OBJECTIVES: There is growing recognition of the importance of including patient perspectives in health technology assessments (HTA), especially for conditions with high unmet need. Some HTA agencies, such as ICER and DMC, have published guidance for patient participation in their assessment processes. Rare diseases are associated with substantial patient burden. The aim of this study is to assess how HTA appraisals in rare diseases have considered patient perspectives, and suggest considerations for manufacturers to include patient perspectives in HTA submissions.

METHODS: Reports published between 2017-2022 for Duchenne muscular dystrophy, spinal muscular atrophy, and hemophilia by ICER (US), NICE (UK), DMC (Denmark) and HAS (France) were screened to identify what patient perspectives were included, methods used to include patient perspectives, and impact of those perspectives on reimbursement recommendations.

RESULTS: Fourteen HTA reports were identified in DMD, SMA, and hemophilia. In both ICER and NICE reviews, submissions (verbal/written) from patient representatives were considered in characterizing the disease burden and validating economic model inputs (i.e., utilities). In the ICER reviews, input from patient groups were also used to define the assessment scope. In a DMC assessment, patient representatives were named as participants of the specialist committee; however, no information was provided on the extent of participation. In one HAS report, data from a treatment satisfaction questionnaire completed by parents were considered.

CONCLUSIONS: Notwithstanding heterogeneity in the process and degree to which patient perspectives are currently being incorporated into decision-making, HTA agencies have demonstrated a recognition of the value of incorporating patient perspectives into their assessments, particularly in describing disease burden and validating economic model inputs. By proactively incorporating patient insights, manufacturers can demonstrate a comprehensive understanding of the patient experience, and enhance the relevance, robustness, and patient-centeredness of their submissions, possibly improving the potential for successful HTA outcomes.