OBJECTIVES: Cost-effectiveness analyses have long been used to compare the value of both rare and common diseases. However, many orphan drugs have been approved despite exceedingly high incremental cost-effectiveness ratios (ICER). The purpose of this study was to compare published ICER estimates, as a measure of relative value, across several orphan drugs which are indicated to treat rare diseases in pediatrics and adults.

METHODS: Published literature was reviewed to identify orphan drugs indicated to treat both pediatric and adult populations. A rare disease was defined as a condition with a prevalence of ≤620/million persons. Only treatments which had available ICER, quality adjusted life year (QALY), and life years gained (LYG) data were included. Where US data were not available, EU data were preferentially selected. All cost data were adjusted to 2018 USD utilizing the Consumer Price Index for Medical Care.

RESULTS: Fifteen orphan drugs indicated in pediatrics and adults had sufficient data to be included in this study. Disease prevalence ranged from <1 to 100/million persons, of which 80% treated ultra-rare diseases (affecting <20/million persons). ICERs ranged from ($13,666/QALY to $7.1 million/QALY. Incremental QALYs ranged from 0.7 to 33.21. Considering both the Institute for Clinical and Economic Review’s and the National Institute for Health and Care Excellence’s value frameworks, only 3 orphan treatments met their cost-effectiveness threshold limit of $150,000/QALY and ~$125,000/QALY, respectively.

CONCLUSIONS: Although cost-effectiveness analyses have become the mainstay in assessing value across therapeutic areas, our analysis confirms that currently approved orphan drugs far exceed ICER thresholds. Relative value assessments use analog products that have demonstrated benefit across necessary domains and met willingness to pay thresholds as documented through approval. Assessing the relative value of a treatment may be a more informative and granular approach to value assessment than traditional cost-effectiveness analyses.