The term “hemophilia” didn’t exist until the late 1920s, but this rare blood disorder dates much further back, including its place in history as a disease that afflicted royal families in Europe. Although a lot has changed about our understanding of the disorder since then, one thing has remained the same for more than a century. The goal in treating this chronic condition has been to answer the question: how can we reduce or prevent the spontaneous and excessive bleeding that people with hemophilia experience?
While that question still drives research today, exciting new advances in the last decade have helped us to dive deeper into the everyday impacts that hemophilia has on people’s lives.
Going Below the Surface With Hemophilia A
For people with hemophilia A, the most common type of the disorder, daily life can be unpredictable based on a number of factors. How severe is their disorder? How often do they have bleeds? How do their bleeds affect their bone and joint health, where most bleeds occur? Left untreated, even one severe bleed can cause long-term damage to the body.1
Even more questions arise around the role of treatment in daily life. How often will treatments be needed? Will they be used on demand after a bleed, or routinely to prevent bleeding? How will they learn to administer treatment, which can require infusions into a vein?
One of the biggest challenges hemophilia A brings is the potential for a person’s immune system to attack the treatment that is intended to help them. People with hemophilia A make a faulty version, or too little, of factor VIII, a protein that helps the blood clot properly. Today, the disorder is often treated with factor VIII replacements. But in about 30% of people with severe hemophilia A, the immune system mistakenly sees the medicine as an unwelcome substance and develops inhibitors, or antibodies that can stop factor VIII treatment from working properly.2
Changing the Approach
Answering these questions required a completely new approach to treating hemophilia A, which led us down an exciting path of collaboration and scientific discovery. The new question became: how can we reduce bleeds and deal with factor VIII inhibitors, while making treatments more convenient for patients?
Our researchers were moved and inspired by the experiences of people living with hemophilia A. They developed a medicine that allowed the clotting process to continue without needing replacement factor VIII. Because this novel approach does not depend on factor VIII, it’s designed to work even in the presence of factor VIII inhibitors.
Exploring New Questions
Today, the hemophilia A community ― researchers, healthcare professionals, patients and advocates alike ― find ourselves in newly charted waters. Treatment advances are changing the way people live with hemophilia A. People now have treatment options that didn’t exist a decade ago, and newly diagnosed children and their families may have a completely different treatment history than just one generation before them. As a result, the conversations between healthcare providers and their patients are shifting.
As scientists and researchers, we’ve shifted our focus, too, seeking to help the community answer new and evolving questions. We continue to follow the science, while also realizing it’s critical to look at the whole person. That means diving into the long-term impacts of hemophilia A on someone’s day-to-day life, filling gaps that have not traditionally been studied as intensely. We can help someone to stop a bleed, but we also want to understand how we can help them live long, healthy and happy lives with hemophilia.
To address this, scientists are gathering and analyzing real-world data ― beyond what is captured in clinical trials ― to assess the overall well-being of people with hemophilia A and inform future clinical practice. They are learning from long-term data, which provides important insights for bone and joint health over time. Long-term data can also give pediatric patients a window into their future, providing valuable information that can help physicians better serve younger and even previously untreated people with hemophilia A. Scientists are also testing therapies in people who have historically been underrepresented in clinical research, including people who develop hemophilia A later in life because of changes in the immune system, the small percentage of people with hemophilia A who are women and people with mild and moderate hemophilia A.
New studies are reexamining what treatment regimens are most effective while causing the least amount of burden to people with hemophilia A. Research is also looking into the impact of treatment on common life occurrences that bring greater challenges for people with hemophilia A, like undergoing major or minor surgery. To better guide this research, scientists are collaborating with patients and caregivers to develop questionnaires that can more holistically capture how hemophilia A affects their quality of life. These efforts are critical to ensuring the inclusion of patient experiences, especially as treatment approaches evolve.
With every new study, scientists and clinicians continue to make important discoveries that provide a more comprehensive picture of what it’s like to live, work, play and thrive with hemophilia A. As we work together with the community to illuminate new depths of understanding, we do so with the ultimate goal in mind: to continue to improve the lives of people living with hemophilia A.