This ISPOR poster presents a mixed-methods literature review examining how patient-centered outcomes are addressed in health technology assessment (HTA) and economic evaluation for rare diseases. Reviewing more than 1,000 peer-reviewed and gray literature sources, the study finds that most published work focuses on HTA frameworks and methods, with limited attention to patient engagement and patient-centered outcomes. Through targeted reviews of 11 rare diseases and stakeholder input, the authors identify a set of common outcomes across multiple rare conditions, including physical functioning, fatigue, pain, mental health and cognition, social relationships, employment, economic impacts, and sleep. The poster concludes that systematically identifying shared patient-centered outcomes across rare diseases could reduce uncertainty in evidence generation, lessen the burden on researchers, and accelerate more timely, patient-informed value assessment of rare disease therapies.
