Intracerebroventricular enzyme replacement therapy (ICV-ERT) for CLN2 disease represents the first approved treatment for neuronal ceroid lipofuscinosis (NCL) diseases. It is the first treatment where a recombinant lysosomal enzyme, cerliponase alfa, is administered into the lateral cerebral ventricles to reach the central nervous system, the organ affected in CLN2 disease. If untreated, CLN2 children show first symptoms such as epilepsy and language developmental delay at 2-4 years followed by rapid loss of motor and language function, vision loss, and early death. Treatment with cerliponase alfa has shown to slow the rapid neurologic decline. However, the mode of administration by 4 hour-long intracerebroventricular infusions every 14 days represents a potentially greater risk of infection compared to intravenous enzyme replacement therapies. The Hamburg NCL Specialty Clinic was the first site worldwide to perform intracerebroventricular enzyme replacement therapy in children with CLN2 disease. In order to ensure maximum patient safety, we analysed data from our center from more than 3000 intracerebroventricular enzyme replacement therapies in 48 patients over 6 years with regard to the occurrence of device-related adverse events and device infections. Since starting intracerebroventricular enzyme replacement therapy, we have also developed and continuously improved the “Hamburg Best Practice Guidelines for ICV–Enzyme Replacement Therapy (ERT) in CLN2 Disease.” Results from this study showed low rates for device-related adverse events and infections with 0.27% and 0.33%, respectively. Therefore, following our internal procedural guidelines has shown to improve standardization and patient safety of intracerebroventricular enzyme replacement therapy for CLN2 disease.

CLN2 疾病的脑室内酶替代疗法 (ICV-ERT) 代表了第一个获批的神经元蜡样脂褐质沉着症 (NCL) 疾病的治疗方法。这是第一种将重组溶酶体酶 cerliponase alfa 注入侧脑室以到达中枢神经系统的治疗方法，该器官受 CLN2 疾病影响。如果不治疗，CLN2 儿童在 2-4 岁时首先出现癫痫和语言发育迟缓等症状，随后迅速丧失运动和语言功能、视力丧失和早逝。用cerliponase alfa治疗已显示减缓神经功能的快速衰退。然而，与静脉内酶替代疗法相比，每 14 天进行 4 小时脑室内输注的给药方式可能存在更大的感染风险。汉堡 NCL 专科诊所是全球第一个对患有 CLN2 疾病的儿童进行脑室内酶替代治疗的场所。为了确保最大程度地确保患者安全，我们分析了来自我们中心的数据，这些数据来自 6 年内 48 名患者的 3000 多例脑室内酶替代疗法，以了解与器械相关的不良事件和器械感染的发生情况。自开始脑室内酶替代疗法以来，我们还制定并不断完善《汉堡 CLN2 病 ICV 酶替代疗法 (ERT) 最佳实践指南》。该研究的结果显示，与设备相关的不良事件和感染发生率较低，分别为 0.27% 和 0.33%。所以，