BioMarin shares long-term results for haemophilia A gene therapy Roctavian

BioMarin Pharmaceutical has shared new seven-year follow-up results for its adeno-associated virus vector-based gene therapy, Roctavian (valoctocogene roxaparvovec-rvox), in adults with severe haemophilia A.

Affecting approximately one in 10,000 people, haemophilia A is a genetic disorder caused by a lack of sufficient functioning factor VIII clotting protein. This can lead to spontaneous bleeds, as well as bleeding following injuries or surgery.

Patients with the most severe form of the disease are usually treated with intravenous factor VIII infusions two to three times per week or a bispecific monoclonal antibody one to four times per month.

BioMarin’s Roctavian, which is administered as a one-time infusion, delivers a functional gene that is designed to enable the body to produce factor VIII on its own without the need for continued haemophilia prophylaxis, relieving patients of their treatment burden.

The results from the mid-stage, open-label study of the therapy, presented at this year’s European Association for Haemophilia and Allied Disorders Congress, showed that median factor VIII activity at year seven remained in the mild haemophilia range.

The mean annualised bleeding rate for treated bleeds over the full follow-up period decreased by 96% from baseline for adults with severe haemophilia A in the 6x1013vg/kg dose cohort, the company said, adding that the majority of patients maintained haemostasis, with only two of seven returning to regular prophylaxis.

Hank Fuchs, president of worldwide research and development at BioMarin, said: "People living with severe haemophilia A face a lifelong treatment burden, including frequent injections or infusions and a high risk of health complications like uncontrolled bleeding and irreversible joint damage, which may persist despite good adherence to prophylactic therapy.

"We are pleased to present data showing the impact of one-time treatment with Roctavian over seven years following the infusion, underscoring the potential of gene therapy to make a meaningful and long-lasting impact for people living with severe haemophilia A.”

Roctavian has already been granted conditional marketing authorisation by the European Commission and has been approved by the US Food and Drug Administration.

The company announced last August that a patient in Germany with severe haemophilia A had been treated with Roctavian, which signified the first time that the therapy had been given commercially in Europe.