ReviewOrphanet journal of rare diseases2020
Development of a patient-reported outcome questionnaire for aplastic anemia and paroxysmal nocturnal hemoglobinuria (PRO-AA/PNH).
Review in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- Self-reported perspective in rare genetic diseases: a systematic review of patient-reported outcome measures classified using the international classification of functioning, disability and health framework.Journal of patient-reported outcomes · 2026Pooled it
- Patient-reported improvements in paroxysmal nocturnal hemoglobinuria treated with iptacopan from 2 phase 3 studies.Blood advances · 2025Trial
- Predictors for improvement in patient-reported outcomes: post hoc analysis of a phase 3 randomized, open-label study of eculizumab and ravulizumab in complement inhibitor-naive patients with paroxysmal nocturnal hemoglobinuria.Annals of hematology · 2024Trial
- Physician and Patient Perception of Disease, Symptomatology, and Treatment Administration Preference in Paroxysmal Nocturnal Haemoglobinuria: Results from a Real-World Survey.Advances in therapy · 2026Article
- PNH extravascular hemolysis: exploring clinical significance.Blood advances · 2026Article
- Mapping Health State Utility from Disease-Specific Measures in Spinal Muscular Atrophy and Paroxysmal Nocturnal Hemoglobinuria.PharmacoEconomics · 2026Article
- Real-World Study of US Adults with Paroxysmal Nocturnal Hemoglobinuria Treated with Pegcetacoplan.Hematology reports · 2024Article
- Experience of life quality from patients with aplastic anemia: a descriptive qualitative study.Orphanet journal of rare diseases · 2023Article
- Decision analysis of allogeneic bone marrow transplantation versus immunosuppressive therapy for young adult patients with aplastic anemia.International journal of hematology · 2023Article
- Core set of patient-reported outcomes for myelodysplastic syndromes: an EUMDS Delphi study involving patients and hematologists.Blood advances · 2022Article
- A novel patient-reported outcome instrument assessing the symptoms of paroxysmal nocturnal hemoglobinuria, the PNH-SQ.Journal of patient-reported outcomes · 2021Article
Corrections and comments
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Authors and funding
15 authors at 4 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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