Recently, when I was asked to describe the current state of bleeding disorders therapy in just one word, the word “revolutionary” came to mind.
I chose that word because we are in the midst of a sudden, radical change in how hemophilia is treated as compared to the past.
In the last few years alone, we’ve seen steady advances that have reduced the burden of traditional factor replacement. This has been achieved primarily through extended half-life factors.
But the more dramatic changes have been the recently approved non-factor replacement therapies that offer a completely new way of doing prophylaxis. They feature a unique mechanism of action and for the most part, involve subcutaneous administration. For several of these new therapies, dosing could be as infrequent as once a month, which is revolutionary for individuals who have needed IV infusions every other day since they were infants.
More recently, in just the last two months of 2017, you probably read about two separate clinical trials that found that just one infusion of each of the novel gene therapies being studied eliminated or nearly eliminated the need for preventive infusions of clotting factor. Moreover, these effects lasted for a year and a year and a half, respectively.
The potential for gene therapy in treating bleeding disorders didn’t spring up overnight, but rather is the result of the hard work of many investigators around the world for the past 25 years. And it was 25 years ago that I began my career in research—when the recombinant era in therapy had just begun. Looking back, I remember that it didn’t take long for scientists to conclude that recombinant DNA technology held the promise of unlocking novel therapies. And they were right.
Current gene therapy technologies are still grounded in replacement therapy. All that we’ve done is shift recombinant expression from the pharmaceutical manufacturing plant, where cells are grown in big vats, to the patient’s own “production facility” —their own liver—through gene transfer. This is a very important step toward a cure.
This is an exciting time for bleeding disorders research, but there is still so much to be done. As healthcare providers, we’re going to have to adjust and learn as these revolutionary therapies become available. The new gene therapies are not without some risk, so we must continue to maintain proper oversite and management.
For 70 years, NHF has been a catalyst for much of this innovation. If you were to look at which researchers and clinicians have impacted this field of study, you would find that many of them have received support through NHF’s Clinical Fellowship program, or their research was helped by the Judith Graham Poole and Career Development Awards. All of these people have contributed, whether on the clinical or basic science side, to take us to the place we are today.
But it’s not only the training of clinicians and the grant opportunities that are part of NHF’s 70-year legacy. It is the message to the community that innovation is achievable. It is giving people a reason to dream about what may have once seemed impossible. Children today born with hemophilia are being born into an era where, due to these groundbreaking therapies, they should in all respects be able to live their lives to their fullest potential.
Steven Pipe, MD
Chair
NHF Medical and Scientific Advisory Council (MASAC)
