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Consideration of quality of life in the health technology assessments of rare disease treatments

Elena Nicod, Michela Meregaglia, Amanda Whittal, Sheela Upadhyaya, Karen Facey, Michael Drummond
September 2021

Using patient-reported outcome (PRO) data for rare diseases is challenging because of the small populations and lack of disease knowledge, yet it can provide invaluable understanding about the impact on quality of life (QoL) of these severe diseases when assessing new treatments. To better incorporate QoL into Health Technology Assessment, a clearer understanding of the challenges faced by PRO evidence and health state utility values (HSUVs) in rare diseases is required. Document analysis of NICE appraisal reports of non-oncology treatments with EMA orphan designation was conducted, as well as corresponding output from the Netherlands, France and Germany. Overall, findings suggest that a large proportion of the PRO evidence and HSUVs appraised are either not considered during HTA, or provide inconclusive and uncertain outcomes. Results suggest that lack of QoL evidence doesn’t mean no benefit in QoL. To overcome this, the authors emphasise that patient and clinical expert input are key to help interpret and complement this uncertain and incomplete QoL evidence, and for improved development of QoL evidence.