BACKGROUND Two established scores, the Mainz Severity Score Index (MSSI) and Fabry Disease Severity Scoring System (DS3), quantify the disease burden in Fabry disease (FD), while the recent developed FAbry STabilization indEX (FASTEX) aims to detect disease progression. OBJECTIVE MSSI, DS3 and FASTEX were compared to evaluate disease stability or progression in a prospective cohort of Fabry patients under enzyme replacement therapy (ERT). METHODS Disease load of 62 patients (28 [45%] females) treated with ERT (26 [42%] under agalsidase-alfa) was assessed using the current scores and re-assessed after 12 months of treatment. Fifteen (24%) patients were ERT-naïve at baseline. RESULTS All scores showed a correlation with each other, while MSSI and DS3 showed the strongest (Pearson r: 0.81, p < .0001). Plasma lyso-Gb3 levels in naïve patients correlated with increasing DS3 and MSSI scores (Pearson r: 0.60, p < .05; Pearson r: 0.64, p < .01; respectively), but not with the total weighted FASTEX score. Longitudinal analysis suggested a stable disease course using DS3 and MSSI. Only males long-term-treated with agalsidase-alfa presented with a slight increase of the general MSSI score (p = .0084). By contrast, the FASTEX score demonstrates that only 21 patients (33.9%) were stable, all other patients presented a disease progression. Patients with an unstable FASTEX mainly suffered from a significant loss of renal function (eGFRcreat: -2.7 ± 7.3 ml/min/1.73 m2, p = .0298). CONCLUSION We conclude that the FASTEX seems to be a simple and user friendly, valuable tool to assess early changes in disease progression even in smaller patient cohorts and short term surveillance.

中文翻译：

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FAbry稳定指数（FASTEX）：法布里（Fabry）患者疾病进展的临床评估。

背景技术两个既定的分数，即Mainz严重度评分指数（MSSI）和Fabry疾病严重度评分系统（DS3），量化了Fabry疾病（FD）的疾病负担，而最近开发的FAbry STabilization indEX（FASTEX）旨在检测疾病进展。比较了目标MSSI，DS3和FASTEX，以评估在接受酶替代疗法（ERT）的前瞻性法布里（Fabry）患者队列中的疾病稳定性或进展。方法使用当前评分评估62例接受ERT治疗（28例[45％]女性）的疾病（28例[45％]女性，在阿加糖酶-alfa下为26例[42％]），并在治疗12个月后重新评估。基线时有15名（24％）患者未进行过ERT评估。结果所有得分之间均具有相关性，而MSSI和DS3得分最高（Pearson r：0.81，p <.0001）。初治患者的血浆溶血Gb3水平与DS3和MSSI评分增加相关（Pearson r：0.60，p <.05； Pearson r：0.64，p <.01；），但与总加权FASTEX评分无关。纵向分析表明使用DS3和MSSI可以稳定病程。只有长期用阿糖苷酶-α治疗的男性患者的总体MSSI评分略有增加（p = .0084）。相比之下，FASTEX评分表明只有21例患者（33.9％）是稳定的，其他所有患者均呈疾病进展状态。FASTEX不稳定的患者主要患有肾功能显着丧失（eGFRcreat：-2.7±7.3 ml / min / 1.73 m2，p = .0298）。结论我们得出的结论是FASTEX似乎是一种简单易用的用户界面，