Etranacogene dezaparvovec 100 tera genome copies/10ml solution for infusion vials

Hemophilia B - also called factor IX deficiency or Christmas disease - is an X-linked genetic disorder resulting in an absence or deficiency of clotting factor IX.[L44176] Clotting factors, including factor IX, are necessary components of the signaling cascade responsible for blood clotting and subsequent wound healing.[L44181] Symptoms of hemophilia B, therefore, involve a heightened susceptibility to bleeding episodes - in mild cases, bleeding may only occur after injury, while in more severe cases bleeding may occur after a minor injury or even spontaneously.[L44181]

Hemophilia B is the second most common type of hemophilia,[L44181] with a prevalence of approximately one in 40,000.[L44161] Men are most likely to experience symptomatic illness due to the X-linked provenance of the disorder.[L44161] Treatment of hemophilia B primarily involves the routine replacement of factor IX using recombinant or donor-derived factor IX products that, while effective, may be burdensome for the patient due to the requirement of routine intravenous infusions.[L44161][L44181]

Etranacogene dezaparvovec (Hemgenix, CSL Bering LLC) is a gene therapy for the treatment of hemophilia B that provides a new treatment modality for its patients. The therapy involves a one-time infusion of a viral vector carrying a codon-optimized DNA sequence of the gain-of-function Padua variant of human Factor IX controlled by a liver-specific promotor 1.[L44156] It delivers a copy of the deficient gene that results in cell transduction and an eventual increase in circulating factor IX activity.[L44156] Etranacogene dezaparvovec was approved by the FDA in November 2022 for the treatment of select patients with hemophilia B, becoming the first gene therapy approved for this indication.[L44161] It is additionally notable for its cost per treatment - approximately 3.5 million USD - earning it the title of most expensive drug in the world.[L44186] In December 2022, the EMA's Committee for Medicinal Products for Human Use (CHMP) recommended etranacogene dezaparvovec be granted marketing authorization for the treatment of severe and moderately severe Haemophilia B.[L45255] Etranacogene dezaparvovec was approved by the EMA in February 2023[L45439][L45444] and by Health Canada in October 2023.[L48801]