Ciesluk Anna, Voorhaar Maarten, Barrett Louise, Baldasaro Jessica, Griebsch Ingolf, Marquis Patrick
Division of THREAD, Modus Outcomes, Cambridge, MA, USA.
Boehringer Ingelheim, International GmbH, Ingelheim, Germany.
Oncol Ther. 2022 Jun;10(1):263-277. doi: 10.1007/s40487-022-00192-6. Epub 2022 Mar 17.
Patient-centered outcome measurement (PCOM) is essential to capture the outcomes important to patients. However, it presents unique challenges in rare diseases, particularly those that are "young" (not diagnosed before the twenty-first century), with limited literature, lack of disease-specific patient-reported outcome (PRO) measures, and difficult sampling and data collection. One example of this is NUT (nuclear protein in testis) carcinoma (NUTca), a rare and rapidly progressing cancer, with tumors preliminary in the head, neck, and lungs. The published literature on NUTca is scarce. The limited number of case reports focus primarily on the clinical development and presentation of tumors. Currently, there are no publications describing the patient experience of NUTca and no specific PRO measures to assess the patient experience. We conducted mixed-methods research, including concept elicitation interviews, cognitive debriefing, and quantitative data analyses, to fill this evidence gap and describe challenges and solutions in the context of NUTca.
As published previously, our conceptualization of NUTca was based on elicitation interviews with 27 participants (n = 10 patients; n = 17 caregivers) using a semi-structured format; this framework formed the basis for a bolt-on strategy to develop a bespoke PRO measure based on the EORTC QLQ-C30, supplemented by targeted items from the EORTC Item Library and new items. In this publication, 20 participants were interviewed (n = 10 patients; n = 10 caregivers) to debrief items. Given the variety of tumor locations and related symptoms, and the small sample of patients providing responses to location-specific symptom items, we used response option endorsement frequencies to illuminate the variability of response for the concepts measured.
This study highlights the challenges in implementing patient-centric research to inform and develop PRO measures in rare diseases.
Our mixed-methods research used pragmatic solutions to collect patient experience data and provides an evidence base to inform PCOM in clinical programs in this rapidly progressing rare cancer with high unmet need.
以患者为中心的结局测量（PCOM）对于获取对患者重要的结局至关重要。然而，它在罕见病中带来了独特的挑战，尤其是那些“年轻”的罕见病（21世纪之前未被诊断），相关文献有限，缺乏针对特定疾病的患者报告结局（PRO）测量方法，且抽样和数据收集困难。睾丸核蛋白（NUT）癌（NUTca）就是一个例子，它是一种罕见且进展迅速的癌症，肿瘤主要发生在头颈部和肺部。关于NUTca的已发表文献很少。有限的病例报告主要集中在肿瘤的临床发展和表现。目前，没有出版物描述NUTca患者的经历，也没有评估患者经历的特定PRO测量方法。我们进行了混合方法研究，包括概念引出访谈、认知反馈和定量数据分析，以填补这一证据空白，并描述NUTca背景下的挑战和解决方案。
如先前发表的那样，我们对NUTca的概念化基于对27名参与者（n = 10名患者；n = 17名护理人员）进行的引出访谈，采用半结构化形式；该框架构成了基于欧洲癌症研究与治疗组织核心问卷（EORTC QLQ-C30）开发定制PRO测量方法的附加策略的基础，并辅以EORTC项目库中的针对性项目和新项目。在本出版物中，对20名参与者（n = 10名患者；n = 10名护理人员）进行了访谈以对项目进行反馈。鉴于肿瘤位置和相关症状的多样性，以及对特定位置症状项目做出回应的患者样本较小，我们使用反应选项认可频率来阐明所测量概念的反应变异性。
本研究突出了在罕见病中开展以患者为中心的研究以提供信息并开发PRO测量方法所面临的挑战。
我们的混合方法研究采用了务实的解决方案来收集患者体验数据，并为在这种需求未得到满足程度高且进展迅速的罕见癌症的临床项目中为PCOM提供信息提供了证据基础。
