Revolutionary gene therapy cures hemophilia patients

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A “revolutionary” therapy has virtually cured people with hemophilia B, according to British doctors. The treatment corrects a genetic defect that prevents blood from clotting completely, stopping bleeding.

Elliott Mason, who was part of the study that tested the therapy, says his life now seems “completely normal.”

The medical team says most adults with hemophilia can be cured within the next three years with therapy.

From the day Elliott was born, he was unable to make enough of a crucial protein called clotting factor IX. When people have a cut in their skin, clotting factor IX is one of the proteins that stops bleeding.

Like many hemophiliacs, Elliott grew up afraid of getting hurt. He says his teachers “wrapped me in bubble wrap.” The sport he most wanted to play—rugby—was completely out of the question.

“I didn’t like the fact that I was different and unable to get things done,” he says.

At one point, Elliott was taking factor IX injections every other day to keep him from experiencing potentially fatal bleeding.

But he managed to stay healthy, unlike many others with hemophilia who face severe joint damage from bleeding.

“We have many young patients in excruciating agony and there is nothing we can do to reverse the damage to their joints,” says Pratima Chowdary, a professor at the Royal Free Hospital and University College London who worked on the research.

gene therapy

Elliot was given a genetically engineered virus that contained instructions for producing the missing factor IX.

The virus acts as a sort of “microscopic postman” that delivers instructions to the liver, which then starts producing the clotting protein.

Elliott received the infusion in just one session, which took about an hour.

He remembers being surprised to see the amount of factor IX in his blood jump from just 1% of normal levels to normal.

The findings, published in the New England Journal of Medicine, showed that 9 out of 10 patients who received the therapy did not need further injections of clotting factor IX.

“I haven’t had any other treatments since I had my therapy; it’s all really a miracle. Well, it’s science, but it feels like a miracle to me,” says Elliott.

“My life is completely normal, there’s nothing I have to stop and think ‘how can my hemophilia affect this?'” says Elliott. Now he can ski and ride a motorcycle, for example.

“We are very excited about the results,” says Professor Chowdary.

She says there was a “revolutionary impact” on patients’ lives about a year after therapy, when they realized, “I don’t have to worry about my hemophilia.”

This study is just the latest in a series of advances in the treatment of hemophilia A and B.

Chowdary says he is now looking for a new challenge, as curing hemophilia “will be a reality for most adults within the next one to three years.”

But there are still questions that need to be answered:

  • How much will gene therapies cost? Current clotting factor injections can cost between £150,000 and £200,000 per patient per year.
  • How much time does the treatment last? Studies indicate that it lasts for at least a decade, but no one knows for sure.
  • How early in life can therapy be given? Before age 12, the liver is still developing, but scientists hope the therapy can be used after that age.

Clive Smith, president of the Haemophilia Society, an NGO supporting hemophiliacs, says: “These early data are promising, but we continue to monitor gene therapy trials closely and cautiously, as with all new treatments.”

“If they prove to be safe and effective, NICE [Instituto Nacional de Excelência em Saúde e Cuidados] and the NHS [sistema britânico público de saúde] must work together to make these innovative treatments available.”

– Text originally published in https://www.bbc.com/portuguese/geral-62249613

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