Patient reported outcome measures in rare diseases: a narrative review (Slade et al, 2018)

This review provides an overview of the challenges and opportunities associated with the use of patient-reported outcome measures (PROMs) in rare disease research. It highlights the importance of measuring outcomes that reflect patients’ symptoms, functioning, quality of life and treatment experiences, in addition to traditional clinical and biological endpoints. The paper is particularly relevant for protocol development because the selection of meaningful and scientifically robust outcome measures is a key challenge in rare disease clinical trials.

The publication supports researchers in planning outcome assessment strategies by discussing key considerations for selecting, developing and evaluating PROMs, including conceptual relevance, measurement properties, validation, feasibility of administration, respondent burden and interpretation of results. It also addresses challenges specific to rare diseases, such as limited patient populations, disease heterogeneity, lack of existing disease-specific instruments, small sample sizes and the need to balance comprehensive assessment with participant burden.

For researchers developing rare disease clinical trial protocols, this resource provides practical support for identifying appropriate patient-centred outcomes and integrating PROMs into study designs. It encourages consideration of patients’ perspectives when defining endpoints and selecting measurement instruments, helping to ensure that clinical trials capture outcomes that are meaningful, relevant and interpretable for patients, healthcare professionals and decision-makers.