Hemophilia Research Update: February 2019

Hemophilia is a rare genetic bleeding disorder, affecting around 20,000 people in the U.S. Most cases of hemophilia are inherited, but for about 30% of patients, it's caused by a spontaneous mutation in a gene associated with blood clotting.

The condition can be difficult to treat, but the latest options look promising for improving quality of life for those living with hemophilia.

We gathered some of the latest research into gene therapy for hemophilia, physical therapy to help reduce symptoms, and other new options for patients.

Newly approved option for hemophilia A patients with and without antibodies

One significant challenge for treating hemophilia A is the development over time of antibodies that inhibit activity of factor VIII – the gene associated with blood clotting impacted in hemophilia A. For reasons researchers don’t understand, these antibodies attack the clotting factor added to the blood in traditional hemophilia treatment, making it less effective.

Ultimately, researchers hope to prevent their development, but in the meantime, the FDA recently approved a treatment specifically for patients with factor VIII inhibitors. Patients who took the treatment, emicizumab-kxwh (marketed as Hemlibra by Genentech), experienced fewer bleeding episodes per year (2.9) compared with those who did not receive the treatment (23.3).

In 2018, the FDA also approved Hemlibra for patients without inhibitors, giving all hemophilia A patients another treatment option.

Progress for a hemophilia B treatment

Researchers have also made progress on a treatment for hemophilia B, which affects the factor IX clotting agent in the blood. Hemophilia B is more rare than type A.

A few different clinical trials are investigating gene therapy for hemophilia B, which would target factor IX with a corrective copy of the gene. Sangamo Therapeutics, Inc. recently began enrolling patients into a trial for SB-FIX, which inserts a correct copy of the gene into liver cells. The goal is that this kind of treatment is the only one a hemophilia B patient would need for a lifetime.

More research needed for physiotherapy and rehabilitation programs for hemophilia patients

People with hemophilia may benefit from physical therapy, but more research is needed on specific programs and benefits, according to a new review study.

Bleeding into joints is a common symptom of hemophilia that’s treated with medication. But research suggests that physiotherapy may also help reduce bleeding and minimize damage to joints.

While guidelines support physiotherapy to control disease symptoms and reduce damage to joints, there are not established guidelines on the ideal rest period after exercising.

The study concludes that more research is needed to identify the best physical therapy and rehabilitation programs to support hemophilia patients.

Hemophilia research can’t move forward without volunteers. If you’re interested in finding a trial near you, start your search below.