Hemophilia is an inherited disease that affects sufferers for life. Their ability to coagulate is disturbed. In a study, a research team succeeds in starting the production of the coagulation protein – permanently.
A British research team has succeeded in using a new form of therapy to heal people suffering from the so-called hemophilia. People affected by hemophilia are usually not able to produce enough of the so-called coagulation factor IX. Even in the case of relatively minor injuries, this means that the bleeding does not stop due to clotting. Symptoms in severe cases include frequent spontaneous bleeding and abnormal bleeding after minor injury, surgery, or tooth extraction, which can even be fatal.
So far, hemophilia B has been treated with coagulation factor IX infusions, also known as substitution therapy. These need to be administered once or twice a week. Sometimes they are also given “as needed” to treat a persistent bleeding episode.
Research has been going on for years to find ways to permanently cure this lifelong hereditary disease. For the current study, the scientists administered a single gene therapy injection to ten patients. So they smuggled an artificial virus into the body, which is equipped with the components of the missing factor IX. The virus then delivers the information about the added components to the liver, which then begins to produce the clotting protein on its own.
In nine of the ten patients with hemophilia B, the injection resulted in consistently normal levels of factor IX. The researchers report in their study, which was published in the New England Journal of Medicine, that they were able to do without the weekly replacement therapy that had been necessary up to that point. After 26 weeks, patients were enrolled in a long-term study evaluating the safety and durability of protein expression over 15 years. The results were still detectable with a mean follow-up of 27 months.
Only one patient in ten had to resume factor IX replacement therapy. One patient who successfully took part in the study reported that his life now feels “completely normal,” according to the BBC. This includes, among other things, that he can ski and ride a motorcycle.
The study, conducted in the UK, was sponsored by the University College of London and funded by Freeline Therapeutics, the biotechnology company behind the therapy. The lead author of the study, Pratima Chowdary of the Royal Free Hospital and University College London, told the BBC her research group was “very excited about the results”. About a year after the therapy, there was a “transforming effect” in those affected, when people suddenly realized that they no longer had to worry about their illness.