Patient-reported outcomes and measures are under-utilised in advanced therapy medicinal products trials for orphan conditions.

Objectives: Advanced therapy medicinal products (ATMPs) are medicines based on genes, tissues, or cells and can include gene therapy, somatic-cell therapy, and tissue-engineered medicines. Patient-reported outcomes (PROs) are reports on health and well-being that come directly from the individual without external interpretation. Patient-reported outcome measures (PROMs) are questionnaires aimed at assessing the individual and subjective experience with health and other psychosocial aspects. The aim of the present review is to assess the extent and quality of PROs and PROMs used in orphan ATMP trials.

Study Design And Setting: The database from National Health Service Special Pharmacy Service horizon scanning was searched on 27 March 2024 to identify all ATMPs for orphan conditions. Clinical trial protocols were included in this review if they investigated ATMPs for orphan conditions and were published in clinical trial databases.

Results: A total of 100 trials were included. These accounted for 64 conditions. Only 37% (37/100) of the trials included PROs. Overall, 17 different types of PROs were identified across the trials. Quality of life (QoL) and health-related quality of life (HRQoL) were the most frequent PROs found in 18% (18/100) and 13% (13/100) of the trials, respectively. A total of 33 PROMs were identified. Of these, 57% (19/33) were HRQoL (89% [17/19]) or QoL (11% [2/19]) measures. Of the HRQoL measures identified, 71% (12/17) were disease specific and 29% (5/17) were generic. Of the non-QoL PROMs, 29% (4/14) were designed to measure pain and 71% (10/14) PROMs focused on other psychological outcomes, including anxiety and depression.

Conclusion: Our results show that only 37% of the orphan ATMP trials include patient-reported outcomes and measures. This highlights the urgent need for relevant PROs/PROMs that capture benefits and harms and assimilation of existing PROMs for better comparison between or within conditions. It is essential to include and reflect the patients' experience so that those intended to benefit from the research have the opportunity to influence its direction.