Esther Noël1, Bertrand Dussol2, Didier Lacombe3, Najya Bedreddine4, Alain Fouilhoux5, Pierre Ronco6, Delphine Genevaz7, Soumeya Bekri8, Albert Hagège9, Frédérique Dupuis-Siméon10, Valérie Derrien Ansquer11, Dominique P Germain12, Olivier Lidove13. 1. Strasbourg University Hospital, Strasbourg, France. esther.noel@chru-strasbourg.fr. 2. Conception Hospital, Marseille, France. 3. Bordeaux University Hospital, INSERM U1211, Bordeaux University, Bordeaux, France. 4. Association des Patients de la Maladie de Fabry (APMF), Marsannay la Côte, France. 5. Lyon University Hospital - Lyon Civil Hospital, Lyon, France. 6. Tenon Hospital, Paris, France. 7. Vaincre les Maladies Lysosomales (VML), Massy, France. 8. Rouen University Hospital, Rouen, France. 9. Georges Pompidou European Hospital, Paris, France. 10. Amicus Therapeutics, La Défense, France. 11. A+A Research, Lyon, France. 12. French Referral Center for Fabry disease, Division of Medical Genetics and INSERM U1179, University of Versailles, Paris-Saclay University, Montigny, France. 13. La Croix St Simon Hospital, Paris, France.
Abstract
BACKGROUND: Fabry 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. RESULTS: Intrinsic 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. CONCLUSION: We believe the PNQ Fabry will be a reliable and insightful tool in clinical practice, to improve patient management in FD.
BACKGROUND:Fabry 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. RESULTS: Intrinsic 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 FDpatients, 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. CONCLUSION: We believe the PNQ Fabry will be a reliable and insightful tool in clinical practice, to improve patient management in FD.
Authors: Alan L Shields; Roger E Lamoureux; Fiona Taylor; Jay A Barth; Andrew E Mulberg; Vivian Kessler; Nina Skuban Journal: Qual Life Res Date: 2021-04-29 Impact factor: 4.147