FDA approves first ever gene therapy for severe Haemophilia A

The Food and Drug Administration (FDA) has approved the first ever gene therapy for patients with severe haemophilia A.

The new treatment, roctavian, is the first to address the genetic cause of the condition, and offers patients an alternative to demanding, regular injections, that most patients will need for their whole lives.

What is haemophilia A?

Haemophilia A is a rare, genetic bleeding disorder. People with haemophilia A have a specific protein (Factor VIII) missing from the blood, which means that injured blood vessels cannot heal in the usual way. This means bleeding is harder to control and is life-threatening in severe case.

The severity of symptoms ranges from mild to severe depending on the amount of Factor VIII present in the blood and its activity. However, even mild cases 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.

Roctavian proven to reduce rates of bleeding

Until now, the only treatment for haemophilia A was regular injections to replace the missing Factor VIII. This treatment has to be administered throughout the patient’s life, as many as two to three times per week.

This new therapy is ground-breaking because it is a one-time, long-term treatment. Roctavian increases patient’s levels of Factor VIII by delivering an engineered adeno-associated virus into the 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.

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.

The first long-term treatment for severe haemophilia A “will change lives”

The technology was developed by Professor Amit Nathwani and his team at UCL and St. Jude Children’s Research Hospital, USA.

The team behind the treatment say it will be ‘life changing’ for patients, and that it is a “prime example of how “industry-academic engagement is directly benefitting society”.

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.”