Background: There has been a growing emphasis on health-related quality of life (HRQoL) as an important outcome in rare disease drug development, although its assessment may be useful outside the drug development context, including in clinical applications or natural history studies. Central to assessing quality of life in health research is utilizing outcome measures that capture symptoms and impacts of the disease and treatment that are important and relevant to patients. Identifying and implementing valid and reliable tools to measure HRQoL in rare diseases poses unique challenges that often require creative solutions.
Main body: In this commentary, we explore some of the challenges in HRQoL assessment in rare disease, propose solutions, and consider regulatory issues. Some of the solutions discussed entail the use of item banks, adapting existing measures from phenotypically similar disease contexts, use of multi-domain measurement indices, and adapting methods for assessing content validity of existing measures. Current regulatory considerations are discussed and resources outlined.
Conclusion: Quality of life may be the most important endpoint for patients with rare diseases, and the challenges of valid assessment require effort and innovative thinking specific to each context to improve measurement and clinical outcomes.
Keywords: Clinical outcome assessment (COA); Disease-specific; Embedded interviews; FDA; HRQoL; Item banks; Measure adaptation; Multi-dimensional responder index; Rare disease.
© 2021. The Author(s).