Having conducted 24 disease-specific PFDD meetings under the now-completed PDUFA V initiative, FDA is grateful to the patients, caregivers and patient representatives who have so thoughtfully, generously, and often courageously shared their personal stories of living with their conditions. The patient input generated through these meetings has helped strengthen FDA’s understanding of the burden of disease on these patients and their families, and the limitations as well as the benefits of treatments currently used to manage the condition and its symptoms. Following each meeting, FDA posts a full meeting transcript and webcast recording on its public website [3]. FDA also produces a Voice of the Patient summary report that captures participants’ perspectives in their own words, using the meeting transcript, webcast recording, webcast comments and docket comments as sources of information [5]. These documents constitute a valuable resource that provides important patient context for FDA staff when subsequently advising sponsors on their drug development programs and when assessing products under review for marketing approval.
The input obtained from the PFDD meetings can also be of value to the drug development process more broadly, for example, helping to identify areas of unmet need in treatment of the patient population and development and qualification of new outcome measures in clinical trials. PFDD meetings have also informed the development of draft regulatory guidance to industry on drug development in a given disease area, the planning of follow-up technical workshops, and identification of patient representatives to serve on FDA advisory committees.
The lessons learned from PFDD meetings range from experiences common across rare diseases to more disease specific experiences that matter most to patients. Despite the broad range of patient experiences across disease areas, FDA has identified several key learnings from PFDD meetings, including the following examples:
Patients are experts in what it is like to live with their disease or condition and use of available treatments
In the meetings, patients have clearly identified their most significant symptoms due to their condition (e.g., pain, fatigue, shortness of breath) and described how those symptoms have substantial impact on their daily life, including physical, social, and/or cognitive impact. Patients have also articulated their perspectives on benefits they experience from an existing treatment, discussed downsides of the treatments, and what they would look for in an ideal treatment based on their experiences from existing ones (e.g., fewer or no side effects, less frequent administration).
Patients want their experience described with the words that they use to best describe how it feels
At the chronic fatigue syndrome and myalgic enceophalomyelitis (CFS/ME) PFDD meeting, several participants described their experience with the clinical characterization of acute, debilitating post-exertional malaise. Participants stated that the term “malaise” was inaccurate and they believed that it should be more aptly termed as “crash” or “collapse.” By narrating their experiences in their own words, patients are giving drug developers, FDA staff and others more salient descriptions that reflect their experience with their condition [6].
Patients can best identify and articulate what is most important to them regarding treatment benefit
During the psoriasis PFDD meeting, participants identified reduced scaling, flaking and itching as benefits they would consider to be the most meaningful when considering a new treatment for psoriasis. Participants also stressed the need to enhance the treatment armamentarium, given current challenges with variability in effectiveness, access to available treatments, and uncertainty regarding long-term effects of available treatments. Several participants commented on the need to advance treatments that are not immunosuppressive as well [7].
Patients’ “chief complaints” may not be factored explicitly into drug development plans
For example, repetitive movements, commonly known as “stimming,” are highlighted as a significant symptom of autism and used as an endpoint for developing treatments for autism. However, participants at the autism PFDD meeting stated that stimming is not their most significant symptom. A few participants shared that stimming is actually a helpful coping mechanism for them. Participants indicated that communication difficulties, such as delayed speech, repeating phrases, absence of facial expressions or inability to understand nonverbal communication or gestures, is a more significant symptom of autism and should be incorporated into future drug development plans for autism [8].
Patients want to be as active as possible in the work to develop and evaluate new treatments
For example, in preparation for the narcolepsy PFDD meeting, various advocacy organizations coordinated their initiatives to create a new coalition specifically to prepare patients and caregivers. Similarly, for other PFDD meetings, patient organizations have helped with outreach efforts, organized transportation and held pre-meeting get-togethers or webinars to prepare participants on how to effectively engage with FDA. Most importantly, for each PFDD meeting, patients and caregivers travel at their own cost and willingly share their personal experiences. The strength and determination they have continuously demonstrated is inspiring. Patients at PFDD meetings have also expressed their strong interest in participating in clinical trials, and often highlight that their interest stems not only from their desire to see new and better treatments for themselves, but also for future generations.