Patient-led research empowers patient advocacy organizations (PAOs) to design, govern, and co-create research programs that reflect the lived experience of their patient communities. In rare disease innovation, PAOs are evolving from supportive roles to strategic collaborators, shaping research agendas and driving real-world impact. Those that do not modernize risk missing funding, limiting trial access, and losing influence in their community.
The FDA’s Patient-Focused Drug Development (PFDD) guidance and similar global initiatives encourage the systematic inclusion of patient experience data in clinical research and regulatory applications (FDA, 2023). As a result, PAOs are increasingly shaping research agendas, influencing study endpoints, and ensuring research reflects unmet needs (NEJM Catalyst, 2024). This leadership is especially critical in rare diseases, where PAOs often drive the only active research efforts for their patient communities.
PAOs proximity to patient communities also offers unique insight into quality-of-life priorities and barriers to participation in traditional research models. In addition, PAO leaders frequently engage with regulatory agencies at the division level, gaining nuanced understanding of pathways, and helping their organizations navigate complex processes more effectively.
Patient-led research means PAOs design, govern, and co-create research programs. Their leadership enables identification of gaps in care and research and ensures that studies reflect the lived experience of their communities.
PAOs accelerate impact in rare disease research through three key strategies:
For underfunded or emerging PAOs, starting with a focused pilot registry or community needs assessment lays the groundwork for future investment. Modular registries are flexible platforms that allow PAOs to start small and expand over time, integrating real-world data and supporting multilingual participation.
For example, a rare hematology foundation used a modular registry via IQVIA to collect patient-reported outcomes and align research with donor and life science priorities, ensuring sustainability and relevance. Sustainability means PAOs can maintain and grow their research infrastructure, funding, and impact over time.
Modular registries also support functionality such as dynamic consent, multilingual interfaces, and transparent governance. These features enable patient-mediated data sharing and allow PAOs to act as responsible stewards of patient data, especially as access expands to electronic health records and patient-reported outcomes.
Organizations should act now to seek out next-generation registries and patient-mediated data sharing tools.
PAOs interested in evidence generation can begin by identifying priority research questions, engaging their communities for input, and exploring partnerships with academic institutions or technology providers. For those looking to launch data initiatives to support evidence generation, IQVIA’s platform offers configurable tools and expert guidance to help organizations launch and scale their early-stage efforts.
In transforming vision to reality, scalable, patient-led approaches should emphasize equity, sustainability, and community benefit.
The advancement of rare disease research involves providing PAOs with appropriate tools, collaborations, and policy frameworks to support their involvement in innovation. While mature PAOs may already be leading research initiatives, smaller or newer organizations can also play a pivotal role. By leveraging modular tools (i.e. patent reported outcomes (PROs), wearable and device integration, dynamic consent, AI-powered chart abstraction, global participation modules, and community engagement tools) and strategic guidance, resource-constrained PAOs can also build impactful research programs. Starting with a focused and small lays the groundwork for future investment.
As patient organizations take on a greater role in research, their responsibility as stewards of sensitive health data becomes even more important, especially in rare diseases, where data is often limited and fragmented. High-quality research depends not only on robust and representative data, but also on the ethical collection, management, and sharing of that data in ways that respect patient rights and community trust.
Ethical data stewardship extends beyond compliance with privacy regulations. It involves building transparent, patient-centered systems that empower individuals and communities to participate in research with confidence. When patients trust that their data will be handled responsibly and used to advance meaningful research, they are more likely to contribute, strengthening the quality and impact of the evidence collected.
Patient communities are raising important questions about how their data are used.
Modern registries and data platforms now offer features such as patient-mediated data sharing, dynamic consent, and transparent audit trails. These tools give patients greater control and visibility over how their data are used, reinforcing ethical practices while advancing research. As access to electronic health records and patient-reported outcomes expands, many PAOs are adopting these approaches to ensure data is managed ethically and that value returns to the community.
Organizations making the greatest impact are those that prioritize equity, sustainability, and community benefit, aligning data strategies with both scientific and donor priorities, and building registries that reflect lived experience and support multilingual participation.
With growing interest in modern registries and patient-mediated data tools, PAOs can begin exploring by identifying key research questions, inviting community perspectives, and forming strategic partnerships with academic and technology leaders.
IQVIA supports patient-led research efforts with customizable tools and expert guidance. We provide patient organization-specific advisory services, technology platforms, and scalable infrastructure that empowers PAOs to lead with confidence.
Contact us to discuss your registry strategy or to request a demo: ppa-contact@iqvia.com
References:
1. FDA. Patient-Focused Drug Development Guidance Series. U.S. Food & Drug Administration. [https://www.fda.gov/drugs/development-approval-process-drugs/fda-patient-focused-drug-development-guidance-series-enhancing-incorporation-patients-voice-medical]
2. NEJM Catalyst. Quality Pathway: Elevating the Patient Voice in Value-Based Care. [https://catalyst.nejm.org/doi/pdf/10.1056/CAT.24.0132]
Discover a range of patient registry approaches and a variety of data collection methodologies to efficiently address your research questions.
Incorporate the patient voice in real world studies to improve outcomes for patients and caregivers
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