Examining the impact of different country processes for appraising rare disease treatments: a case study analysis

Abstract
Background. Conventional appraisal and reimbursement processes are being challenged by the
increasing number of rare disease treatments (RDTs) with a small evidence base and often a high
price. Processes to appraise RDTs vary across countries; some use standard processes, others have
separate processes or adapted processes that explicitly deal with rare disease specificities. The
objective of this study was to examine the impacts of different appraisal processes for two RDTs.
Methods. A case study analysis was conducted using countries with different forms of
appraisal processes for RDTs for which public health technology assessment (HTA) reports
were available. Two contrasting RDTs were chosen according to the criteria: rare versus
ultra-rare treatment, affecting child versus adult, life-threatening versus disabling.
Information from public HTA reports for each country’s RDT appraisal was extracted into
templates, allowing a systematic comparison of the appraisals across countries and identification
of the impact of the different processes in practice.
Results. Reports from Belgium, England, France, Germany, Italy, Netherlands, Norway,
Scotland, Sweden, and the USA were selected for nusinersen (for spinal muscular atrophy)
and voretigene neparvovec (for inherited retinal disorders). Countries with separate or
adapted processes had more consistent approaches for managing RDT-related issues during
appraisal, such as stakeholder involvement and criteria to address the specificities of RDTs,
creating more transparency in decision-making.
Conclusions. Findings suggest that separate or adapted approaches for RDT appraisal may facilitate
more structured, consistent decision-making and better management of RDT specificities.