Department of Neurology, University of Rochester Medical Center, 601 Elmwood Avenue, Box #631, Rochester, NY, 14642, USA,
Curr Treat Options Neurol. 2013 Oct;15(5):634-51. doi: 10.1007/s11940-013-0256-3.
In the past 15 years, for select lysosomal storage diseases, there has been a shift from symptom management to disease modification in terms of treatment strategy, mainly related to use of enzyme replacement therapy (ERT). Yet the application of ERT is for very few diseases, and while beneficial, ERT does not represent a cure. For some disorders, the advent of ERT has made a dramatic impact, while for others, benefits have been much more modest. Understanding of the long-term effects as well as the appropriate time for initiation of ERT is under exploration in a number of diseases, while the feasibility of ERT is still being established for others. No definite effects of ERT on central nervous system manifestations of lysosomal storage diseases have been observed for any disease to date. New strategies, including intrathecal enzyme replacement, gene therapy and substrate reduction therapy are being developed in animal models and clinical trials, which hopefully will begin a new era of nervous system disease modification in neuronal storage disorders.
在过去的 15 年中，在选择溶酶体贮积症方面，治疗策略已经从症状管理转向疾病修饰，主要与酶替代疗法（ERT）的应用有关。然而，ERT 的应用非常有限，而且尽管有益，但 ERT 并不代表治愈。对于某些疾病，ERT 的出现产生了巨大的影响，而对于其他疾病，其益处则要小得多。在许多疾病中，人们正在探索 ERT 的长期效果以及开始 ERT 的适当时间，而对于其他疾病，ERT 的可行性仍在研究中。迄今为止，尚无任何疾病观察到 ERT 对溶酶体贮积症中枢神经系统表现的明确影响。新的策略，包括鞘内酶替代、基因治疗和底物减少治疗，正在动物模型和临床试验中开发，有望开启神经储存障碍的神经系统疾病修饰的新时代。
