Ciuca Andrada, Banka Siddharth, Clancy Tara, Jones Simon, Kirkham Jamie J, Newman William G, Payne Katherine, Moldovan Ramona
Department of Psychology, Babeș-Bolyai University, Cluj-Napoca, Romania.
Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester, UK.
J Clin Epidemiol. 2025 Feb;178:111617. doi: 10.1016/j.jclinepi.2024.111617. Epub 2024 Nov 26.
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.
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.
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.
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.
先进治疗药物产品（ATMPs）是基于基因、组织或细胞的药物，可包括基因治疗、体细胞治疗和组织工程药物。患者报告结局（PROs）是直接来自个体的关于健康和幸福的报告，无需外部解读。患者报告结局测量（PROMs）是旨在评估个体对健康及其他心理社会方面的主观体验的问卷。本综述的目的是评估在罕见病ATMP试验中使用的PROs和PROMs的范围和质量。
2024年3月27日检索了英国国家医疗服务体系特殊药房服务前瞻性扫描数据库，以识别所有用于罕见病的ATMPs。如果临床试验方案研究了用于罕见病的ATMPs并发表在临床试验数据库中，则纳入本综述。
共纳入100项试验。这些试验涉及64种疾病。只有37%（37/100）的试验纳入了PROs。总体而言，在这些试验中识别出17种不同类型的PROs。生活质量（QoL）和健康相关生活质量（HRQoL）是最常出现的PROs，分别在18%（18/100）和13%（13/100）的试验中被发现。共识别出33种PROMs。其中，57%（19/33）是HRQoL（89%[17/19]）或QoL（11%[2/19]）测量工具。在识别出的HRQoL测量工具中，71%（12/17）是针对特定疾病的，29%（5/17）是通用的。在非QoL的PROMs中，29%（4/14）旨在测量疼痛，71%（10/14）的PROMs关注其他心理结局，包括焦虑和抑郁。
我们的结果表明，只有37%的罕见病ATMP试验纳入了患者报告结局和测量工具。这凸显了迫切需要相关的PROs/PROMs来衡量益处和危害，并整合现有的PROMs以便在不同疾病或同一疾病内部进行更好的比较。纳入并反映患者的体验至关重要，这样那些有望从研究中受益的人就有机会影响研究方向。
