On 19 July, BioMarin presented positive one-year results at the International Society on Thrombosis and Haemostasis (ISTH) 2021 Virtual Congress regarding its GENEr8-1 Phase III pivotal trial, in which adults with severe hemophilia A are treated with the gene therapy Roctavian (valoctocogene roxaparvovec).

The European Medicines Agency (EMA) has recently validated BioMarin’s resubmission of a marketing authorization application (MAA) for Roctavian as well as the request for accelerated assessment. GlobalData previously estimated a launch date of September 2022 for Roctavian in the EU (Table 1), but the release of this positive data combined with BioMarin’s swift moves to market approval could see Roctavian become the first gene therapy available to hemophiliacs much earlier.

Hemophilia is a rare, X-linked hereditary disorder in which deficiencies in clotting factors—factor VIII (hemophilia A) or IX (hemophilia B)—result in excess bleeding in joints, muscles, and soft tissues after internal or external trauma. Patients with severe hemophilia A (<1% of normal factor VIII levels) exhibit spontaneous bleeding episodes. Of the 134 patients in the GENEr8-1 study, over 90% experienced an annualized bleeding rate (ABR) of zero or lower than baseline after four weeks of treatment with Roctavian. Furthermore, patients with severe hemophilia A are required to take prophylactic (preventative) factor infusions up to three times a week. BioMarin previously reported that treatment with Roctavian reduced the mean annualized factor VIII infusion rate from 135.9 to 2.0 infusions per year, thus decreasing the need for infusions by 99%. This will significantly diminish the treatment burden on hemophiliacs, but patient access remains an issue.

According to GlobalData’s patient-based forecasts, Roctavian is expected to cost $3M per dose in the US and EU. Gene therapies are also designed to be a one-time, curative treatment, yet key opinion leaders (KOLs) believe that some patients may have to take multiple doses for the therapy to be effective. KOLs remark that there is no way to predict who will respond well to gene therapies, and that increased factor levels could decline over time. Therefore, the first gene therapy to market will be the one with the most comprehensive, long-term data.

The FDA had rejected approval of Roctavian last year and requested two-year follow-up data from a larger Phase III study. BioMarin has taken these steps and aims to resubmit a biologics license application (BLA) in Q2 2022. With EU regulatory bodies expected to make an approval decision in the first half of 2022, Roctavian is set to be the first gene therapy approved for hemophilia A. BioMarin will benefit from the advantages of developing the first marketed gene therapy for this disorder, projected to have a market share of 30% in 2027. According to GlobalData’s consensus analyst forecasts, Roctavian’s global sales are expected to reach $1B by 2027, while Spark’s second-to-market dirloctocogene samoparvovec is only set to reach $324M by 2027 (Table 1). If approved, patients with severe hemophilia A will have a chance at a normal life with no, or at least very few, ongoing medical interventions, albeit having to pay a high list price.

Cell & Gene Therapy Coverage on Clinical Trials Arena supported by Cytiva.

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