Measuring health-related quality of life in patients with rare disease (Lenderking et al., 2021)

Measuring Health-Related Quality of Life in Patients with Rare Disease

This publication provides practical guidance on measuring health-related quality of life (HRQoL) in rare disease research and highlights the importance of incorporating patient-reported outcomes (PROs) into clinical trial protocols. Recognising that many rare diseases have a substantial impact on patients' daily functioning and well-being, the paper discusses how HRQoL assessments can complement traditional clinical endpoints by capturing treatment benefits that are meaningful from the patient perspective. It is a valuable resource for researchers developing protocols that include patient-centred outcome measures.

The publication supports protocol development by providing recommendations on selecting fit-for-purpose HRQoL and PRO instruments, evaluating their validity, reliability and responsiveness, and considering their appropriateness for the target rare disease population. It discusses challenges such as small sample sizes, disease heterogeneity, limited availability of disease-specific instruments, cross-cultural adaptation, respondent burden, and missing data. The paper also highlights the importance of involving patients and caregivers in identifying relevant concepts and selecting outcome measures that reflect the lived experience of the disease.

For researchers designing rare disease clinical trials, this resource supports the selection of meaningful endpoints, improves the quality and interpretability of patient-reported data, and promotes the integration of patient perspectives into protocol development. It complements methodological and regulatory guidance by helping investigators ensure that HRQoL and PRO assessments are scientifically robust, feasible to implement, and relevant to patients, clinicians and decision-makers.