First-Ever Gene Therapy for Severe Hemophilia A Gains FDA Approval

 

For the first time ever, people living with severe hemophilia A will have access to a gene therapy solution designed to treat their condition at the source. In a late June 2023 news release, the FDA approved the company BioMarin’s gene therapy ROCTAVIAN (valoctocogene roxaparvovec-rvox). ROCTAVIAN is the first and only approved gene therapy for people with severe hemophilia A without AAV5 antibodies. 

What is ROCTAVIAN?

ROCTAVIAN delivers a functional copy of the F8 gene—the same gene which, when mutated, causes hemophilia A—using an adeno-associated viral vector (AAV). Administered via a single infusion, ROCTAVIAN prompts the body to create factor VIII (FVIII), which plays a role in blood coagulation. Many people with severe hemophilia A will use clotting factors as prophylaxis (i.e. to proactively prevent bleeding or limit the severity of bleeds). Study data suggests that ROCTAVIAN can limit the need for prophylaxis. 

Prior to its American approval, ROCTAVIAN was approved for use in the European Union. If you are in the United States and want to learn more about ROCTAVIAN and drug access, you can call 1-833-762-8284 or email [email protected]

BioMarin will also work with insurance companies to ensure patient access to the drug. If the treatment fails for a patient, BioMarin’s outcomes-based warranty will provide 100% reimbursement to insurers. 

ROCTAVIAN Safety Information

Side effects from ROCTAVIAN may include injection-site reactions, anaphylaxis, nausea and vomiting, abdominal pain, and headaches. Because AAV vectors often target the liver, people taking this therapy should avoid drinking alcohol. ROCTAVIAN may increase the risk of developing hepatocellular carcinoma (HCC). If you take ROCTAVIAN and develop any malignancies (cancers), please get in touch with BioMarin by calling 1-866-906-6100. Learn more about ROCTAVIAN here.

Data Supporting the Approval

In part, this approval hinged on data from the Phase 3 GENEr8-1 clinical trial. 134 individuals with severe hemophilia A received ROCTAVIAN. They were then followed for at least a 3-year period. Findings from the study show that:

  • The annualized bleeding rate fell by 52% in those taking ROCTAVIAN when compared to just prophylaxis. Learn more about annualized bleeding rate from the Journal of Clinical Medicine (not associated with this trial). 
  • Spontaneous bleeding events, as well as bleeding in the joints, were significantly less common in people using ROCTAVIAN over prophylaxis. In fact, many people taking ROCTAVIAN stopped using supplemental prophylaxis; the study suggests that 96.8% of study participants could at least highly reduce prophylaxis use.
  • ROCTAVIAN reduced treatable bleeds by 82.9%. 

Moving forward, BioMarin is continuing to study ROCTAVIAN in a number of ongoing studies, as well as monitoring the long-term treatment effects of the treatment for 15 years. 

The Basics of Hemophilia A

Also known as: classic hemophilia; factor VIII deficiency

Hemophilia A is an inherited bleeding disorder; the F8 mutations which cause this disorder prevent the body from creating enough factor VIII. As a result, people with hemophilia A experience excessive and prolonged bleeding since their blood cannot clot properly. It is extremely rare for this condition to happen in females. An estimated 60% of people with this condition have severe manifestations, including:

  • Easy bruising and bleeding
  • Frequent nose bleeds
  • Urinary or digestive tract bleeding (leading to bloody urine and/or stool)
  • Excessive bleeding after cuts, trauma, dental work, surgery, or other injuries
  • Joint pain and swelling
  • Restricted movement
  • Hematomas under the skin
  • Heavy menstruation or bleeding after childbirth (in females)
Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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