Approved Roctavian ‘liberating’ for 1st US patient treated outside trials

Man with hemophilia A received gene therapy at California outpatient center

Marisa Wexler, MS avatar

by Marisa Wexler, MS |

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In the final days of 2023, an adult with hemophilia A named Maxwell became the first person in the U.S. to receive treatment with the one-time gene therapy Roctavian (valoctocogene roxaparvovec-rvox) — approved in June of last year — outside of clinical trials.

“Receiving this treatment is liberating — I am filled with hope and gratitude knowing treatments finally exist that will allow individuals like me to truly break free from the constraints of this disease and embrace life to the fullest,” Maxwell said in a press release from the Center for Inherited Blood Disorders (CIBD), which administered the therapy.

Maxwell received an infusion of the gene therapy on Dec. 29 at the CIBD, in Southern California, and is now undergoing close follow-up to track the efficacy of the treatment, according to the clinic.

“This is more than a medical breakthrough; it’s a game-changer for me and others living with severe hemophilia A, particularly when considering I was able to drive myself to and from the clinic and did not have to stay overnight in a hospital,” Maxwell said.

Amit Soni, MD, the CIBD’s medical director, said the center “is deeply honored to be part of Max’s journey as the first in the country to receive this newly FDA approved cutting-edge treatment for hemophilia A.”

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Roctavian use aims to potentially eliminate need for replacement therapy

According to the CIBD, the one-time Roctavian infusion is “designed to address the underlying genetic cause of hemophilia A, offering the potential for long-term relief and a significant reduction in the need for traditional clotting factor replacement therapies.”

“Being able to infuse it here at [a patient’s] treatment center,” said Soni, “allows our care team to continue to work collaboratively to ensure patients not only manage their condition but achieve the highest quality of life possible.”

Hemophilia A is caused by mutations in the F8 gene that provides instructions for making the clotting protein factor VIII (FVIII). As a consequence of these mutations, this clotting protein is dysfunctional or absent, leading to the condition’s hallmark symptoms of excessive and prolonged bleeding.

Roctavian, which is sold by BioMarin Pharmaceutical, was approved last June by the U.S. Food and Drug Administration (FDA) as the first gene therapy for hemophilia A. It’s designed to reduce the risk of bleeds in adults with severe hemophilia A who don’t have antibodies against the therapy’s viral vector.

Being able to infuse [Roctavian] here at [a patient’s] treatment center allows our care team to continue to work collaboratively to ensure patients not only manage their condition but achieve the highest quality of life possible.

The treatment works to deliver a functional version of the F8 gene to liver cells, where most clotting factors are made, thereby restoring the body’s ability to produce a working version of the FVIII protein. That’s expected to reduce the risk of bleeds and potentially eliminate the need for conventional routine FVIII replacement therapy.

The FDA’s approval of Roctavian was mainly backed by data from a Phase 3 clinical trial called GENEr8-1 (NCT03370913), which tested the gene therapy in more than 130 men with severe hemophilia A. Results showed that most patients were bleed-free at three years after receiving the one-time therapy and remaining off of prophylactic, or preventive, treatment.

The CIBD noted that it provides “a safety net clinic” offering health care services specifically, as its name suggests, to those with disorders such as hemophilia. The center, opened in 2009 in Orange, treats patients regardless of their ability to pay.