The treatment options for Fabry disease (FD) are enzyme replacement therapy (ERT) with agalsidase alfa or beta, and the oral pharmacological chaperone migalastat. Since few data are available on the effects of switching from ERT to migalastat, we performed a single-center observational study on seven male Fabry patients (18–66 years) to assess the effects of the switch on renal, cardiac, and neurologic function, health status, pain, lyso-Gb3, α-Gal A activity and adverse effects. Data were retrospectively collected at time of diagnosis of FD (baseline, T0), and after 12 months of ERT (T1), and prospectively after 1 year of therapy with migalastat (T2). No patient died or reported renal, cardiac, or cerebrovascular events during the study period. The predefined measures for cardiac, renal and neurologic function, and FD-related symptoms and questionnaires were stable between baseline and the switch, and remained unchanged with migalastat. However, a significant improvement was observed in left ventricular mass index from baseline to T2 (p = 0.016), with a significative difference between the treatments (p = 0.028), and in median proteinuria from T2 vs T1 (p = 0.048). Moreover, scores of the BPI improved from baseline to T1, and remained stable with migalastat. Plasma lyso-Gb3 levels significantly decreased from baseline to T1 (P = 0.007) and T2 (P = 0.003), while did not significantly differ between the two treatments. α-Gal A activity increased from T0 to T2 (p < 0.0001). The frequency of adverse effects under migalastat and ERT was comparable (28% for both drugs). In conclusion, switching from ERT to migalastat is valid, safe and well tolerated.

法布里病（FD）的治疗选择是使用阿糖苷酶α或β的酶替代疗法（ERT）以及口服药理伴侣米加司他。由于从ERT转换为migalastat的影响的数据很少，因此我们对7名法布里（Fabry）男性患者（18-66岁）进行了单中心观察性研究，以评估这种转换对肾，心脏和神经功能的影响，健康状况，疼痛，lyso-Gb3，α-GalA活性和不良反应。在诊断为FD时（基线，T0），在ERT的12个月后（T1）以及在使用米加司他治疗1年后（T2）进行回顾性收集数据。在研究期间，没有患者死亡或报告肾脏，心脏或脑血管事件。针对心脏，肾脏和神经系统功能的预定措施，与FD相关的症状和问卷在基线和转换之间是稳定的，而米格列他不变。但是，从基线到T2，左心室质量指数显着改善（p  = 0.016），治疗之间的差异显着（p  = 0.028），以及T2 vs T1的中位数蛋白尿（p  = 0.048）。此外，BPI的分数从基线提高到T1，并且在米加司他的情况下保持稳定。血浆溶血Gb3水平从基线水平显着降低至T1（P  = 0.007）和T2（P  = 0.003），而两种治疗之间没有显着差异。α-GalA活性从T0增加到T2（p  <0.0001）。migalastat和ERT引起的不良反应发生频率相当（两种药物均为28％）。总之，从ERT到migalastat的转换是有效，安全且耐受性良好的。