial is just the latest in a series of breakthroughs in the treatment of hemophilia A and B.
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Professor Chowdary told me that she was now “looking for her next job”, as the treatment of haemophilia “will be a reality for the majority of adults within one to three years”.
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But there are still questions to be answered:
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- How much will gene therapies cost? Current clotting factor injections can cost between 150,000 (115,751,140 FCFA) and £200,000 (154,334,860 FCFA) per patient per year.
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How long will the treatment last? Studies suggest it will last at least ten years, but no one is sure.
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At what age can the treatment be given? Before the age of 12, the liver is still developing, but scientists hope it will be an option from then on.
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Clive Smith, president of the Hemophilia Society, explains: “These early data are promising, but we continue to follow gene therapy trials closely and cautiously, as with all new treatments. “If it is proves they are safe and effective, the NICE [National Institute for Health and Care Excellence] and the NHS must work together to make these innovative treatments available.”
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