In 2015, almost ten years after Ingrid de Groot was diagnosed with dermatomyositis, she was invited to a European Neuromuscular Center workshop on “outcome measures and clinical trial readiness in myositis” to share her lived experience with a group of global myositis experts. It was there that she discovered she had a story to tell, that her experience of living with myositis was an important piece of the puzzle in helping healthcare providers and researchers understand the disease in a more complete way. She was an expert, and they needed her.
In that same year, after years of various treatments and many hospitalizations, myositis ended her career as a social worker for Child Protection Services in the Netherlands where she lives. But while the door on her professional career closed, another door opened: Ingrid was invited to participate in more projects and study groups to discuss or review study proposals and collaborate as a patient research partner (PRP). At the same time, she learned a lot more about myositis in all facets, which was very gratifying for someone who was eager to learn. In short, she found new meaning.
Ingrid, who is a member of TMA’s Medical Advisory Board, serves as a PRP for several international organizations. A PRP is a member of a research group who contributes the patient’s perspective by actively collaborating with investigators as an equal partner. PRPs provide “experiential knowledge” that is based on introspection and shared reflection of illness experience and is considered a valid source of knowledge.
This sort of participation in the scientific process by those who live with rare diseases is not simply a best practice, it’s essential to the relevance and quality of the whole research process. Outcomes improve as a result of patient participation.
With small, dispersed populations and limited commercial incentives, rare disease communities have had to develop innovative ways to shape research agendas, speed discovery, and ensure that studies reflect the patient’s lived experience. PRPs have emerged as a central figure in this process. These trained patients or care partners work directly with researchers to improve the quality, relevance, and impact of studies.
OMERACT (Outcome Measures in Rheumatology) is an international organization that establishes high‑quality, standardized ways to measure outcomes in rheumatology research. It brings together researchers, clinicians, industry professionals, and patient research partners to agree on what should be measured in clinical trials and how to measure it reliably. It’s one of the front runners in including PRPs in all research projects.
Validating the Patient’s Experience
In 2015, quality of life was not something researchers addressed. But living with myositis can significantly reduce one’s quality of life, making it an important unmet need that should be included in future research.
A survey, which included 630 patients, care partners, and healthcare providers in 48 countries, was developed by the OMERACT Myositis Working Group to establish which are the most impactful consequences of myositis in daily life for patients and their care partners. The study revealed that patients and providers disagreed about what was most impactful. While patients and their care partners identified things that hindered them in daily living, such as pain and fatigue, healthcare providers mentioned the things they encountered in clinical care, like lung, joint, and skin symptoms.
“For me, pain and fatigue were always the most debilitating features of myositis,” Ingrid says. “To see this acknowledged in so many responses by patients from so many countries, despite differences in age, gender, cultural background, and subtypes of myositis, almost felt like a triumph. This was an enormous achievement!”
Further exploration also highlighted symptoms that were, until then, unrecognized by providers and researchers as being part of a myositis diagnosis. One such symptom was tremors. Clinicians misunderstood this response from the patient survey, thinking it was a neurological problem. PRPs in the working group were able to clarify that what patients meant by “tremors” was, in fact, shaking in their limbs caused by muscle fatigue.
PRPs Throughout the Research Process
This illustrates the essential role of the patient perspective. Across the range of rare disease research, PRPs can serve in a number of different roles. Ingrid has served in all of these roles, often in a fluid, holistic way throughout the research process.
- In a consultative role, researchers lead the study but ask those who live with the disease for input. PRPs serve as expert reviewers, offering insights on feasibility, burden, and clarity. They may comment on consent forms, recruitment strategies, or outcome measures—especially important in conditions like myositis where validated endpoints are sometimes not well described. While PRPs are advisors rather than decision‑makers, PRPs help ensure that protocols reflect the realities of small, medically complex patient populations.
- PRPs as collaborators work closely with researchers throughout the project as active partners throughout the research lifecycle. In rare disease communities, PRPs have deep experiential knowledge of the lived experience of the disease that complements scientific expertise. They may help define research priorities, codesign protocols, interpret data, or coauthor manuscripts. Many rare disease organizations and drug developers formalize this role through advisory boards or steering committees that include PRPs. Collaboration strengthens trust, improves recruitment, and ensures that studies address the questions that really matter to families navigating uncertain or progressive conditions.
- Coproduction means that patients and researchers share power and make decisions together. For rare disease communities—many of which have experienced years of misdiagnosis, limited treatment options, or research neglect—coproduction can be transformative. PRPs in this model act as joint decision‑makers with the scientists, shaping priorities, governance structures, and communication strategies. They may help design natural history studies, build patient registries, or codevelop patient‑reported outcome measures. Coproduction requires time, transparency, and institutional support, but it often produces research that is more ethical, relevant, and sustainable.
- Rare disease communities have pioneered patient‑led research, and PRPs frequently play leadership roles. In this model, patients or care partners initiate and drive the research agenda, sometimes forming registries, funding studies, or identifying therapeutic targets before researchers become involved. PRPs may act as project leads, organizers, or scientific collaborators, drawing on community networks and lived experience to accelerate progress. This model can speed up progress, especially when traditional research is slow or limited. However, it may require additional support to meet regulatory and methodological standards.
- Citizen Science approaches allow many patients to take part in research by sharing information through apps, wearable devices, or online surveys. PRPs often serve as facilitators and translators, making sure the tools are easy to use and capture meaningful symptoms, and that findings are communicated back to the community in a way that is understandable. These models democratize participation and can reveal patterns invisible in small clinical cohorts, though they sometimes raise questions about privacy and data quality.
Across all these approaches, PRPs like Ingrid help connect scientific research with real patient needs. When it comes to rare disease research, their role is especially important because every voice can make a difference.
“Patients provide a unique perspective of lived experience that is complementary to that of clinicians and researchers,” Ingrid says. “Moreover, the relevance and quality of the research process and outcomes improve as a result of patient participation. Patient engagement strengthens opportunities for the dissemination and implementation of research.”
