Nicod Elena, Meregaglia Michela, Whittal Amanda, Upadhyaya Sheela, Facey Karen, Drummond Michael
Research Centre on Health and Social Care Management (CERGAS), SDA Bocconi School of Management, Via Sarfatti 10, 20136, Milan, Italy.
National Institute for Health and Care Excellence, London, UK.
Eur J Health Econ. 2022 Jun;23(4):645-669. doi: 10.1007/s10198-021-01387-w. Epub 2021 Oct 29.
Challenges with patient-reported outcome (PRO) evidence and health state utility values (HSUVs) in rare diseases exist due to small, heterogeneous populations, lack of disease knowledge and early onset. To better incorporate quality of life (QoL) into Health Technology Assessment, a clearer understanding of these challenges is needed.
NICE appraisals of non-oncology treatments with an EMA orphan designation (n = 24), and corresponding appraisals in the Netherlands, France, and Germany were included. Document analysis of appraisal reports investigated how PROs/HSUVs influenced decision-making and was representative of QoL impact of condition and treatment.
PRO evidence was not included in 6/24 NICE appraisals. When included, it either failed to demonstrate change, capture domains important for patients, or was uncertain. In the other countries, little information was reported and evidence largely did not demonstrate change. In NICE appraisals, HSUVs were derived through the collection of EQ-5D data (7/24 cases), mapping (6/24), vignettes (5/24), and published literature or other techniques (6/24). The majority did not use data collected alongside clinical trials. Few measures demonstrated significant change due to lack of sensitivity or face validity, short-term data, or implausible health states. In 8/24 NICE appraisals, patient surveys or input during appraisal committee meetings supported the interpretation of uncertainty or provided evidence about QoL.
This study sheds light on the nature of PRO evidence in rare diseases and associated challenges. Results emphasise the need for improved development and use of PRO/HSUVs. Other forms of evidence and expert input are crucial to support better appraisal of uncertain or missing evidence.
由于患者群体规模小、异质性大、缺乏疾病知识以及疾病早期发病，罕见病患者报告结局（PRO）证据和健康状态效用值（HSUV）面临挑战。为了更好地将生活质量（QoL）纳入卫生技术评估，需要更清楚地了解这些挑战。
纳入了英国国家卫生与临床优化研究所（NICE）对获得欧洲药品管理局（EMA）孤儿药指定的非肿瘤治疗的评估（n = 24），以及荷兰、法国和德国的相应评估。对评估报告进行文献分析，调查PRO/HSUV如何影响决策，以及是否代表疾病和治疗对生活质量的影响。
在24项NICE评估中，有6项未纳入PRO证据。当纳入时，它要么未能证明变化、涵盖对患者重要的领域，要么存在不确定性。在其他国家，报告的信息很少，证据大多未能证明变化。在NICE评估中，HSUV通过收集EQ - 5D数据（7/24例）、映射（6/24）、 vignettes（5/24）以及已发表的文献或其他技术（6/24）得出。大多数未使用临床试验期间收集的数据。由于缺乏敏感性或表面效度、短期数据或不合理的健康状态，很少有测量显示出显著变化。在24项NICE评估中的8项中，患者调查或评估委员会会议期间的意见支持了对不确定性的解释或提供了有关生活质量的证据。
本研究揭示了罕见病中PRO证据的性质及相关挑战。结果强调了改进PRO/HSUV开发和使用的必要性。其他形式的证据和专家意见对于支持更好地评估不确定或缺失的证据至关重要。
