BioMarin provides update to ongoing Phase 3 hemophilia A gene therapy study

An update for the hemophilia community from BioMarin, regarding the ongoing Phase 3 BioMarin hemophilia A gene therapy study, and a serious adverse event deemed, by the Independent Data Safety Monitoring Committee, unrelated to the investigational gene therapy from the phase 1/2 study.

View the original Clinical Development Program Update

BioMarin’s investigational gene therapy for hemophilia A has not been approved for use; clinical trials are ongoing.

Clinical Trial Overview

BioMarin’s valoctocogene roxaparvovec is currently being studied in adults with severe hemophilia A.
On February 4th, 2022, during the European Association for Haemophilia and Allied Disorders (EAHAD) Congress, there was a presentation of the ongoing Phase 3 pivotal study of valoctocogene roxaparvovec, including the most recent data of 2 years or more of follow up for individuals enrolled in the GENEr8-1 study.

The Phase 3 study (named GENEr8-1) is currently being conducted in 13 countries. This study has been fully enrolled since November 2019 with 134 participants who received investigational gene therapy.
The first trial of valoctocogene roxaparvovec, a Phase 1/2 study with 15 participants, was initiated in 2015 and completed enrollment in 2017. These participants are now in long-term follow-up; the safety of study participants is of paramount importance to BioMarin. In November 2021, BioMarin was notified of a serious adverse event of cancer by one of this study’s clinical trial investigators. A serious adverse event (SAE) is the term used to describe the occurrence of a serious health issue in a study participant, regardless of whether it was caused by the treatment under investigation.

The participant noticed a lump in his neck that was later diagnosed as salivary gland cancer. He then reported it to the study team. The cancer was completely removed during surgery, and the individual is being closely followed by his personal health care team. Separately, he continues his monitoring associated with the clinical trial.

BioMarin applauds this person’s attention to his health and reporting to his physician while participating in clinical research.

As with any serious adverse event, a committee of experts was brought together to help determine the cause of the cancer and whether it may be related to the therapy being studied in the trial. The committee was composed of the BioMarin study team, the study investigator, an independent committee of experts that routinely monitors the study (Data Monitoring Committee), as well as other medical and scientific experts. In this case, the event was deemed by the study team as well as external experts to be unrelated to the investigational gene therapy given the available information. The relevant health regulatory authorities were notified. In addition, further analyses are currently being carried out on the cancer tissue which was removed.

All clinical studies with valoctocogene roxaparvovec remain active, including study enrolment.
We acknowledge and thank the members of this community for their continued commitment and for the huge contribution that they have made to research in hemophilia.

For additional information:

  • For information on BioMarin clinical studies, visit and type in the study code “BMN 270
  • For inquiries or to provide feedback from advocacy organizations, please contact
  • Contact BioMarin Medical Information at