NIH is dedicated to researching rare diseases and collaborating with partners to bring products for rare diseases to market, not only during Rare Disease Week but throughout the year. As a result of such work,  on November 22, 2022, the U.S. Food and Drug Administration approved Hemgenix®, the world’s first gene therapy for hemophilia B.  

Hemophilia B is a serious genetic bleeding disorder that is a result of insufficient levels of blood clotting Factor IX, which is a protein needed to produce blood clots to stop bleeding. Previously, treatment involved intravenous (IV) infusions of Factor IX replacement products to aid the body’s ability to stop bleeding and prevent future bleeding episodes.

Hemgenix itself is a one-time gene therapy for the treatment of adults living with hemophilia B. It is an Adeno-Associated virus (AAV) vector-based gene therapy for adults with Hemophilia B, or otherwise have a life-threatening risk of hemorrhage, or have repeated spontaneous bleeding episodes. The gene is expressed in the liver to produce Factor IX protein which then allows patients to increase their own blood levels of Factor IX which in turn limits bleeding episodes.

Hemgenix was developed and launched by NIH’s licensee uniQure , N.V., and its sublicensee CSL Behring.  NIH’s contributions from NHLBI and NIDCR scientists were a method of delivering a heterologous nucleic acid or gene of interest to target cells using an Adeno-Associated Virus of serotype 5 (AAV5) as well as a novel method of producing the virus in insect cells. 

The Licensing Executives Society (LES) has recognized with its “Deals of Distinction” Award licenses granted by the NIH intramural research program to uniQure N.V. based in Amsterdam along with its global partner CSL Behring, which facilitated bringing this treatment for hemophilia B to market. It represents an historic achievement based on more than a two decades of research and clinical development through a government /industry partnership and license agreements.