Clinical Research: Phase 1 - Phase 4

Rare Disease Patients as Partners: Value Beyond Enrollment

In 2020, the European Joint Programme for Rare Diseases developed a guide on patient partnerships in rare disease research projects. This guide still rings true today, and we summarize in this blog the key points for sponsors of rare disease studies to consider when engaging patients and their representatives in study planning.

If you’re developing novel rare disease therapeutics, you’ve likely encountered the value of engaging patients at various points of your clinical development process. But to what extent are you collaborating with patients? Are there ways to further apply their valuable insights to optimize your study’s success? Recently, there has been increased emphasis on creating processes and frameworks to encourage sustainable patient partnerships and to establish a paradigm of patient-centered research that begins at the earliest stages and continues throughout all phases of development. This paradigm shifts the focus from engaging patients in ancillary roles, such as assisting with recruiting patients to a trial or enrolling as patients themselves, to empowering them in more active roles where they drive greater influence of the study development plan.

What does it mean to be a patient partner?

Patient partnerships are relationships wherein patients and their representatives, including family members, caregivers, or advocacy groups, participate in research through any or all of the following:

  • Increasing awareness of rare diseases
  • Advocating for policies that improve the lives of people with rare diseases
  • Taking part in clinical trials
  • Supporting study recruitment
  • Reviewing study protocols to ensure feasibility and relevance from the patient perspective
  • Co-creating study-related materials and communications
  • Serving as official partners or co-investigators in research projects
  • Jointly presenting research findings

The potential scope of patient partnerships is broad, ranging from passive participation to proactive involvement. In rare diseases, patients and their representatives are often eager to contribute, and patient partnerships empower them to play an active role in shaping research and driving science forward. When they are involved in developing research and recruitment strategies, patients and their representatives are given a sense of ownership and are more willing to invest time and effort in ensuring those strategies are successfully executed. The following figure helps demonstrate the breadth of patient partnerships. 

Figure 1

Value of patient partnerships in rare disease research

Understanding what matters to the patient helps ensure that an investigational therapy addresses patient needs and priorities and that proposed clinical studies are feasible and practical for the target population. It may also contribute to faster recruitment, higher retention, and even lower costs in clinical studies due to a reduction in unnecessary tests or procedures.

Patients can help researchers better understand how their efforts will impact patients’ lives in the real world in terms of treatment options and access to care. The ability to illustrate clearly and succinctly how a study translates into concrete patient benefits may help researchers and sponsors secure funding or investment. As interested third parties, patients may also facilitate collaborations among diverse partners, resulting in the creation of research consortia dedicated to developing expertise in a specific rare disease. In addition, patients may be able to help sponsors more effectively communicate potential study benefits or frame study findings so that they are understandable and relevant to all stakeholders involved in finding solutions for rare diseases.

Patients may accrue personal benefits from these partnerships as well. In a recent review, patient partners in clinical studies reported the following benefits:1

  • Acquisition of practical skills
  • Increased knowledge about research processes
  • Increased confidence in identifying themselves as advocates or experts
  • Access to a social network of supportive peers
  • Empowerment as an advocate for change
  • Further opportunities to be involved in research

Best practices for meaningful patient partnerships

Given the myriad ways in which the patient voice can be integrated into the research and development process, it is critical to define the scope of the partnership and to establish clear roles and responsibilities for both patients and researchers at the outset, with supporting policies and documentation. This helps ensure that all stakeholders have sufficient time to dedicate to establishing and maintaining the partnership. It may also be useful to plan for contingencies, such as scenarios where a change in the patient’s health over the course of the partnership limits their ability to participate.

Clear, open, two-way communication is essential for building trust and understanding and for ensuring that all stakeholders are working toward a common goal. While researchers may be versed in the science of a disease, patients are experts on the impact of the disease in real life. Taking the time to truly listen to how patients feel and then translating that into opportunities for research to improve not just outcomes, but overall quality of life, can be transformative. Finding that common language is an integral part of putting the patient first, from the earliest stages of the development lifecycle.

Driving innovation forward, together

With proper planning, patient partnerships can create value throughout the research and development continuum. The most fruitful partnerships involve true collaboration—not just information exchange, but mutual learning where both patients and researchers gain deeper insight into each other’s challenges and capability to promote life-changing scientific advancement.

[1] Bird M, et al. Preparing for patient partnership: A scoping review of patient partner engagement and evaluation in research. Health Expect. 2020;23(3):523-539.