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Scientists Are Hopeful About Gene Therapy To Cure People Who Thought They’d Have Hemophilia Forever

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Scientists are hopeful about two gene therapy trials helping patients with hemophilia, a genetic disorder that keeps blood from clotting properly and affects 20,000 people in the U.S.

The gene therapy technique involves inserting a mutated version of the blood-clotting gene into a virus and delivering it to the patient’s body, often through an intravenous drip. But the treatment could be described as a one-hit wonder — if it stops working, scientists have not found a way to successfully administer the therapy a second time.

Global biotech company BioMarin ran a trial for patients with hemophilia A in which most patients reached normal levels of blood-clotting protein in their blood, reported The New York Times Tuesday. The levels dropped after a year but remained high enough to make a positive difference for patients for whom the therapy worked.

American pharmaceutical giant Pfizer is getting in on an experimental treatment by Spark Therapeutics that has kept hemophilia B patients’ protein levels “sufficient for blood to clot” for two years, reported TheNYT. However, shares of Spark slid by 30 percent when it shared results on Aug. 7 of a 12-patient trial that has mostly good results but sent one patient to the hospital, reported CNBC.

The trials are making a big difference for patients like 54-year-old Jay Konduros, who thought hemophilia B would have “lifelong” control over him, according to TheNYT.

The Canada native joined Spark’s gene therapy trial, and thanks to a 30-minute IV drip treatment, Konduros’s blood-clotting protein levels are at nearly 50 percent. His brother Bill Konduros, 59, who also has hemophilia B and joined the trial, is at approximately 75 percent.

The one-and-done aspect of the gene therapy trials are a far cry from hemophiliacs’ typical routine injecting themselves with the proteins they lack “every couple of days,” reported TheNYT. The shots can cost up to $1 million per year, according to BioSpace.com.

Trials similar to BioMarin’s and Spark’s raised 10 patients’ blood-clotting protein levels to almost normal at University College London more than a decade ago, reported TheNYT. Another similar trial reported that gene therapy had essentially ceased helping two of its 12 patients in early August.

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