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First Gene Therapy for Hemophilia A Approved in the US

Red blood cells.
Credit: ANIRUDH / Unsplash.
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A life-changing  treatment for people with haemophilia A, which was developed at UCL and licensed by UCLB to BioMarin Pharmaceuticals Inc., has been approved by the United States’ Food and Drug Administration (FDA).

Roctavian (valoctocogene roxaparvovec) has become the first ever gene therapy for adults with severe haemophilia A to be approved by the FDA, meaning it can be sold as a treatment for patients with the disease. It follows a similar approval in August 2022 by the European Commission.

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Haemophilia A is a rare genetic bleeding disorder, where a genetic mutation results in a deficiency of Factor VIII, a blood clotting protein normally produced by the body, which can mean bleeding is harder to control and is life-threatening in severe cases. Haemophilia A can seriously impact on quality of life because of the harm from bleeding, the need to manage the risk caused by physical activity, and the limitations of previous treatments.

Currently, haemophilia A requires ongoing treatment throughout patients’ lives, with regular injections to replace the missing Factor VIII.

Roctavian is ground-breaking because it is a one-time, long-term treatment, using a gene therapy approach to treat the disease and enable people with haemophilia A to increase their levels of Factor VIII. The active Factor VIII gene is delivered by an engineered adeno-associated virus to deliver genetic material into cells. The gene is then expressed in the liver, which produces the Factor VIII protein, improving the ability of the body to control bleeding without regular injections.

The technology was developed by Professor Amit Nathwani (UCL Cancer Institute and Institute of Immunity & Transplantation) and his team at UCL and St. Jude Children’s Research Hospital, USA. It was licensed by UCLB, the commercialisation company for UCL, to BioMarin Pharmaceuticals Inc. in 2013.

Professor Nathwani said: “It is humbling to be involved in the creation of the first gene therapy for patients with severe haemophilia A. Current treatment is effective but highly demanding requiring regular lifelong injections. Most severe haemophilia A patients suffer recurrent break-through bleeding into joints despite treatment that ultimately leads to disability and chronic pain. The approval of Roctavian, is an important and long-awaited advance that addresses the genetic cause of the condition. Roctavian is a one-time gene therapy that offers patients long term protection from bleeds and avoids the burden of regular infusions.”

Biomarin’s GENEr-8, the longest global Phase 3 study to date for any gene therapy in haemophilia, was key to achieving the approval of Roctavian by the FDA. It found that the therapy was effective in reducing the rate of bleeding in a cohort of 134 patients for at least three years.

Professor Geraint Rees, UCL Vice-Provost (Research, Innovation and Global Engagement) said: “Creating the first long-term treatment for severe haemophilia A will change lives, and proving its effectiveness and achieving FDA approval is a major achievement. It is a prime example of how our approach to industry-academic engagement is directly benefitting society.”

UCL is a recognised leader in transformative gene therapies. The success of Roctavian follows a number of recent milestones for UCLB’s gene therapy spinouts, including Freeline’s first patient dosed with a novel gene therapy candidate for Gaucher Disease, and the use of spinout Orchard Therapeutic’s Libmeldy by the NHS to treat children with metachromatic leukodystrophy, an otherwise fatal disorder.

Richard Fagan, Director of BioPharm at UCLB, said: “Our partnership with BioMarin has spanned over a decade. Since licensing the technology to BioMarin, the company has taken forward Roctavian’s pioneering clinical development, and undertaken some of the most extensive clinical trials for a gene therapy in the world. The successful FDA approval is a significant achievement for UCL and UCLB and ultimately Haemophilia patients.”

This article has been republished from the following materials. Note: material may have been edited for length and content. For further information, please contact the cited source.