First gene therapy for adults with severe hemophilia approved by EC


The European Commission (EC) has granted conditional marketing authorization for a gene therapy to treat severe hemophilia A in adults it was announced yesterday (August 25).

BioMarin Pharmaceutical Inc.’s Roctavian (valoctocogene roxaparvovec) treats the congenital factor 8 deficiency in adults patients without a history of factor VIII inhibitors without detectable antibodies to adeno-associated virus serotype 5 (AAV5).

EMA recommendation

The EC also endorsed European Medicines Agency’s (EMA) recommendation for Roctavian to maintain orphan drug designation, thereby granting a 10-year period of market exclusivity. 

The EMA recommendation noted that, even in light of existing treatments, Roctavian may potentially offer a significant benefit to those affected with severe hemophilia A. 

The company explains this is a one-time infusion and is the first approved gene therapy for the condition. It works by delivering a functional gene that is designed to enable the body to produce factor VIII on its own without the need for continued hemophilia prophylaxis.

It says this relieves patients of their treatment burden relative to currently available therapies.

People with hemophilia A have a mutation in the gene responsible for producing factor VIII, a protein necessary for blood clotting.

Severe hemophilia

BioMarin says it is estimated that more than 20,000 adults are affected by severe hemophilia A across more than 70 countries in Europe, the Middle East, and Africa.

It says of the 8,000 adults with severe hemophilia A in the 24 countries within BioMarin’s footprint covered by today’s EMA approval, there are an estimated 3,200 patients who will be indicated for Roctavian.

BioMarin anticipates additional access to Roctovian for patients outside of the EU through named patient sales based on the European Medicines Agency (EMA) approval in countries in the Middle East, Africa and Latin America and expects additional market registrations to be facilitated by the EMA license.

Professor Johannes Oldenburg, a director at the University Clinic in Bonn, Germany, said: “This approval in the EU represents a medical breakthrough in the treatment of patients with severe hemophilia A that expands the conversation between a patient and physician on treatment choices to now include a one-time infusion that protects from bleeds for several years

“It is exciting to imagine the possibilities of this approved gene therapy, which has demonstrated a substantial and sustained reduction in bleeding for patients, who potentially could be freed from the burden of regular infusions.”

Roctavian gene therapy

The EC based its decision on a significant body of data from the Roctavian clinical development program, the most extensively studied gene therapy for hemophilia A, including two-year outcomes from the global GENEr8-1 phase 3 study. 

Jean-Jacques Bienaimé, CEO at BioMarin, said: “Roctavian approval in Europe is a historic milestone in medicine and is built upon almost four decades of scientific discovery, innovation, and perseverance.

“We thank the European Commission for recognizing Roctavian’s value as the first gene therapy for hemophilia A, a feat that we believe will transform how healthcare professionals and the patient community think about caring for bleeding disorders.

“We are grateful to the patients, investigators and community, who dedicated their time and effort to this achievement and whose aspirations provided the driving force behind making this one-time therapy a reality.”

The GENEr8-1 phase 3 study demonstrated stable and durable bleed control, including a reduction in the mean annualized bleeding rate (ABR) and the mean annualized factor VIII infusion rate.

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