ArticleOrphanet journal of rare diseases2019
Treatment needs and expectations for Fabry disease in France: development of a new Patient Needs Questionnaire.
Article in Orphanet journal of rare diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 7 citations in OpenAlex.
- Development and validation of a self-management efficacy questionnaire for patients with Fabry disease in China.Annals of medicine · 2026Article
- Patient-Centric Approach to Improve the Quality of Life and Healing Efficacy for Patients With Fabry Disease: A Grounded Theory-Based Analysis.Journal of Korean medical science · 2026Article
- Treatment-related benefit and satisfaction in patients with Fabry disease in France: insight into patients' expectations and preferences from the prospective, non-interventional SATIS-Fab study.Orphanet journal of rare diseases · 2026Article
- Development of the Fabry Disease Patient-Reported Outcome (FD-PRO): a new instrument to measure the symptoms and impacts of Fabry Disease.Orphanet journal of rare diseases · 2021Article
Corrections and comments
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Authors and funding
13 authors at 12 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFabry disease (FD) is a rare, X-linked, inherited lysosomal disease caused by absent or reduced α-galactosidase A activity. Due to the heterogeneity of disease presentation and progression, generic patient-reported outcome (PRO) tools do not provide accurate insight into patients' daily lives and impact of disease specific treatments. Also, the French National Health Authority, (HAS) actively encourages a patient-centric approach to improve the quality of care throughout the patient journey. In response to this initiative, we aimed to develop and validate a specific, self-reported, Patient Needs Questionnaire for people living with Fabry disease to appraise patient needs and expectations towards their treatment (PNQ Fabry). This endeavour was led with the help of French patient associations (APMF & VML) and dedicated expert centres. PNQ Fabry was developed according to the FDA/EMA methodologies and best practices for the development of PRO tools in rare diseases. Our approach comprised of three steps, as follows: concept elicitation and item generation, item reduction, and final validation of the questionnaire through a two-stage survey.
resultsIntrinsic and extrinsic reliability was established, using a validated benchmark questionnaire. With the invaluable help of patient associations, we recruited a satisfactory population in this rare disease setting, to ensure robust participation to validate our PNQ (final number of questionnaires: 76). At the end of the process, a 26-item patient-reported questionnaire was obtained with excellent psychometric properties, exhibiting very satisfactory measurement outcomes for reliability and validity. The results of this initiative demonstrate that the PNQ Fabry is accurate, suitable and tailored to FD patients, as it addresses themes identified during patient interviews, that were further validated through statistical analyses of quantitative surveys. An ongoing phase IV study is using this tool.
conclusionWe believe the PNQ Fabry will be a reliable and insightful tool in clinical practice, to improve patient management in FD.
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