Gene Therapy Used to Treat Hemophilia

Hemophilia is a rare bleeding disorder in which blood doesn’t clot normally. Hemophilia B is caused by mutations in the gene for coagulation factor IX, a protein that helps blood to clot. People with missing or low levels of factor IX bleed longer than healthy people.

A gene therapy treatment restored blood clotting and transformed the disease from severe to mild. Image credit: NIH

Researchers from St. Jude Children’s Research Hospital, the University College London, and the Royal Free Hospital have been studying the long-term effectiveness and safety of using gene therapy to treat the disease.

The approach takes advantage of viruses that infect humans but don’t cause disease, called vectors. When the human factor IX gene is inserted into these vectors, the viruses deliver the gene into the cells they infect. The cells then manufacture functional protein.

Within 4 months of receiving the modified gene therapy, the patients’ blood levels of factor IX activity increased from less than 1% of normal to between 1% and 6% of normal.

Side effects were mild. The most common adverse effect, seen in 4 of the 6 men who received a high dose of the virus, was a rise in levels of a liver enzyme—a sign of liver inflammation that was easily treated. NIH | DECEMBER 8, 2014

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