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Improving Interpretation of Evidence Relating to Quality of Life in Health Technology Assessments of Rare Disease Treatments

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Abstract

Rare diseases are often severe, debilitating, life-limiting conditions, many of which occur in childhood. These complex conditions have a wide range of clinical manifestations that have a substantial impact on the lives of patients, carers and families and often produce heterogeneous clinical outcomes. Therefore, the evaluation of quality-of-life (QoL) impacts is important. In health technology assessment (HTA), patient-reported outcome measures (PROMs) and/or health state utility values (HSUVs) are used to determine QoL impacts of new treatments, but their use in rare diseases is challenging due to small and heterogeneous populations and limited disease knowledge. This paper describes challenges associated with the use of patient-reported outcomes (PROs)/HSUVs to evaluate QoL in HTA of rare disease treatments (RDTs) and identifies five recommendations to ensure appropriate interpretation of QoL impacts. These were derived from mixed methods research (literature reviews, appraisal document analyses, appraisal committee observations and interviews) examining the use of PROs/HSUVs in HTA of RDTs. They highlight that HTAs of RDTs must (1) understand the QoL impacts of the disease and of treatments; (2) critically assess PRO data, recognising the nuances in development and administration of PROMs/HSUVs, considering what is feasible and what matters most to the patient population; (3) recognise that lack of significant effect on a PRO does not imply no QoL benefit; (4) use different forms of evidence to understand QoL impacts, such as patient input; and (5) provide methodological guidance to capture QoL impacts on patients/carers.

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Authors and Affiliations

  1. Research Centre on Health and Social Care Management (CERGAS), SDA Bocconi School of Management, Milan, Italy

    Elena Nicod, Michela Meregaglia & Amanda Whittal

  2. Acaster Lloyd Consulting Ltd, London, UK

    Andrew J Lloyd

  3. UCB Pharma, Brussels, Belgium

    Thomas Morel

  4. National Institute for Health and Care Excellence, London, UK

    Sheela Upadhyaya

  5. Usher Institute, University of Edinburgh, Edinburgh, UK

    Karen Facey

  6. University of York, Centre for Health Economics, York, UK

    Michael Drummond

  7. London School of Hygiene & Tropical Medicine, London, UK

    Andrew J Lloyd

  8. Dolon Ltd, London, UK

    Elena Nicod

  9. KU Leuven, Leuven, Belgium

    Thomas Morel

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  1. Elena Nicod
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Correspondence to Elena Nicod.

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All authors made substantial contributions to the design of the work. EN drafted the work; all authors revised it critically at several occasions for important intellectual content; all authors approved the version being submitted. All authors agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

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This research was partially funded by the European Commission’s Horizon 2020 research and innovation programme and was undertaken under the auspices of IMPACT-HTA (Grant number 779312). The results presented here reflect the authors’ views and not the views of the European Commission. The European Commission is not liable for any use of the information communicated.

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Competing interests

Outside of this research: Elena Nicod and Amanda Whittal are also employed by Dolon Ltd. Andrew Lloyd is an employee and shareholder in Acaster Lloyd Consulting Ltd, which receives fees from the pharmaceutical industry to undertake research projects. Michael Drummond has received fees from several pharmaceutical companies to provide advice on HTA. Karen Facey has received fees from several pharmaceutical companies to provide advice on HTA and patient involvement, and from public bodies to provide facilitation. Thomas Morel is an employee and shareholder of UCB Pharma. Sheela Upadhyaya and Michela Meregaglia do not have any competing interests.

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Nicod, E., Lloyd, A.J., Morel, T. et al. Improving Interpretation of Evidence Relating to Quality of Life in Health Technology Assessments of Rare Disease Treatments. Patient 16, 7–17 (2023). https://doi.org/10.1007/s40271-022-00598-4

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