BioMarin to Present Seven-Year Data on Hemophilia A Gene Therapy Roctavian

Rare Daily Staff

BioMarin Pharmaceutical said that new, seven-year follow-up phase 2 study results of its gene therapy Roctavian showed durable hemostatic benefit for adults with severe hemophilia A.

The results will be presented at the 2024 European Association for Hemophilia and Allied Disorders (EAHAD) Congress, February 6-9, 2024.

Results from a phase 2, open-label study of Roctavian showed that median factor VIII (FVIII) activity at year seven remained in the mild hemophilia range (10.3 IU/dL per chromogenic assay) and mean annualized bleeding rate (ABR) for treated bleeds over the full follow-up period decreased by 96 percent from baseline for adults with severe hemophilia A in the 6×1013 vg/kg dose cohort. The majority of participants maintained hemostasis, with only two of the seven participants in the study returning to regular prophylaxis, and no new safety signals emerged.

“People living with severe hemophilia 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,” said Hank Fuchs, president of Worldwide Research and Development at BioMarin. “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 hemophilia A.”

Additional studies will be shared during oral presentations, including preliminary results from GENEr8-INH, a phase 1/2 study evaluating the safety and efficacy of Roctavian in participants with active and prior FVIII inhibitors, as well as one-year results from GENEr8-3, a phase 3b study evaluating the use of prophylactic corticosteroids with Roctavian treatment.

Hemophilia A, also called factor VIII (FVIII) deficiency or classic hemophilia, is an X-linked genetic disorder caused by missing or defective FVIII, a clotting protein. Although it is passed down from parents to children, about one-third of cases are caused by a spontaneous mutation, a new mutation that was not inherited. Approximately 1 in 10,000 people have hemophilia A.

Roctavian is an adeno-associated virus vector-based gene therapy used for the treatment of adults with severe hemophilia A who do not have antibodies to adeno-associated virus serotype 5 (AAV5), which is determined by a blood test. The one-time infusion works by delivering a functional gene that is designed to enable the body to produce FVIII on its own, reducing the need for ongoing prophylaxis.

The European Commission granted conditional marketing authorization to Roctavian on August 24, 2022. The U.S. Food and Drug Administration approved Roctavian on June 29, 2023.