British doctors may have figured out a “mind-blowing” way to stop hemophilia A. Patients born with this genetic defect are unable to produce a specific kind of protein needed to stop bleeding.
Thirteen patients were given gene therapy at Barts Health NHS Trust, are all are now off the treatment, with 11 of them producing almost normal levels of protein, the BBC reports.
John Pasi, who led the trials at Barts and Queen Mary University of London, said, “This is huge. It’s ground-breaking because the option to think about normalizing levels in patients with severe hemophilia is absolutely mind-blowing.”
Jake Omer from Billericay, Essex was one of the patients in the trial, the 29-year-old says he now feels like he has a new body. Before this, Omer’s body was unable to make clotting factor VIII, so any minor injuries would cause bleeding.
As a child, he says he lost two front teeth and bled for days afterwards. Even the slight impact of walking would result in bleeding in his joints, which would eventually lead to arthritis. For most of his life, Omer has needed at least three weekly injections of factor VIII.
In February 2016, Omer had just one infusion of gene therapy.
I feel like a new person now – I feel like a well-oiled robot,
he said. “I feel I can do a lot more. I feel my body allows me to do more. I don’t think I would have been able to walk 500m without my joints flaring up, whereas now I think sort of two, three, four-mile walk – I could quite easily achieve that.”
Omer relates that he knew the therapy had worked because four months after the treatment, he dropped a gym weight and hit his elbow. He panicked, but after icing the injury, he was surprised to see that everything was back to normal the next day.
The gene therapy is a genetically engineered virus that contains the instructions for the body to make factor VIII. The virus delivers the instructions to the liver, which then makes factor VIII.
The first few trials that used low doses of the gene therapy produced no effective results, so this batch was give higher doses.
Pasi said, “To offer people the potential of a normal life when they’ve had to inject themselves with factor VIII every other day to prevent bleeding is transformational.”
The study was published in the New England Journal of Medicine.