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Meaningful engagement between biopharmaceutical companies and patient communities has increasingly become an important part of the therapeutic-development process, as such engagement improves the understanding of the multifaceted challenges and unmet needs that communities experience and provides an opportunity to inform the approach to the development of new therapies and services. Presented here are learnings from a community-advisor program designed to engage families of patients with Duchenne muscular dystrophy (DMD) in a manner that enabled caregivers to make valuable contributions to the therapeutic-development process and to the DMD community. Parents of children with DMD, representing the broader DMD community, were identified in partnership with patient-advocacy organizations and invited to participate in a community-advisor meeting with members of Wave Life Sciences. The community-advisor meeting was designed to provide participants with an opportunity to share their personal experiences with DMD, to help to inform the therapeutic-development process, and to identify potential solutions for addressing unmet needs. Three community-advisor meetings were held with a total of 30 parents, representing 36 children with DMD. Key themes that emerged from the advisors' discussion included the importance of the community's emotional and mental support, the inconsistencies in DMD care, the increased challenges and disparities faced by underserved communities, and the need for more comprehensive, holistic approaches to the treatment and management of DMD. The advisors viewed the meetings as an opportunity to share their voices with a biopharmaceutical company, coupled with the advantage of meeting other families living with similar challenges. Most of the advisors stated that this was their first advisor meeting. This community-focused approach empowered participants to voice their needs and perspectives, to brainstorm potential solutions for addressing those needs, and to initiate and foster connections in ways that had a considerable impact on one another and on therapeutic-development programs at Wave Life Sciences.
Patients and their families living with rare diseases, such as Duchenne muscular dystrophy (DMD), have increasingly become important, influential voices for informing the development of therapeutics. An understanding of the holistic experience of these patients and their families is vital to the development of new therapies, programs, and services that meet their needs. Biopharmaceutical companies, through patient and community engagement, have the obligation to gain a deeper understanding of how diseases impact the overall quality of life of patients and their families. Furthermore, the integration of such engagement as a part of a patient-centric development process has the potential to facilitate the delivery of optimal care and treatment while meeting patients' and families' broader needs.
Patient engagement during the therapeutic-development process has evolved beyond the conventional practice of clinical-trial participation and postapproval education about new medicines, with health care providers often acting as conduits.
Stakeholders (eg, health care providers, biopharmaceutical companies, payers, regulatory bodies) have recognized the value of the perspective of patients and caregivers and of the patient-centric process.
Particularly in rare diseases, characterized by a low prevalence and a lack of widespread physician expertise, patients and caregivers are often forced to become experts on their own conditions, and are thus able to provide a nuanced, deep understanding that other stakeholders cannot.
The shift to a more patient-centered paradigm is supported by the establishment of the Patient-Focused Drug Development initiative by the US Food and Drug Administration (FDA), which aims to integrate the patient's perspective into the early stages of the therapeutic-development process and to inform important decisions related to clinical-trial design and regulatory benefit–risk assessments.
The value of patients' and caregivers' perspective has been further demonstrated by the FDA's invitation to Parent Project Muscular Dystrophy, an advocacy organization focused on DMD, to write the first patient advocacy–initiated draft guidance on the development and review of DMD therapies.
Despite widespread agreement that meaningful collaboration to inform the development of new therapies and treatment guidelines is crucial, there is little consensus on how to most effectively integrate the perspectives of patients and caregivers into the clinical-development process.
DMD is a disorder of progressive muscle weakness that takes a significant toll on physical, psychological, and social well-being, as well as on the overall quality of life of patients and their families.
While community engagement has been focused on assessing patients' and/or caregivers' understanding and perceptions of clinical research and on developing patient-reported outcomes measures, the potential exists for more meaningful integration of patients' insights into the therapeutic-development process at its earliest stages.
Here we describe a community-advisor program designed to facilitate collaborative engagement with the families of patients with DMD in a manner that enables meaningful contributions that can be integrated into the therapeutic-development process.
Community-advisor Meeting Design
A series of 3 community-advisor meetings between the families of patients with DMD and members of various functions of Wave Life Sciences, a biopharmaceutical company located in Cambridge, Massachusetts, was planned. Parents or caregivers, representing the diverse experiences of families affected by DMD in the United States, were identified in partnership with members of the DMD community and patient-advocacy organizations. Participation in the community-advisor meetings was limited to individuals living in the United States who were self-identified parents or other caregivers of a person with DMD, who were willing to share their experiences of and insights on living with DMD, and who had the ability to participate in a full-day meeting (including travel if necessary). A representative of either Wave Life Sciences or a DMD patient-advocacy organization contacted potential participants to gauge their interest in serving as an advisor at one of the community-advisor meetings. All potential participants who had expressed interest were contacted by Wave Life Sciences via e-mail. In advance of the meeting, a Wave Life Sciences representative (J.S.) conducted introductory phone calls or premeeting interviews to confirm eligibility, to gather background information (eg, relationship, age of the person with DMD), to establish expectations about participating in the meeting, and to initiate the trust-building process.
The community-advisor meetings were designed to obtain a visceral understanding of and empathy for the life experiences of those living with DMD, to obtain a better understanding of current treatment implications and future expectations, and to identify communication preferences for data sharing. A combination of semistructured and unstructured qualitative discussion was used. This approach was intended to provide the advisors with an opportunity to share insights and experiences meaningful to them. Advisors shared their experiences of living with DMD using storyboarding, a participatory, experiential method that was used for identifying Moments that Matter—intense experiences or defining moments that caused a visceral emotional response resulting in long-term effects on a patient, caregiver, or family. This type of storytelling approach allowed the advisors to form connections, to reflect on experiences, and to communicate these experiences in a positive, impactful manner.
Advisors were grouped into teams and tasked with co-creating “Living with Duchenne” storyboards, in which imagery, phrases, and symbols were chosen to capture their experiences, feelings, and challenges. Then, as a large group, the advisors and members of Wave Life Sciences worked together to co-create potential opportunities for addressing prioritized Moments that Matter. Through storyboards, advisors were able to creatively share and rephrase poignant moments in a safe, comforting space, to find similarities to and common threads with their fellow advisors while retaining their uniqueness, and to identify unmet needs. Advisors were also asked to share their perspectives on the current standard of care in DMD, their expectations for the future, as well as their preferred sources of information and/or channels for sharing information with the community.
Following the community-advisor meeting, advisors were asked to complete postmeeting surveys for providing feedback on the meeting's design and outcomes. A cross-functional team at Wave Life Sciences separately convened to prioritize community insights and to ideate ways to organically integrate learnings from the community-advisor meetings into the company's work while addressing the needs of the DMD community. Insights and key learnings from the meetings were subsequently shared with the advisors via phone calls and/or e-mail.
Three 1-day community-advisor meetings were held in Cambridge, Massachusetts; Detroit, Michigan; and Dallas, Texas, from August to October 2019. A total of 30 parents (80% mothers) from 13 states, representing 35 boys and 1 girl with DMD, participated (Fig. 1). The children of the parents were aged 4–22 years and had been diagnosed with DMD as early as in utero and as late as age 10 years. Of the 26 advisors who responded to the premeeting survey, 4 (15%) reported having >1 child with DMD. Half of the advisors had a child who had participated in a clinical trial. Most advisors reported that they had interacted with patient-advocacy organizations in the past.
Perspectives and insights that emerged from the meetings were grouped into the themes shown in Fig. 2. Advisors noted that research on DMD had a profound impact on many aspects of life (Fig. 2, The Science). In many families, the narrow eligibility criteria in clinical trials resulted in limited access to trial participation, an experience that was described as acutely disappointing. In others, the existence of multiple trial opportunities resulted in hard sacrifices and heart-rending decisions in determining which trial was best for the family. The tradeoffs, such as exclusion from future trials, were not always clear. For example, advisors spoke of the painful realization, sometimes after the fact, that participation in one trial precluded them from eligibility for participation in later trials. In addition, communication from researchers and biopharmaceutical companies about ongoing research was described as inconsistent, incomplete, or tailored to other audiences (eg, clinicians). Families reported feeling that expectations about the progress and potential of research were often inappropriately managed by stakeholders.
While each family's experience with DMD diagnosis and care was unique, emerging themes illustrated some challenges and opportunities (Fig. 2, The Clinic). Advisors acknowledged that the emotional toll of the diagnosis was sometimes compounded by the protracted time to diagnosis, inconsistencies in communication, and a lack of compassion and empathy when delivering the diagnosis of DMD. For example, in retrospect, many parents reported feeling concerned about their children well before the confirmed diagnosis. Once care began, clinic visits were described as long, daunting, and stressful, but were also seen by families as a unique opportunity to connect socially and emotionally with other families. Families able to participate in clinical trials described logistical burdens and redundancies between clinical care and trial-related responsibilities.
Daily challenges at home included a lack of access to necessary equipment and services (eg, mental health care, physical therapy) and having to fight for insurance coverage and reimbursements (Fig. 2, The Home). Advisors also described how the effects of DMD extended beyond the physical symptoms of the disease, highlighting a need for recognizing and addressing the cognitive, behavioral, and psychological effects of DMD on children, caregivers, and the family, including feelings of isolation or loss of connection with family and community.
Amid the challenges, advisors highlighted sources of strength and resilience. Examples of parents and children “taking charge” in self-advocation and shaping their own lives, out of necessity and determination, were noted (Fig. 2, The Self). Some families discussed learning to “live in the moment,” focusing on activities that they enjoyed. Families cherished their time together and found it empowering to foster experiences that could become lasting, beautiful memories.
Community was the most-used word in advisor introductions and expectations and was noted as a key source of resilience (Fig. 2, The Community). Connecting and sharing information across the DMD community helped to empower individuals and families to advocate for access to care and to address other challenges of living with DMD. Advisors noted that the energy and support received from the community was tremendously impactful and even life-changing. The advisors also expressed enthusiasm for community-engagement opportunities and a commitment to DMD research. Given the importance of the DMD community, the advisors advocated for increased community outreach to find, reach, and embrace families isolated by geographic, socioeconomic, and/or linguistic barriers. Furthermore, the advisors welcomed the opportunity to engage with stakeholders to increase transparency, to inform development of new medicines, and to create a more collaborative support system.
Advisors' Feedback on the Community-advisor Meetings
Advisors viewed the meetings as a unique opportunity to share their voices with a biopharmaceutical company and to have a meaningful impact on the DMD community. The meetings were also considered to be a valuable occasion to meet other families living with similar challenges.
Of the 30 participants, 21 advisors (70%) responded to the postmeeting survey, of whom 75% stated that this was their first advisor meeting (Fig. 3). Overall, 90% of the respondents rated the overall experience as “very good” or “excellent.” Nearly all of the respondents (95%) rated the meeting topics and workshops as well as group engagement and interaction as “very good” or “excellent”.
Postmeeting Ideas and Implementation
Participants from Wave Life Sciences reported that the engagement with the advisors was emotionally impactful and provided an opportunity to understand the experience of living with DMD and to integrate these insights into the work of Wave Life Sciences. Following the community-advisor meetings, a cross-functional team at Wave Life Sciences developed an initial framework for addressing areas of unmet need emphasized by advisors that could be incorporated into the company's activities. Key recommendations included community education on the therapeutic-development and clinical-trial processes; increased data sharing with the community; use of multilingual communication and virtual technology for improving outreach; and the formation of a coalition for facilitating research collaboration and exploration, as well as community education and engagement.
Understanding and applying the perspectives of patients and caregivers can inform a biopharmaceutical company's development of holistic solutions that address unmet needs beyond clinical symptoms. In this vein, the Wave Life Sciences community-advisor meetings described here were purposefully structured to foster an open, caring, and empowering environment so that advisors could share their experiences and perspectives candidly. The key insights and unmet needs identified through this collaborative approach are intended to inform the development of comprehensive, meaningful therapies and programs for patients with DMD and their caregivers.
Unlike conventional approaches focused on medical education, this format was designed to create a highly interactive and comfortable environment for advisors to communicate on themes, messages, and experiences they considered to be most important. A Wave facilitator led an interactive exercise that allowed advisors to channel memories of experiences, emotional responses, and the resulting impact into a more positive outcome: a visual storyboard of shared reality. Advisors noted feeling heard and understood as a result of the exercise. This patient-centric approach provided advisors the opportunity to educate and communicate directly with members of Wave Life Sciences. Furthermore, the supportive environment established in this type of setting may extend beyond the meeting sessions, providing renewed hope and enabling caregivers to broaden and deepen their connections within the community.
According to the advisors, conventional engagement between biopharmaceutical companies and patients/caregivers can often be limited or one-sided. Many advisors, in fact, explained this was their first interaction of this kind with a biopharmaceutical company. A crucial discussion point remains: How can biopharmaceutical companies, particularly in rare disease, apply this methodology to partner with patients and families to obtain a deeper understanding, identify insights, prioritize needs, and co-create programs to address them?
Community engagement helps to empower caregivers and patients, particularly those living with rare disease, by giving them an opportunity to build a sense of community through an exchange of knowledge or experiences, to contribute directly to the therapeutic-development process, and to have a positive impact on the lives of other members of their communities.
Engaging patients and caregivers early in the therapeutic-development process can also help to identify crucial unmet needs, which can aid in the development of a patient-centric target–therapeutic profile or support strategic decision making.
Furthermore, community engagement during clinical development can enable a patient-centric study design (eg, end points of relevance to patients) as well as improve enrollment, retention, treatment adherence, and the overall patient experience.
Many of these benefits were also observed during the community-advisor meetings on DMD. Emotional storyboarding and the Moments that Matter exercises provided advisors with an opportunity not only to reflect on their journey but also to identify and characterize their evolving unmet needs. Advisors also exchanged tangible strategies for improving their daily lives and for navigating obstacles (eg, insurance coverage and reimbursements) that cannot be readily addressed by health care providers. Although clinical-trial design was not the primary focus of these meetings, the advisors' experiences with clinical trials helped members of Wave Life Sciences to better understand potential challenges or barriers to consider and/or address when designing new clinical trials.
Despite the potential benefits for therapeutic development, community engagement is challenging and often remains underutilized in rare diseases like DMD. Engagement may be limited by the small number of families and individuals living with rare diseases. Logistic and practical challenges associated with traveling for a full-day meeting may further limit participation,
thereby potentially skewing engagement toward high-income families or those with access to greater resources. Patients and caregivers may be less inclined to participate due to poor impressions from past engagements and/or of biopharmaceutical companies, including a false appearance of inclusiveness.
The heterogeneity of patients' experiences with rare disease and the inherent bias that patients and caregivers may have toward advocating for their own needs may lead to findings that are not necessarily reflective of the broader community.
For the community-advisor meetings, members of Wave Life Sciences established a relationship with the advisors through premeeting discussions, which helped to set clear expectations about the engagement. Three separate community-advisor meetings were held across the United States to facilitate participation and to enhance geographic and demographic diversity. The meetings were also carefully designed to ensure that the advisors had an opportunity to share their experiences and insights through small group activities, such as the emotional storyboarding, and to collectively reflect on these shared experiences to prioritize the key unmet needs that emerged. An effort was also made to continue engagement and relationship building through postmeeting updates.
The needs of families with DMD or other rare diseases are often complex and underserved; biopharmaceutical companies must consider care that extends beyond treating the clinical symptoms of the disease. Insights gained through community engagement may help biopharmaceutical companies working in DMD to better understand the patient journey and the unmet needs of patients' families, and to facilitate the development of more impactful treatments, programs, and services. Lessons from this unique approach for successful and meaningful community engagement may be applied to similar engagement initiatives in DMD or other rare diseases.
All of the authors were involved in meeting design, participated in the community-advisor meetings and postmeeting ideation, and contributed equally to the analysis and interpretation of the data and in the preparation of the manuscript.
This study was funded by Wave Life Sciences Ltd . J. Smith and K. Damm are employees of Wave Life Sciences. G. Hover and J. Chien are employees of Imbue Partners LLC, which was contracted by Wave Life Sciences to support the research described in this article. The authors have indicated that they have no other conflicts of interest with regard to the content of this article.
We thank all participants and their families who attended the advisory meetings and shared their valuable insights for supporting this work. We thank the DMD patient-advocacy community for support in identifying participants. In particular, we thank Parent Project Muscular Dystrophy (PPMD) for conducting outreach to potential participants through its outreach network, PPMD Connect. We thank Disha Patel, PhD (Chameleon Communications International, with funding from Wave Life Sciences), for editorial assistance in the preparation of this report.
Engaging patients and caregivers managing rare diseases to improve the methods of clinical guideline development: a research protocol.