OPERATIONALIZING PATIENT ENGAGEMENT IN RARE DISEASE VALUE RESEARCH LESSONS FROM DISEASE-SPECIFIC USE CASES
Author(s)
Michelle(YuanYuan) Cheng, MHS1, Richard Chapman, MS, PhD1, Geir Falck-Pedersen, MHS2;
1Center for Innovation & Value Research, Alexandria, VA, USA, 2Johns Hopkins University, Baltimore, MD, USA
1Center for Innovation & Value Research, Alexandria, VA, USA, 2Johns Hopkins University, Baltimore, MD, USA
OBJECTIVES: Patient engagement is widely endorsed in rare disease research, yet researchers often lack practical, standardized guidance for partnering with patients and caregivers to improve real-world evidence generation and support timely access decisions. This work synthesizes cross-cutting lessons from multiple rare disease engagement activities to inform a Rare Disease Patient Engagement (RDPE) Guidance and Checklist designed to strengthen patient-centered comparative clinical effectiveness research (CER) and value research used by decision-makers.
METHODS: We compared feedback collected through multi-stakeholder engagement activities conducted across several rare disease use cases, including sickle cell disease, leukodystrophies and generalized myasthenia gravis (gMG). Participants included patients, caregivers, researchers, payers, and other stakeholders involved in rare disease research. Engagement outputs were thematically synthesized to identify recurring recommendations, areas of disagreement, and practical implementation needs. Findings were mapped to domains covering the research lifecycle, with emphasis on steps affecting evidence credibility, feasibility, and usability for access decisions (e.g., outcomes selection, study burden, and documentation of engagement).
RESULTS: Across use cases, stakeholders consistently emphasized: (1) engagement must begin early and remain ongoing, with clear roles and shared decision-making; (2) materials must be accessible, using plain language and practical examples; (3) recruitment and participation strategies should support representation and reduce burden; and (4) evidence plans should capture outcomes that matter to patients and families beyond clinical endpoints, including whole health quality of life and practical impacts that can shape value discussions. Stakeholders also called for clearer “how-to” guidance (including documentation) to make engagement transparent and actionable.
CONCLUSIONS: Cross-use-case engagement insights can be converted into concrete guidance that helps teams operationalize patient partnership in rare disease CER and value research. The RDPE Guidance and Checklist aims to improve consistency, transparency, and relevance of evidence to inform access and coverage decisions, while supporting more meaningful participation by rare disease communities.
METHODS: We compared feedback collected through multi-stakeholder engagement activities conducted across several rare disease use cases, including sickle cell disease, leukodystrophies and generalized myasthenia gravis (gMG). Participants included patients, caregivers, researchers, payers, and other stakeholders involved in rare disease research. Engagement outputs were thematically synthesized to identify recurring recommendations, areas of disagreement, and practical implementation needs. Findings were mapped to domains covering the research lifecycle, with emphasis on steps affecting evidence credibility, feasibility, and usability for access decisions (e.g., outcomes selection, study burden, and documentation of engagement).
RESULTS: Across use cases, stakeholders consistently emphasized: (1) engagement must begin early and remain ongoing, with clear roles and shared decision-making; (2) materials must be accessible, using plain language and practical examples; (3) recruitment and participation strategies should support representation and reduce burden; and (4) evidence plans should capture outcomes that matter to patients and families beyond clinical endpoints, including whole health quality of life and practical impacts that can shape value discussions. Stakeholders also called for clearer “how-to” guidance (including documentation) to make engagement transparent and actionable.
CONCLUSIONS: Cross-use-case engagement insights can be converted into concrete guidance that helps teams operationalize patient partnership in rare disease CER and value research. The RDPE Guidance and Checklist aims to improve consistency, transparency, and relevance of evidence to inform access and coverage decisions, while supporting more meaningful participation by rare disease communities.
Conference/Value in Health Info
2026-05, ISPOR 2026, Philadelphia, PA, USA
Value in Health, Volume 29, Issue S6
Code
PCR105
Topic
Patient-Centered Research
Disease
SDC: Rare & Orphan Diseases