Severe Hemophilia A Patients May Soon See New Gene Therapy Treatment Option

By Caitlin Seida from In The Cloud Copy

People living with the severe hemophilia A may soon see a new treatment option available thanks to the work of BioMarin Pharmaceuticals. The therapy, an experimental form of gene therapy, is still undergoing phase 3 trials for safety and efficacy. BioMarin has preemptively applied for a marketing authorization from the European Medicines Agency (EMA) and is planning to submit a biologics license application to the United States Food and Drug Administration (FDA).

What is Valoctocogene Roxaparvovec?

The investigative gene therapy piloted by BioMarin is called valoctogene roxaparvovec. Delivered to patients by infusion, the therapy utilizes the same pathways as adenoviruses – termed adeno-associated virus (AAV) vectors – to give patients living with hemophilia A a functional copy of clotting factor VIII. This is an essential blood clotting protein necessary to reduce or cease bleeding episodes. People with severe hemophilia A show a severe deficiency or complete lack of factor VIII.

Priority Status

The gene therapy being piloted by BioMarin was granted priority status by the EMA in 2017. It was also granted Breakthrough Therapy designation by the FDA and Orphan Drug status by both organizations. Because of this and the promising data shown in previous phases of research, the European Medicines Agency gave BioMarin and valoctocogene roxaparvovec Accelerated Assessment status. This means the usual marketing authorization review could be shortened from 210 days to a mere 150 days.

Promising Results

The initial three-year data from the company’s phase 1 and 2 trials of the therapy reported a 96% reduction in annual bleed rates and factor VIII infusions in adults with severe hemophilia A who received a single dose of valoctocogene roxaparvovec.

In the subsequent years after receiving an infusion, those participating in the study exhibited a stable level of clotting factor VIII. Those who participated in the study were noted to have tolerated the therapy; none developed inhibitors to factor VIII, and none withdrew due to adverse effects or events as a result of the gene therapy.

Current Work

BioMarin is currently in the middle of Phase 3 trials, which is still recruiting adults with severe hemophilia A to try the therapy. Research is being conducted at 73 individual sites worldwide and the company seeks to find about 130 willing adults to try valoctocogene roxaparvovec.

BioMarin is conducting two Phase 3 tests, one with a higher dosage of vector genomes and one with a lower dosage. The marketing application submitted to the EMA was based on the three-year results of the Phase 1 and 2 trials, as well as interim reports from the current research of Phase 3.

Implications and Looking Forward

Pending marketing approval for the therapy, which BioMarin expects to be reviewed starting in January 2020, patients in the European Union, as well as Norway, Iceland and Liechtenstein will be able to access the therapy through their healthcare providers. The marketing authorization allows BioMarin to make the treatment available to health care providers and patients.

Although BioMarin has not yet submitted their biologics license with the FDA, that license similarly grants BioMarin the ability to make the treatment available to patients in the United States and its territories.

Those living with severe hemophilia A may, as a result of the introduction of valcotocogene roxaparvovec, see an increased quality of life due to a reduction in bleeds and a marked decrease in severity of bleeds.

Those interested in taking part in Phase 3 clinical trials of the therapy can find more information on the current status of the trial or information on how to apply at the European Clinical Trials Registrar website and the FDA’s Clinical Trials website.

Check out the original story here.


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