Development of a patient-reported outcome questionnaire for aplastic anemia and paroxysmal nocturnal hemoglobinuria (PRO-AA/PNH)

Abstract

Background: The introduction of new therapy modalities has significantly improved the outcome of aplastic anemia (AA) and paroxysmal nocturnal hemoglobinuria (PNH) patients. However, relatively little is known about the exact disease burden of AA/PNH since standardized assessments of symptoms including health-related quality of life (HRQoL) are frequently missing or inadequately designed for this rare patient group. We aimed to develop AA/PNH-specific questionnaires for self-reporting of symptoms, which could be included in electronic platforms for data collection and patient care. Methods: By scoping review, we extracted any reported symptoms in AA/PNH and their prevalence from the literature (Phase I). Consensus rounds with patients and medical experts were conducted to identify core symptoms reported in the literature and to add missing items (Phase II). Ultimately, AA/PNH-specific patient-reported outcome (PRO) questionnaires including the selected measures were designed (Phase III). Results: AA symptoms from 62 and PNH symptoms from 45 observational studies were extracted from the literature. Twenty-four patients and seven medical experts identified 11 core symptoms including HRQoL issues after three consensus rounds. Significant differences in the symptom ranking of patients versus medical experts could be observed. Therefore, patient- as well as expert-centered PRO questionnaires in AA and PNH were created following the concepts of validated instruments.Conclusion: The development of symptom self-reporting questionnaires for AA and PNH was feasible and the disease-specific PRO questionnaires can now be validated within a web-based workflow in a subsequent feasibility study.

Feasibility of electronic patient-reported outcome monitoring with self-management advice and warning system in aplastic anemia and paroxysmal nocturnal hemoglobinuria – a pilot study (ePRO-AA-PNH)

“…Although this feasibility study was not designed to assess the frequency of reported symptoms of AA/PNH patients, and therefore these results should be interpreted with caution, we still can make out interesting observations. Using our recently developed PRO questionnaire (26) it was possible to detect less known symptoms in this disease entity (e.g. concentration problems), which could point towards an underestimation of these symptoms in AA/PNH and opens a window for future research.…”

“…The ePRO system incorporated a prede ned algorithm to stratify patient-reported symptoms in real-time into minor, moderate and severe symptoms (26), each resulting in different actions (Tables 1 and 4, Fig. 4): In case of minor or moderate symptoms, patients would automatically receive selfmanagement advice.…”