Gene therapy was once hailed as the transformative breakthrough for hemophilia—the long-awaited cure that would change everything. But reality has been more nuanced, and many people in the community have been hesitant to embrace it. Some pharmaceutical companies have canceled their gene therapy programs, removing the treatment from the market. What this means for the future of innovation was what Friday's panel at NBDF's Bleeding Disorders Conference set out to explore.
"Candid Conversations – Will Innovation Continue in Hemophilia Treatments?" brought together voices from across the bleeding disorders community for a thoughtful discussion about progress made and the path forward. Patrick James Lynch, a lived experience expert and podcaster, moderated the panel featuring Chris Bombardier, mountaineer, advocate, and executive director of Save One Life; Dr. Mark Reding, Director of the Center for Bleeding and Clotting Disorders at University of Minnesota Medical Center; Dr. Len Valentino, Entrepreneur in Residence at Pathway to Cures, and Teri Willey, Managing Director & Officer at Pathway to Cures.
The Hemophilia-Free Mind
The session built on an idea introduced by Dr. Glenn Pierce at the conference's Opening Session: the concept of "the hemophilia-free mind"—a state where individuals don't have to think about their condition every single day.
Chris Bombardier spoke about the freedom that comes from not having hemophilia dominate one's daily thoughts. Dr. Valentino reinforced that gene therapy has real potential to deliver this kind of liberation. For some people, gene therapy has been genuinely transformative, creating exactly that hemophilia-free mindset. So why has uptake been slower than expected?
One reason is the “one-and-done” concern. Gene therapy, as it currently stands, is essentially a single opportunity. If it doesn't boost factor levels enough, or maintain them over time, there is not a second chance. Dr. Reding explained that this limitation stems from how current gene therapy works—it uses a viral vector (AAV) to deliver the treatment, and the immune system creates such a strong response that a second attempt won't work.
There are more options for treatment than ever before – and they’re much less burdensome on the patient. When gene therapy was first discussed, the main option was traditional factor replacement therapy—those multiple weekly infusions of clotting factor. Now the options have expanded considerably. There are plasma-derived products, recombinant formulations, extended half-life products that reduce infusion frequency, and non-factor therapies like emicizumab for hemophilia A. Emicizumab is administered subcutaneously and is a bispecific antibody, sometimes called a “mimetic”, because it mimics the way factor XIII works in the body.
Cost issues are an ongoing concern. Gene therapy might prove cost-effective long-term if it works well, but the upfront expense can be prohibitive, and policies around how insurance companies reimburse for gene therapy are fragmented and inconsistent.
The needs of the community were not at the forefront. Companies have focused on designing studies that achieve FDA approval, but there's often a disconnect between what regulators need to see and what actually matters to patients. Without genuine community interest, even effective products can disappear from the market.
Where Do We Go from Here?
There is still room for innovation and breakthroughs, the panel stressed. Community voices are gaining prominence in product development from the earliest stages. This includes developing clinical endpoints and metrics that genuinely matter to the people who will be using these treatments.
The one-and-done issue is also being addressed. New approached to gene therapy delivery include methods that can circumvent immune responses to viral vectors, non-viral delivery systems for gene replacement, and gene editing techniques. Teri Willey and Dr. Valentino shared that Pathway to Cures—NBDF's venture philanthropy fund—has reviewed over 200 innovative approaches to unmet community needs. The range includes new DNA delivery platforms, RNA-based coagulation therapies, novel targets for antisense oligonucleotide (ASO) treatments, B-cell therapeutic approaches, and even non-invasive devices that stimulate the spleen to prime platelets and reduce bleeding, such as OhmBody.
Artificial intelligence is beginning to influence diagnostics and prognosis, with growing interest in using AI to develop personalized treatment plans that find the best approach for each individual.
Chris Bombardier reminded the audience that global access remains the most significant challenge. While treatments exist that could help millions of people with bleeding disorders worldwide, delivering those therapies to the people who require them most remains difficult.
Looking Forward
Despite the challenges encountered with gene therapy's initial rollout, the speakers on the panel were optimistic about the future. Treatment options are more diverse than ever before, and perhaps more importantly, the community has demonstrated its ability to come together to tackle challenges and advocate for meaningful progress. The hemophilia-free mind no longer feels impossible.
