Niemann–Pick type C (NPC) is a rare lysosomal storage disease characterized by hepatosplenomegaly and progressive neurological deterioration due to abnormal intracellular cholesterol transport. Cyclic oligosaccharide 2-hydroxypropyl-β-cyclodextrin (HPBCD) is an effective treatment for NPC; however, few reports have shown its long-term efficacy and safety. To demonstrate long-term efficacy and safety of intrathecal HPBCD (IT-HPBCD) treatment for NPC, we herein reports five patients with NPC treated using IT-HPBCD for 4–11 years. Patients’ ages at the onset ranged from 1.5 to 20 years. Notably, all patients showed rapid disease progression despite treatment with miglustat before IT-HPBCD treatment. Similarly, some patients showed transient improvement; however, all patients’ conditions stabilized after long-term IT-HPBCD therapy. Mild-to-moderate hearing loss was observed in three patients. Furthermore, long-term treatment with IT-HPBCD may suppress neurological deterioration in patients with NPC; however, patients still experience some disease progression. Long-term treatment with IT-HPBCD may suppress neurological deterioration in patients with NPC; however, the treatment outcome is dependent on the neurological status at the time of diagnosis, and disease progression is not completely inhibited. Awareness of the disease and newborn screening is needed for earlier disease detection. In addition, further optimization of the treatment protocol and additional treatments are needed to improve patient outcomes.

中文翻译：

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鞘内注射环糊精治疗 C 型尼曼-皮克病患者的长期疗效

C 型尼曼-匹克 (NPC) 是一种罕见的溶酶体贮积病，其特征是由于细胞内胆固醇转运异常导致肝脾肿大和进行性神经功能恶化。环状低聚糖2-羟丙基-β-环糊精（HPBCD）是治疗鼻咽癌的有效药物；然而，很少有报告显示其长期功效和安全性。为了证明鞘内 HPBCD (IT-HPBCD) 治疗鼻咽癌的长期疗效和安全性，我们在此报告了 5 名鼻咽癌患者使用 IT-HPBCD 治疗 4-11 年。患者发病年龄为1.5至20岁。值得注意的是，尽管在 IT-HPBCD 治疗之前接受了米格司他治疗，但所有患者均表现出快速的疾病进展。同样，一些患者表现出短暂的改善；然而，经过长期IT-HPBCD治疗后，所有患者的病情都稳定下来。三名患者出现轻度至中度听力损失。此外，长期使用 IT-HPBCD 治疗可能会抑制鼻咽癌患者的神经功能恶化；然而，患者仍会经历一些疾病进展。 IT-HPBCD 的长期治疗可能会抑制鼻咽癌患者的神经功能恶化；然而，治疗结果取决于诊断时的神经系统状态，并且疾病进展并不能完全受到抑制。为了及早发现疾病，需要提高对疾病的认识和新生儿筛查。此外，需要进一步优化治疗方案和额外的治疗以改善患者的治疗效果。