A new gene therapy has offered hope for a cure against hemophilia B, a genetic clotting disorder.
One patient called an experimental treatment a “miracle” that changed his life.
But it is still in the early stages of development and a patient association has urged caution.
A new gene therapy has offered hope of a cure for patients with hemophilia B.
The results of an initial clinical trial were published in the New England Journal of Medicine on Wednesday.
The 26-week trial took place in 2020. In the end, nine of the 10 patients who received the single treatment no longer needed regular injections to treat the condition.
The treatment is still in very early stages of development and ten people is a small sample. But a doctor who developed the treatment was optimistic about its wider potential, saying it could cure most adults with hemophilia B within three years, according to the BBC.
A patient association described the results as encouraging but said more research was needed before using it more widely. Chronic disease experts are often wary of talking about “cures” in their early stages for fear of giving false hope.
Hemophilia B is a genetic condition that affects blood clotting. This means that people with the condition will bleed longer. In severe cases, it can cause spontaneous bleeding in organs and joints.
To counteract these effects, patients are given regular injections of material to help the blood clot, a complicated process.
Elliot Mason, a patient at the trial, told the BBC he felt as if he had grown up “anxious to get hurt”. At one point, he had to get an injection every day, the BBC reported.
Mason received the treatment as part of the clinical trial. He said he hasn’t needed an injection since and has taken up skiing and motorcycle riding.
“My life is completely normal, there’s nothing I have to stop and think ‘how can my hemophilia affect this?'” he told the BBC.
“It’s all a miracle really, well it’s science, but it seems pretty miraculous to me,” he said.
The treatment works by delivering multiple copies of the gene that encodes the clotting factor to liver cells. It provides the body with the blueprints to make the protein itself, rather than needing it from an outside source.
The theory is that a single injection of the gene treatment could treat the condition for years or decades. Receiving the treatment took about an hour, Mason told the BBC.
Study participants received doses of different strengths along with immunosuppressants.
According to the results of the study, five out of ten patients had normal levels of blood clotting material after treatment. Three had increased levels, but still below what is considered normal.
One had abnormally high levels of factor IX, which led to the development of a blood clot, according to the New England Journal. One patient saw his levels decrease over the course of 26 weeks and had to resume injections.
Professor Pratima Chowdary, a hematologist at the Royal Free Hospital and University College London and lead author of the study, told the BBC she believes most adults with hemophilia B can be cured within three years.
“Removing the need for hemophiliac patients to regularly inject themselves with the missing protein is an important step in improving their quality of life,” Chowdary said in a press release.
Clive Smith, president of the UK-based Haemophilia Society patient association, was more cautious: “These early data are promising, but we continue to monitor gene therapy trials closely and cautiously, as with all new treatments.” reported the BBC.
Study participants agreed to be followed for another 15 years to see how long the treatment would last and to monitor potential effects that could arise later, according to an accompanying press release.
The treatment has not been tested in children, whose livers are still developing until age 12, according to the BBC.
The next step in pharmaceutical product development is typically testing the product on a broader set of people in what is known as a Phase III study.
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