This executive summary outlines a joint IVI–EveryLife Foundation project to improve how rare disease treatments are evaluated and valued in healthcare decision-making. It explains that traditional research and value assessment methods struggle in rare diseases due to small populations, limited data, and lack of consensus on appropriate outcomes, which can restrict patient access to innovative therapies. Through a multi-stakeholder process—including a diverse steering committee, three roundtables, and literature review—the project identified seven key themes critical to patient-centered outcomes research in rare diseases: the patient journey over time, the caregiver journey, early and ongoing engagement, data and methods, economic impacts, scientific spillover, and identifying common patient-centered outcomes for economic modeling. The summary highlights that many outcomes (such as physical functioning, fatigue, mental health, work, and economic impacts) are shared across rare diseases and concludes that centering patient and caregiver perspectives, using mixed methods, and improving data collaboration are essential to advancing equitable, meaningful value assessment in rare disease research.
