A new gene therapy could pave the way to finally curing hemophilia B

Hemophilia B is a rare genetic condition caused by a lack of blood clotting factor IX (FIX). Since it prevents blood from clotting effectively, the disease leads to uncontrollable bleeding that can be life-threatening. While most people who suffer from the disease inherit the genetic condition from their parents, approximately one-third of cases are brought on by spontaneous gene mutations.

But now, a new gene therapy could be the key to cutting the risk. In a small-scale trial has been conducted over six months, nine out of ten subjects with severe or moderately severe hemophilia responded to a single treatment — one round of FLT180a therapy. It led to the continuous hepatic synthesis of the protein, meaning the participants no longer needed regular injections.

Though the treatment is in its early stages and the trial involved very few people, “[w]e’re very excited by the results,” said Pratima Chowdary, M.D., one of the doctors who developed the treatment. She also believes that curing hemophilia “will be a reality for the majority of the adults in the next one to three years,” according to BBC.

A “miracle” that changes lives

Elliott Mason, who was one of the subjects of the trial, says the treatment has made his life “completely normal,” adding, “I’ve not had any treatment since I had my therapy, it’s all a miracle really, well, it’s science, but it feels quite miraculous to me.”

The current treatment of hemophilia includes getting injections regularly, generally once a week, to make up for the lack of clotting factor IX. However, even that onerous treatment doesn’t always prevent debilitating joint damage.

The new method, on the other hand, delivers several copies of the gene that codes for the clotting factor to liver cells. Rather than requiring the protein from an outside source, it provides the body with the blueprints needed to produce it on its own. So that a single injection of gene treatment could treat the condition for the long term.

Mason also told BBC that receiving the treatment took about an hour. 

Promising data

The results of the clinical trial have demonstrated that out of the 10 individuals, five patients had normal levels of blood-clotting factors while the other three had elevated levels that were still below normal. Only one of them had excessively high factor IX levels, which caused a blood clot to form.

“Removing the need for hemophilia patients to regularly inject themselves with the missing protein is an important step in improving their quality of life,” Chowdary stated in a press release

“This initial data is promising, but we continue to monitor gene therapy trials closely and cautiously, as with all new treatments,” Clive Smith, chairman of the Haemophilia Society told BBC. “If they are shown to be safe and effective, NICE [National Institute for Health and Care Excellence] and the NHS [National Health Service] must work together to make these innovative treatments available.”

Though the study offers hope for the treatment of hemophilia B, it’s been tested on a very small group of subjects. Importantly, one of the patients suffered from a serious blood clot. Therefore, the next step is the Phase III trial which is testing the treatment on a wider group of people.

The results of the study have been published in the journal the New England Journal of Medicine.

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