During HDSA’s 2024 Externally-Led Patient-Focused Drug Development (EL-PFDD) meeting, panelist Ryan expressed a painful fear: “I am extremely worried I will have to tell my kids a second life-changing treatment will be taken from me.” His concern echoed a broader frustration among participants — people living with pre-symptomatic, early, and mid-stage Huntington’s disease (HD) — about the lack of FDA approval for promising therapies.
That frustration deepened just weeks later when Sage Therapeutics announced it would discontinue development of dalzanemdor (formerly SAGE-718), a drug targeting cognitive impairment in HD. One community member wrote to me: “Sage took away the apathy, the death sentence, the sense of not being conscious. For the first time in years, I felt real emotions.” The individual went on to provide a list of 74 ways the experimental medication had a positive impact on daily life.
Both of these moments highlight the gulf between the project goals of HD researchers and medical product developers, and the treatment outcomes people with the lived experience (PWLE) of HD are seeking.
HDSA is taking steps to bridge this divide, based on policy imperatives and learnings from other disease areas, with the aim of creating a resource incorporating the lived experience of people with HD.
Patient-Centered Care as a Policy Imperative
One foundation for addressing this gap was laid with federal policy. The 21st Century Cures Act, signed in 2016, ushered in a new age of patient centricity. Although “patient centricity” lacks an official definition, my personal definition involves creating space for self-identified health care needs and treatment preferences of PWLE and acknowledging PWLE as experts of their own disease.
The 21st Century Cures Act sets ambitious goals to elevate the voice of PWLE by encouraging research approaches that prioritize patients’ needs, preferences, and lived experiences. Notably, it directs the FDA to incorporate patient perspectives into regulatory decision-making when providing guidance both to medical product developers designing clinical trials and to the agency’s review of new drug applications.
The Act followed the Patient Protection and Affordable Care Act of 2010, which created the Patient-Centered Outcomes Research Institute (PCORI). PCORI funds comparative research that “provide(s) reliable, useful information to help people make informed healthcare decisions and improve patient care and outcomes.” Contracts are often awarded to academic institutions, private research organizations and patient advocacy groups. The awards are limited to comparative clinical effectiveness research that compares the benefits and harms of different health care interventions.
Together, these two Acts highlight the growing emphasis on patient centricity at the intersection of research and medical product development.
Reimagining Partnerships in HD Research
When considering deploying a patient-centric research model, institutions conducting research may benefit from introspection and reflection around the organization’s cultural norms. A change in mindset that embraces PWLE as co-creators in the research process may be necessary.
In 2021, I co-authored a report summarizing a PCORI-funded project awarded to the Institute for Patient- and Family-Centered Care and the Depression and Bipolar Support Alliance. The project culminated in the publication Amplifying Peer Priorities in Mood Disorders Research: Recommendations for Creating and Sustaining Meaningful Partnerships Between Researchers and Peers.
The report presents recommendations developed during a convening of PWLE of major depressive disorder, along with researchers and clinicians. One of the primary goals of the meeting was to explore strategies for fostering and supporting meaningful partnerships between PWLE and researchers.
The paper urges researchers to recognize the strengths, experiences, and insights of PWLE by actively seeking out research authored and led by the community. This shift in attitude moves engagement beyond token involvement, such as reviewing project plans or recruitment materials. It promotes meaningful collaboration in designing research protocols, materials, and overall strategy. As this mindset takes root, genuine power-sharing becomes a natural next step.
Building relationships with the community also opens doors to broader engagement, reaching beyond the “usual suspects” by meeting people where they are — outside of the clinic or the lab. While this approach may take time to fully develop, investing in training and mentoring PWLE as full research partners delivers long-term benefits. This includes recognizing their expertise by inviting them to co-author publications, co-present at conferences, and actively participate in sharing research findings.
As experts, PWLE should be fairly compensated for their knowledge and contributions. The National Health Council offers a Patient Engagement Fair-Market Value (FMV) Calculator on its website. This tool provides guidance on appropriate compensation and reimbursement for PWLE involved in patient-engagement activities. At a minimum, PWLE should receive equitable compensation for their role as full partners in research projects. Their contributions to activities such as academic paper development and conference presentations should also be recognized and reimbursed at the same rate as other experts, including coverage of conference registration fees and travel expenses.
Building a Patient-Centered Core Impact Set (PC-CIS)
Acknowledging PWLE as equal partners in research requires principal investigators to actively incorporate their expertise in identifying research goals and outcomes. Ryan’s frustration over the discontinuation of the drug dalzanemdor highlights the importance of focusing on patient-identified treatment priorities. The broader frustration expressed by the HD community underscores the urgent need for clinical trial endpoints that more accurately reflect what matters most to patients.
While developing a new Clinical Outcome Assessment (COA) for use in clinical trials can be a lengthy and complex process, starting with a Patient-Centered Core Impact Set (PC-CIS) offers a valuable foundation. It helps ensure that new tools are grounded in the lived experiences and priorities of the patient community.
The National Health Council defines a PC-CIS as a “standardized, patient-derived and patient-prioritized list of the most important impacts a disease and/or its treatments have on a patient’s health and daily life, and that of their family and caregivers.” This information can support:
- the development of new therapies,
- regulatory decision-making,
- the delivery of quality patient-centered health care, and
- the evaluation of the economic value of new treatments.
The Huntington’s Disease Society of America (HDSA) has launched an initiative to develop a Huntington’s Disease Patient-Centered Core Impact Set (HD PC-CIS) to support medical product developers, researchers, and clinicians in their work. Phase 1 of the project focused on gathering impact data directly from the HD community. This included the development and deployment of the HDSA HD Symptoms and Treatment Impact Survey. The survey was designed with input from the HDSA Family Council, which helped shape the questions and response options. The survey results served as the foundation for the EL-PFDD meeting. Insights shared during that meeting are captured in the Voice of the Patient report by HDSA. These reports live on the FDA website.
With Phase 1 completed, our focus now shifts to the prioritization process, which includes incorporating input from a broader range of stakeholders.
From Insights to Action
In November 2025, HDSA will host a multi-stakeholder workshop. Participation will include PWLE, FDA representatives, researchers and industry with the goal of reaching consensus on concepts of interest. In 2026, follow-up roundtables will finalize the core set and define each concept. Once complete, the HD PC-CIS will be a powerful resource to ensure that the voices of PWLE are embedded in research and product development.