DURHAM – Around the world, 300 million people are living with a rare disease and the myriad physical, emotional, social, and financial challenges it can cause. Among them are 23-30 million Americans, including many people right here in our own community.
In my role as chief research and development officer at BioCryst, a Durham-based biotech developing novel, oral medicines for rare diseases, I oversee an incredible team of colleagues working to uncover much-needed treatment advances. We share a collective commitment to delivering extraordinary medicines that help patients live ordinary lives.
To those unfamiliar with the challenges of living with a rare disease, an “ordinary life” may sound like a low bar to set. But for many impacted by a rare disease, a sense of ordinary is a goal once thought unattainable.
Among the barriers facing the rare disease community, the extreme need for new therapies is among the top of that list, which is compounded by the rarity of each disease and the sheer number of them.
Thankfully, in recent years, truly remarkable strides have been made in treating many rare diseases, from the introduction of first-ever therapies for some conditions to new options for others that make disease management a little less burdensome. Of course, none of this would have been possible without insights from clinical trials. But what’s not talked about enough when discussing the latest progress and research findings is that these advances would not have been possible without the willingness of patients to participate in clinical trials.
The Unsung Heroes of Clinical Trials
For the past 20+ years, I’ve had the privilege of working in research in the biopharmaceutical space, much of it studying life-altering rare diseases such as sickle cell disease, hereditary angioedema, paroxysmal nocturnal hemoglobinuria, and fibrodysplasia ossificans progressiva. Along the way, I’ve been repeatedly impressed and moved by the generosity of patients who participate in a trial. These are the individuals already facing the challenges of a rare disease who give their time and energy to contribute to the understanding of their disease.
In rare diseases, the number of patients living with a certain condition may be incredibly small. Ensuring enough patients participate in trials to generate critical data and insights is a particular challenge. And yet, as vital as their role is, I’ve observed that patients participating in trials rarely have a sense of just how valuable and important their contributions are. But every single person who has participated in a clinical trial, regardless of its outcome, has contributed to a greater scientific understanding, whether it is of a potential new treatment, the disease itself, or how to best study it.
And while the focus is often placed on the “results” of a trial, other insights gleaned about how to conduct trials and approach studying the disease can be just as helpful. Every clinical trial contributes in some way. Even when the results are unexpected, there is much to learn about the disease, the endpoints selected, the methods of trial design and analysis, and the therapies used in the trial. Sometimes a “negative” outcome advances the knowledge of a rare disease more than a “positive” one. Improvements in patient care are often built on prior knowledge derived from earlier “negative” and “positive” trials. Patient volunteers in clinical trials contribute important information simply by participating.
An Urgent Endeavor
Of course, trial participation requires personal sacrifice on the part of patients – such as extra blood draws or additional visits to the clinic – and it is our job, in the research field and as an industry, to make the process as smooth as possible for patients and their loved ones. We must offer resources to foster greater understanding of trial participation and more opportunities for meaningful discussion with the patient community to understand and support patient needs during the research process. And we must let clinical trial participants know just how much they are appreciated.
While we’ve made progress in bringing better treatment options to patients with rare diseases, there’s still a tremendous need and much more to be done and discover. With approximately 7,000 identified rare diseases, each one as unique as the people impacts, this is an urgent endeavor. The resolve to continue our work to bring therapies to patients is something I embrace every day as we strive to keep the needs of our trial participants in clear focus in our clinical research efforts.
But through the dedication of those advancing clinical research – and through the generosity of patients willing to participate – I’m confident we will continue making forward strides to bring even more ordinary days.
To those around the world and here at home living with a rare disease who contribute by participating in clinical trials, who by doing so give of themselves in the service of science to help make this forward progress possible, I extend a heartfelt “thank you.” You are the unsung heroes.