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

Orphanet Journal of Rare Diseases

Anne Leuppi-Taegtmeyer¹  Maria Martinez²  Birgit Maier³  Sandra Schönfeld⁴  Jörg Halter⁴  Sabine Gerull⁴  Andre Tichelli⁴  Beatrice Drexler⁴  Kimmo Weisshaar⁴  Jakob Passweg⁴  Yuliya Senft⁴  Antonio Risitano⁵  Nina Khanna⁶  Regis Peffault de Latour⁷  Hannah Ewald⁸ 

[1] Department of Clinical Pharmacology and Toxicology, University and University Hospital Basel, 4051, Basel, Switzerland;Department of Diagnostic Hematology, University of Basel, 4051, Basel, Switzerland;Department of Psychosomatic Medicine, University Hospital Basel, 4031, Basel, Switzerland;Division of Hematology, University Hospital Basel, 4031, Basel, Switzerland;Hematology, Department of Clinical Medicine and Surgery, Federico II University of Naples, Naples, Italy;Severe Aplastic Anemia Working Party of the European Group for Blood and Marrow Transplantation, Leiden, Netherlands;Infectious Diseases and Hospital Epidemiology, University Hospital Basel, 4031, Basel, Switzerland;Severe Aplastic Anemia Working Party of the European Group for Blood and Marrow Transplantation, Leiden, Netherlands;French Reference Center for Aplastic Anemia and Paroxysmal Nocturnal Hemoglobinuria, Saint Louis Hospital and University Paris Diderot, Paris, France;University Medical Library, University of Basel, 4051, Basel, Switzerland;Basel Institute for Clinical Epidemiology and Biostatistics, Department of Clinical Research, University Hospital Basel, 4031, Basel, Switzerland;

关键词: Aplastic anemia;    Paroxysmal nocturnal hemoglobinuria;    Patient-reported outcome;    Quality of life;    Symptom;   

DOI  :  10.1186/s13023-020-01532-3

来源: Springer

【 摘 要 】

BackgroundThe 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.MethodsBy 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).ResultsAA 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.ConclusionThe 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.

【 授权许可】

CC BY