Patient reported outcome measures in rare diseases: a narrative review

Research output: Contribution to journalArticlepeer-review


External organisations

  • University Hospitals Birmingham NHS Foundation Trust
  • College of Medical and Dental Sciences, The University of Birmingham
  • Birmingham Childrens and Womens Hospital
  • Liver Transplant and Hepatobiliary Pancreatic Unit, Queen Elizabeth Hospital Birmingham
  • Queen Elizabeth Hospital Birmingham, Queen Elizabeth Medical Centre


Patient reported outcome measures (PROMs) are used to capture the patient's views about their health status. Integrating PROMs in rare disease research and clinical practice may help improve our understanding of the impact of these diseases and their treatments on patient’s quality of life and symptoms.
This review aims to explore the current use of PROMs in rare diseases. The criteria for selection of appropriate PROMs and the implementation of PROMs in research and clinical practice are discussed. The utilisation of PROMs in clinical trials and rare disease registries as tools to understand the impact of rare diseases and their treatment on patients are explored. Finally, future research areas for PROM advancement in rare diseases are identified.
The importance of ensuring that the patients voice is central to clinical decision making is key to understanding and delivering therapeutic intervention. The lack of valid PROMs and difficulties in validating currently available measures contribute to the difficulties in identifying effective treatments and disease-specific PRO. Small patient populations means identifying suitable PROMs and evaluating their psychometric properties may require creative and pragmatic solutions. The introduction of technological advancements, patient registries and psychometric approaches such as Rasch analysis, computer adaptive testing and item banks may facilitate the use of PROMs in rare disease. A recent taskforce report also offers comprehensive suggestions for PROM selection and utilisation in clinical trials using alternate approaches. Together these suggested solutions may offer the opportunity for future developments of therapeutic interventions for people living with rare diseases.


Original languageEnglish
Article number61
Number of pages9
JournalOrphanet Journal of Rare Diseases
Publication statusPublished - 23 Apr 2018