Etranacogene dezaparvovec, sold under the brand name Hemgenix is a

gene therapy Gene therapy is a medical field which focuses on the genetic modification of cells to produce a therapeutic effect or the treatment of disease by repairing or reconstructing defective genetic material. The first attempt at modifying human DN ...

used for the treatment of

hemophilia B Haemophilia B, also spelled hemophilia B, is a blood clotting disorder causing easy bruising and bleeding due to an inherited mutation of the gene for factor IX, and resulting in a deficiency of factor IX. It is less common than factor VIII defi ...

. Etranacogene dezaparvovec is an

adeno-associated virus Adeno-associated viruses (AAV) are small viruses that infect humans and some other primate species. They belong to the genus ''Dependoparvovirus'', which in turn belongs to the family ''Parvoviridae''. They are small (approximately 26 nm in di ...

vector-based gene therapy which consists of a viral vector carrying a gene for clotting

Factor IX Factor IX (or Christmas factor) () is one of the serine proteases of the coagulation system; it belongs to peptidase family S1. Deficiency of this protein causes haemophilia B. It was discovered in 1952 after a young boy named Stephen Christmas w ...

. The gene is expressed in the

liver The liver is a major Organ (anatomy), organ only found in vertebrates which performs many essential biological functions such as detoxification of the organism, and the Protein biosynthesis, synthesis of proteins and biochemicals necessary for ...

to produce Factor IX

protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...

, to increase blood levels of Factor IX and thereby limit bleeding episodes. Hemophilia B is a genetic bleeding disorder resulting from missing or insufficient levels of blood clotting Factor IX, a protein needed to produce blood clots to stop bleeding. The most common adverse reactions include liver enzyme elevations,

headache Headache is the symptom of pain in the face, head, or neck. It can occur as a migraine, tension-type headache, or cluster headache. There is an increased risk of depression in those with severe headaches. Headaches can occur as a result ...

, mild infusion-related reactions and flu-like symptoms. Etranacogene dezaparvovec was approved for medical use in the United States in November 2022.

Medical uses

Etranacogene dezaparvovec is

indicated In medicine, an indication is a valid reason to use a certain test, medication, procedure, or surgery. There can be multiple indications to use a procedure or medication. An indication can commonly be confused with the term diagnosis. A diagnosis ...

for the treatment of adults with hemophilia B (congenital Factor IX deficiency) who use Factor IX prophylaxis therapy, or have current or historical life-threatening hemorrhage, or have repeated, serious spontaneous bleeding episodes.

History

The safety and effectiveness of etranacogene dezaparvovec were evaluated by the US

Food and Drug Administration The United States Food and Drug Administration (FDA or US FDA) is a List of United States federal agencies, federal agency of the United States Department of Health and Human Services, Department of Health and Human Services. The FDA is respon ...

(FDA) in two studies of 57 adult men 18 to 75 years of age with severe or moderately severe hemophilia B. Effectiveness was established based on decreases in the men’s annualized bleeding rate (ABR). In one study, which had 54 participants, the subjects had increases in Factor IX activity levels, a decreased need for routine Factor IX replacement prophylaxis, and a 54% reduction in ABR compared to baseline. The FDA granted the application for etranacogene dezaparvovec

priority review Priority review is a program of the United States Food and Drug Administration (FDA) to expedite the review process for drugs that are expected to have a particularly great impact on the treatment of a disease. The priority review voucher program ...

orphan drug An orphan drug is a pharmaceutical agent developed to treat medical conditions which, because they are so rare, would not be profitable to produce without government assistance. The conditions are referred to as orphan diseases. The assignment of ...

, and

breakthrough therapy Breakthrough therapy is a United States Food and Drug Administration designation that expedites drug development that was created by Congress under Section 902 of the 9 July 2012 Food and Drug Administration Safety and Innovation Act. The FDA's "br ...

designations. In November 2022, the FDA granted approval of Hemgenix to CSL Behring LLC.

Society and culture

Economics

Etranacogene dezaparvovec costs per dose. The manufacturer claims that the drug will reduce total health care costs because patients will have fewer bleeding incidents and need fewer clotting treatments.

Legal status

On 15 December 2022, the

Committee for Medicinal Products for Human Use The Committee for Medicinal Products for Human Use (CHMP), formerly known as Committee for Proprietary Medicinal Products (CPMP), is the European Medicines Agency's committee responsible for elaborating the agency's opinions on all issues regarding ...

(CHMP) of the

European Medicines Agency The European Medicines Agency (EMA) is an agency of the European Union (EU) in charge of the evaluation and supervision of medicinal products. Prior to 2004, it was known as the European Agency for the Evaluation of Medicinal Products or Euro ...

(EMA) adopted a positive opinion, recommending the granting of a conditional marketing authorization for the medicinal product Hemgenix, intended for the treatment of severe and moderately severe hemophilia B. The applicant for this medicinal product is CSL Behring GmbH. Text was copied from this source which is copyright European Medicines Agency. Reproduction is authorized provided the source is acknowledged.

References

External links

* * * * Antihemorrhagics Breakthrough therapy Gene therapy Haemophilia Orphan drugs {{blood-drug-stub