Hemophilia B 'cured' by 'miraculous' treatment in major breakthrough

Hemophilia B ‘cured’ by ‘miraculous’ treatment in major breakthrough

A new treatment is able to effectively cure people with the rare bleeding disorder hemophilia B, doctors say, in a major breakthrough.

The therapy – described by one patient as “transformational” – corrects a rare genetic mutation that causes severe bleeding that can last for long periods, either spontaneously or following injury.

The rare disease is caused by a change in the factor IX gene on the X chromosome.

Normally, when a person cuts themselves, clotting factors mix with blood cells called platelets to stop the bleeding.

But people with hemophilia lack clotting factors and are at risk for heavy bleeding.

The level of gene IX in the blood of hemophiliacs is too low to complete the clotting process. As a result, bleeding can also occur inside the body, joints and skin.

But a medical team from the Royal Free Hospital and University College London now say the majority of adults with haemophilia B could be cured within three years.

During the trial to test the therapy, developed with biotech company Freeline Therapeutics, participants were given a modified virus that provided the instructions to make the missing factor IX gene in the liver – which in turn triggers the production clotting protein.

One participant, Elliott Mason, from London, told BBC News he now feels “completely normal” following a single infusion which took just an hour to flow through his system.

“I haven’t received any treatment since my therapy. It really is a miracle. Well, that’s science, but it seems pretty miraculous to me,” he added.

A common preventative treatment for the disorder involves replacing the missing factor IX or reducing it with a laboratory-made substitute given by regular injections, usually given weekly at home.

Jabs can cost between £150,000 and £200,000 per patient per year and patients can suffer debilitating joint damage.

But, according to the trial results, nine out of 10 patients offered the new treatment no longer need their clotting injections.

Lead author Pratima Chowdary, consultant haematologist at the Royal Free Hospital and professor at University College London, said: “Eliminating the need for haemophilia patients to regularly inject the missing protein is an important step in improving their quality of life.

“The long-term follow-up study will monitor patients for durability of expression and monitoring for late effects.”

She told the BBC there was a “transformational impact” about a year after the therapy, when recipients realized they “didn’t have to worry about [their] hemophilia at all”.

Patients in the trial had to take immunosuppressive drugs for several weeks to months, to prevent their immune systems from rejecting the therapy.

Although the treatment was generally well tolerated, all patients experienced some form of side effects, with an abnormal blood clot in the one who received the highest dose of FLT180a and who had the highest levels of protein .

Freeline co-founder Professor Amit Nathwani of UCL, co-author of the study, said: “Gene therapy is still a young field pushing the boundaries of science for people with diseases serious genetics.”

He said the new trial adds to “the growing body of evidence that gene therapy has the potential to free patients from the challenges of having to adhere to therapy for life or could provide treatment where it doesn’t.” ‘does not exist today’.

The trial, the findings of which were published in the New England Journal of Medicineis the latest in a series of advances in the treatment of both hemophilia A, which is caused by a mutation in a different gene, and hemophilia B.

Since the liver continues to develop before the age of 12, doctors hope therapy can be offered from then on.

It is not yet known how much the new gene therapy will cost or how long it will remain effective, although current estimates suggest at least a decade.

About 85% of people with hemophilia suffer from hemophilia A, which is caused by a deficiency in blood clotting factor VIII.

#Hemophilia #cured #miraculous #treatment #major #breakthrough

Leave a Comment

Your email address will not be published.