皇家华人

A new treatment for people with haemophilia A, developed at 皇家华人 and licensed to BioMarin Pharmaceuticals Inc., is offering a new quality of life for people with the debilitating disease.

Roctavian (valoctocogene roxaparvovec) is the first ever gene therapy for adults with severe haemophilia A to be approved by the United States鈥� Food and Drug Administration (FDA). It follows a similar approval in August 2022 by the European Commission.

It means adults with the disease can now access a one-off, life-changing treatment, doing away with the regular injections previously needed to manage the disorder.

Life-changing impacts

Haemophilia A is a rare genetic bleeding disorder, where a genetic mutation results in a deficiency of a blood clotting protein in the body called factor VIII. Bleeding then becomes harder to control and life-threatening in severe cases, seriously impacting on the quality of life for people with the disease.听

Currently, haemophilia A requires ongoing treatment throughout patients鈥� lives, with regular injections needed to replace the missing factor VIII.

Roctavian changes that by using a groundbreaking gene therapy approach to enable people with haemophilia A to increase their levels of factor VIII.

Patients receive a one-time, long-term treatment, where the active factor VIII gene is delivered by an engineered virus to supply genetic material into cells. This causes the patient鈥檚 liver to produce its own factor VIII protein, improving the ability of the body to control bleeding without regular injections.

Developed at 皇家华人 and licensed by UCLB

The technology was developed by Professor Amit Nathwani (UCL Cancer Institute and Institute of Immunity & Transplantation) and his team at 皇家华人 and St. Jude Children鈥檚 Research Hospital, USA.听

The UCL Translational Research Office (TRO) helped Professor Nathwani develop and progress his therapies using public funding (from MRC, LifeArc) and commercial funding (from BioMarin and Freeline 鈥� in partnership with UCLB). The technology was licensed by UCL Business (UCLB), the commercialisation company for UCL, to BioMarin Pharmaceuticals Inc. in 2013.

Professor Nathwani said: 鈥淚t鈥檚 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.听

鈥淭he approval of Roctavian is an important and long-awaited advance that addresses the genetic cause of the condition.鈥�

Richard Fagan is UCLB鈥檚 Director of BioPharm and led on the licensing deal. He said: 鈥淏ioMarin didn鈥檛 have experience in gene therapy at the outset. But they鈥檝e been great to work with and very collaborative. In ten years, they鈥檝e taken this therapy all the way through clinical development to marketing authorisation. They鈥檝e run the largest clinical trials for a gene therapy for the treatment of haemophilia A in the world. So it鈥檚 a great example of an industry-academic partnership which has delivered real patient benefit.鈥�

BioMarin鈥檚 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.

Making gene therapy available to patients around the world

The relationship with BioMarin will be key if Professor Nathwani is to realise his ultimate ambition for Roctavian, which is听to make it available to everyone in the world who needs it.

He鈥檚 driven by the potentially transformative impact on patients鈥� lives: 鈥淲e have a fantastic relationship with BioMarin and we鈥檙e continuing to work closely with them on the roll out of this new treatment. With their support, we鈥檙e currently exploring an opportunity to evaluate haemophilia gene therapy in patients in Uganda, which is where I was born. So I鈥檓 very excited about that. And if we can get this programme to work we鈥檒l continue spreading it across the world.鈥�

Links

Find out more about:

• how UCL is transforming lives through collaboration and knowledge exchange
• UCL Institute of Immunity &听Transplantation
• UCL Faculty of Medical Sciences
• UCL Translational Research Office

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