Measuring the Patient Experience in Rare Disorders: Benefit of Pragmatic Mixed-Methods Research in NUT Carcinoma

Introduction 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. Methods 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. Results This study highlights the challenges in implementing patient-centric research to inform and develop PRO measures in rare diseases. Conclusions 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.