Held during the HTAi 2023 Annual Meeting in Adelaide, Australia, the panel session titled “Rare Disorders – Is the Lack of Effect in a Patient-Reported Outcome, Reflecting no Benefit?” reviewed the importance of measuring quality of life in rare diseases, and the potential and challenges of using patient-reported outcomes (PROs).
In chronic, rare diseases, measuring the impact of the condition, and of treatments, on quality of life is important. But, measuring quality of life is difficult in these small populations, that have heterogenous presentations of disease and response to treatment and are often occur in young children. So, patient-centred research is needed to develop robust, specific measures of the impact of a specific condition (and a treatment) on patient, carers and families, including consideration of how digital technologies could continuously capture quality of life impacts. Dialogues are needed between Health Technology Developers and HTA bodies to discuss the rationale for choice of approach for measuring quality of life, any challenges in evaluation of outcomes, and complementary sources of evidence (such as patient-based evidence from qualitative research)
The report of the HTAi 2023 Panel on Use of PROs in Rare Diseases is available to view below, or via pdf here (file size 1 MB).