Transformational therapy - 29th August 2022

A 'transformational' therapy has cured people with haemophilia B, claim British doctors.

The treatment corrects haemophilia B, a genetic defect that leaves people's blood trying unsuccessfully to clot and stop bleeding. When you cut yourself and it scabs over, a crucial protein called clotting factor IX stops the bleeding. People with haemophilia B have insufficient levels of factor IX.

Patients in the trial were given an engineered virus, filled with the instructions for manufacturing the missing factor IX. The virus acts like a microscopic postman, delivering the blueprints to the liver, which causes it to produce the clotting protein.

The experts indicated these advances could revolutionise the lives of haemophiliacs in the next few years.

Elliott Mason, who was part of the trial testing the therapy, says his life now feels "completely normal". From the day he was born, Elliott was unable to make enough clotting protein. It meant Elliott grew up "anxious of getting hurt", and teachers "wrapped me up in bubble wrap". The sport he wanted to play - rugby - was completely off limits.

Elliott had been having injections of factor IX every other day to prevent a deadly bleed. However, he managed to stay healthy, unlike many other haemophiliacs, who face severe damage to their joints from the bleeding.

The findings, published in the New England Journal of Medicine, showed nine out of 10 patients given the therapy no longer needed their clotting factor IX injections.

"We're very excited by the results," reported Prof Chowdary. "There was a "transformational impact" about a year after the therapy, when suddenly people realised: "I don't need to worry about my haemophilia at all."

This breakthrough is the most recent in a succession of successful trials in treating both haemophilia A and B.