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.
Highlights
Caring for people with Fabry Disease (FD) requires careful, lifelong monitoring to manage the multisymptomatic effects of the disease
The objective of this research was to develop and validate a specific, self-reported, Patient Needs Questionnaire (PNQ) for people living with Fabry disease to evaluate patient treatment expectations (PNQ Fabry)
Results demonstrated the PNQ Fabry is highly reliable: Deviations between scores obtained in both rounds calculated for each item and per individual showed excellent similarity with 72.7% of identical ratings between test and retest rounds (Table 3) and 91% only deviated one point above or below (Table 4)
Summary
Caring for people with Fabry Disease (FD) requires careful, lifelong monitoring to manage the multisymptomatic effects of the disease These patients live with chronic cardiac, renal and neurological problems that reduce life expectancy and require substantial supportive therapy. The objective is to improve the safety and quality of care by combining the patient experience with evidencebased care This process provides an environment where patients are encouraged to share their preferences and take an active role in their treatment, and disease management decisions. 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). 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
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