Life with hemophilia B can be fraught with limitations for patients, related to both the nature of the disease and the complexity of its treatments. Extensive lifestyle modification is needed to avoid risks that could result in dangerous hemorrhaging. The genetic disorder is typically managed through intravenous infusions that are required weekly or more frequently. The burden of disease is significant and adversely affects patients and caregivers in numerous ways. A new FDA approval for a gene therapy has the potential to bring freedom from some of that burden.

A recent study that assessed data associated with patients who received therapy at federally funded hemophilia treatment centers (HTCs) between 2012 and 2018 determined the present estimate of US individuals with hemophilia is near 33K. Most of those patients are male since hemophilia is recessive and linked to the X chromosome. The surveillance data helped researchers understand more about the demographics of affected individuals. Still, to continue improving care, access to services, and treatment, information collection will need to be perpetual so researchers may gain a deeper understanding of health trends and needs. Healthcare providers can help patients connect and become involved with the Community Counts Registry for Bleeding Disorders Surveillance to aid in continuing the effort. If patients or providers need to find HTCs, the HTC Directory, which is divided into ten regions across the US, is available for researching details about and communicating with key staff within the centers.

Access to HTCs is a crucial part of life for patients with hemophilia B, also called factor IX (FIX) deficiency. The National Hemophilia Foundation’s Medical and Scientific Advisory Council has deemed recombinant clotting factor products, FIX, to be the standard of care, as they are created without human plasma and are safer. In order to receive treatment, many patients visit HTCs every three days or twice a week to obtain their infusions. The infusions are given through the arm or a port in the chest. When the clotting factors are restored, patients’ systems can resume normal clotting functions temporarily.

The current standard of prophylactic care does help a great deal for patients to reduce the risk of fatal bleeding events and disabling joint damage from bleeding. A new FDA approval for a gene therapy that aids the body in producing its own FIX continuously may become a new preferred treatment option for certain patients. Called Hemgenix (etranacogene dezaparvovec-drlb) suspension, for intravenous infusion, the therapy is indicated as a one-time treatment for adults with hemophilia B. Hemgenix is able to target cells in the liver with a copy of the Padua variant of human coagulation FIX. This results in the generation of FIX proteins up to eight times as active. The targeted cells retain the new genetic instructions and allow the body to maintain necessary FIX levels. In the trial that preceded the FDA approval of Hemgenix, 96% of patients were able to discontinue prophylactic FIX treatment.

Long-term study for the therapy is needed. Researchers do not yet have a full understanding of the effects on the liver and what the potential risks for hepatocellular carcinoma might be. However, at this point, the possibility of relief from continual, life-disrupting infusion regimens is an encouraging development for those affected by hemophilia. Stay informed about emergent drug information, including treatment options for hemophilia, by updating or registering your profile to receive email alerts and other critical drug information updates from PDR. You can also stay current by using the official PDR app, mobilePDR, available for free from your favorite app stores.