By Amy Abernethy, M.D., Ph.D., Principal Deputy Commissioner and Acting Chief Information Officer
As an oncologist, I was eager to come work at the U.S. Food and Drug Administration (FDA), where I knew I could be a part of the positive impact on the lives of so many patients across the U.S. FDA is known as a science-based agency with many important public health roles, including facilitating the development of new medical products, and advancing regulatory science to benefit all patients. In that role, it is essential to partner with the people who are impacted the most by disease — patients and their caregivers.
Through my experience treating patients, it became clear that their worries and concerns were not always well matched to the problems the research community was trying to solve. For example, the clinical trial endpoints being studied to support the approval of investigational new drugs were not always relevant to the everyday difficulties my patients experienced.
This is especially true for the rare disease community, where much less is understood about the diseases that currently affect 30 million patients living with a rare disease, 95% of whom do not have any treatment options. Patients and their caregivers discussed this mismatch, and other challenges for developing rare disease treatment, with the rare disease community, the U.S. Department of Health and Human Services (HHS) and FDA leadership at the recent 2019 National Organization for Rare Disorders (NORD) summit, titled: The Time is Now.
We believe patients, and their caregivers, are the experts when it comes to their own health conditions, and it is imperative for their voice to be integrated into all phases of the medical product development process, from pre-clinical studies to post-market safety surveillance.
Learning by Listening
To build on our many programs and initiatives aimed at promoting development of treatments for rare diseases, FDA created the Rare Disease Patient Listening Sessions in partnership with NORD. These listening sessions, which began as a one-year pilot, facilitated by the Patient Affairs Staff in the Office of the Commissioner, offer patients and caregivers an opportunity to speak directly to FDA staff about what it’s like to live with a specific rare disease. It helps FDA staff understand the patients’ perspective about their disease, needed treatment options, and meaningful outcomes. Participants in the listening sessions provide unique perspectives about the reality of living with a rare disease or caring for someone who does.
For example, in a recent listening session on a particular gene therapy, FDA reviewers learned that some patients and caregivers are less likely to enroll themselves or their child in a clinical trial if their current prophylaxis treatment is working and manageable. Others expressed that they would feel more comfortable enrolling in a clinical trial if there were more consensus about the advantages and risks of the gene therapy.
Another listening session for Fabry disease patients and caregivers revealed that current enzyme replacement therapies (ERT) generally improve kidney function and help relieve fatigue. However, gastrointestinal symptoms, the most common symptoms mentioned by Fabry patients and caregivers at the meeting, often did not significantly improve with ERT. The direct engagement with patients and caregivers provides FDA and others with the ability to recognize the importance of addressing gastrointestinal symptoms in Fabry disease beyond current ERTs, and may help inform future studies of the disease.
Often, these insights can educate FDA review staff about what life outside of the doctor’s office is like for someone with a rare disease. By hearing directly from patients and caregivers, review staff can better contextualize the patient experience when they try to prioritize symptom management and side effects, treatment impacts on daily life, and the tradeoffs between benefits and risks of a treatment, as well as more clinical aspects of that treatment. One important impact of these sessions is how they help FDA to keep patients and their caregivers front-and-center in our work on rare diseases. Those of us who are doctors are sometimes more likely to refer to a patient’s disease or organ than we are to the patient’s name or life outside of the disease. But at the FDA we know it’s imperative to keep the whole patient, not just the disease, in the forefront of our work to evaluate safe and effective therapies for rare diseases.
Where We Are Today
In the past year, FDA has conducted 12 Rare Disease Patient Listening Sessions with patients, caregivers, and advocates. Some diseases and conditions examined include, in addition to those noted above, Sanfilippo Syndrome and Neurofibromatosis, with more listening sessions scheduled through 2019 and 2020. One output that marks the end of the pilot is a Staff Manual Guide that will formally establish the program and ensure an efficient process for conducting these sessions.
Rare Disease Patient Listening Sessions are also learning opportunities for patients and their caregivers. These sessions enable patients and advocates to better understand FDA’s regulatory role and why the patient experience is important to FDA’s day-to-day work across the biomedical research continuum, from animal and cell studies through the post-marketing phase. Prior to participating in a listening session, participants receive education about FDA, and medical product development generally, that allows them to participate more effectively by focusing their input on information that would be most useful to the FDA. According to participant feedback, patients felt they had sufficient time to provide their viewpoints, and, perhaps most importantly, that they felt that they were “heard.” They commented on the advantages of being able to personally tell their stories in a forum where they had FDA’s complete attention and offered to come back and share more of their stories in person.
To make sure that all stakeholders have access to this important information, industry sponsors, patients, and research organizations can review the summaries posted on the Patient Listening Sessions page on FDA.gov. FDA leadership and I are committed to incorporating the patient voice into decisions about new and developing therapies. I recently reflected on my experiences in a video interview (above) highlighting why it is so important for FDA to continue to incorporate patient experience and advance the science of patient input. Going forward, FDA will continue refining the program and learning from patients and caregivers about their priorities related to medical product development. The Rare Disease Patient Listening sessions are one more way FDA is engaging patients in all of the steps of the discovery and development process for medical products.