OBJECTIVES: Comprehending the attributes and outcomes that hold significance for patients grappling with rare diseases.

METHODS: Eight stakeholder engagement discussions brought together patients, caregivers, payers, manufacturers, employers, regulators, and researchers within the rare disease domain. These discussions aimed to explore challenges and opportunities in rare disease patient-centered outcomes research and comparative effectiveness research, with the overarching goal of identifying patient-centered outcomes specific to rare diseases. A targeted literature review was undertaken on both PubMed and a review of gray literature to enhance our understanding of outcomes for 11 specific rare diseases, including Duchenne muscular dystrophy, spinal muscular atrophy, myasthenia gravis, amyotrophic lateral sclerosis, sickle cell disease, amyloidosis, cystic fibrosis, beta thalassemia, hemophilia, Sanfilippo syndrome, and Huntington’s disease.

RESULTS: Applying both general and specific rare disease search terms, a total of 999 articles were retrieved. During the abstract review, an additional 14 articles were incorporated. Ninety-two articles were identified as closely addressing patient-centered outcomes. A review of grey literature through rare disease organization websites and reports (N=30) complemented our findings. Through consultation and discussions with stakeholders, patient-centered outcomes common to more than 5 out of the 11 specific rare diseases were identified. These encompass physical functioning (motor, respiratory, and speech), fatigue, social relationships, pain, mental deterioration, mental health, employment/work, economic impacts, and sleep.

CONCLUSIONS: By utilizing a mixed-method approach, outcomes research can be more patient-centered. Understanding patient-centered outcomes across various rare diseases not only addresses uncertainties in the evidence base but also alleviates the burden on researchers tasked with defining outcome measures for each individual disease. Moreover, this approach has the potential to expedite cross-cutting research, offering deeper insights into patient preferences and enhancing the value assessment of emerging technologies for rare diseases.