Department of Medicine, Division of Nephrology, University Hospital of Würzburg, Würzburg, Germany.
Jiménez Díaz Foundation University Hospital and IIS-Fundación Jiménez Díaz UAM, Madrid, Spain; Department of Medicine, Universidad Autónoma de Madrid, Madrid, Spain.
Mol Genet Metab. 2023 Jul;139(3):107603. doi: 10.1016/j.ymgme.2023.107603. Epub 2023 Apr 29.
Fabry disease (FD, α-galactosidase A deficiency) is a rare, progressive, complex lysosomal storage disorder affecting multiple organ systems with a diverse spectrum of clinical phenotypes, particularly among female patients. Knowledge of its clinical course was still limited in 2001 when FD-specific therapies first became available and the Fabry Registry (NCT00196742; sponsor: Sanofi) was initiated as a global observational study. The Fabry Registry has now been operational for over 20 years, overseen by expert Boards of Advisors, and has collected real-world demographic and longitudinal clinical data from more than 8000 individuals with FD. Leveraging the accumulating evidence base, multidisciplinary collaborations have resulted in the creation of 32 peer-reviewed scientific publications, which have contributed to the greatly expanded knowledge on the onset and progression of FD, its clinical management, the role of sex and genetics, the outcomes of enzyme replacement therapy with agalsidase beta, and prognostic factors. We review how the Fabry Registry has evolved from its inception to become the largest global source of real-world FD patient data, and how the generated scientific evidence has helped to better inform the medical community, individuals living with FD, patient organizations, and other stakeholders. The patient-centered Fabry Registry fosters collaborative research partnerships with the overarching goal of optimizing the clinical management of patients with FD and is well positioned to add to its past achievements.
法布瑞病（FD，α-半乳糖苷酶 A 缺乏症）是一种罕见的、进行性的、复杂的溶酶体贮积病，影响多个器官系统，具有广泛的临床表型，尤其是在女性患者中。2001 年首次出现 FD 特异性治疗药物时，人们对其临床病程的了解仍然有限，当时启动了 Fabry 登记处（NCT00196742；发起方：赛诺菲）作为一项全球观察性研究。Fabry 登记处已经运营了 20 多年，由专家顾问委员会监督，从 8000 多名 FD 患者那里收集了真实世界的人口统计学和纵向临床数据。利用不断积累的证据基础，多学科合作促成了 32 篇经过同行评审的科学出版物的诞生，这些出版物极大地扩展了 FD 的发病和进展、临床管理、性别和遗传作用、β-半乳糖苷酶替代治疗的结果以及预后因素的知识。我们回顾了 Fabry 登记处从成立到成为全球最大的真实 FD 患者数据来源的发展历程，以及所产生的科学证据如何帮助更好地为医学界、FD 患者、患者组织和其他利益相关者提供信息。以患者为中心的 Fabry 登记处促进了合作研究伙伴关系，其总体目标是优化 FD 患者的临床管理，并为过去的成就增砖添瓦。
