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.

中文翻译：

---

法国法布里病的治疗需求和期望：开发新的患者需求调查表。

背景技术法布里病（FD）是由缺乏或降低的α-半乳糖苷酶A活性引起的罕见的，X连锁的，遗传的溶酶体疾病。由于疾病表现和进展的异质性，通用的患者报告结局（PRO）工具无法准确了解患者的日常生活和疾病特异性治疗的影响。此外，法国国家卫生局（HAS）积极鼓励以患者为中心的方法，以提高患者整个旅程的护理质量。为了响应这一倡议，我们旨在为患有法布里疾病的人开发并验证一份具体的，自我报告的患者需求调查表，以评估患者对治疗的需求和期望（PNQ Fabry）。在法国患者协会（APMF＆VML）和专门的专家中心。PNQ Fabry是根据FDA / EMA方法和最佳实践开发的，用于开发稀有疾病中的PRO工具。我们的方法包括以下三个步骤：概念启发和项目生成，项目减少以及通过两阶段调查对问卷进行最终验证。结果使用经过验证的基准问卷，建立了内部和外部可靠性。在患者协会的宝贵帮助下，我们在这种罕见的疾病环境中招募了令人满意的人群，以确保强大的参与度来验证我们的PNQ（问卷的最终数量：76）。在该过程的最后，获得了一份由患者报告的26个项目的问卷，这些问卷具有出色的心理测量特性，在信度和效度方面显示出非常令人满意的测量结果。该计划的结果表明，PNQ Fabry可以准确，适合并适合FD患者，因为它解决了患者访谈中确定的主题，并通过定量调查的统计分析进一步验证了这些主题。正在进行的第四阶段研究正在使用此工具。结论我们相信PNQ Fabry将成为临床实践中可靠和有见地的工具，以改善FD患者的管理。