Fabry disease (FD) is a rare X-chromosome-linked lysosomal storage disorder. Although initial expectations of enzyme replacement therapy (ERT) were high, it is now clear that real-world effectiveness is disappointing and evidence gathering has been inadequate. In retrospect, development of ERT for FD had several shortcomings. Little convincing evidence on the effectiveness existed at time of authorization. Also, post-marketing evaluation failed to generate sufficient and relevant data for adequate evaluation on effectiveness. Adaptive pathways might have benefitted ERT development by: (i) involving healthcare professionals, patients, health technology assessment bodies and payers in the development process; (ii) iterative development, starting with initial authorization in classical males; (iii) a clear real-world data collection plan; (iv) an independent disease registry; and (v) prescription control.

法布里病（FD）是一种罕见的X染色体相关的溶酶体贮积病。尽管最初对酶替代疗法（ERT）的期望很高，但现在很明显，现实世界的效果令人失望，证据收集不足。回想起来，用于FD的ERT的开发存在一些缺陷。授权时几乎没有令人信服的证据。此外，上市后评估未能生成足够和相关的数据来对有效性进行充分评估。适应性途径可能通过以下方式使ERT开发受益：（i）使医疗保健专业人员，患者，健康技术评估机构和付款人参与开发过程；（ii）迭代开发，从经典男性的初始授权开始；（iii）明确的现实世界数据收集计划；（iv）独立的疾病登记处；（v）处方控制。