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Drugs. 2014 Jan;74(1):61-74. doi: 10.1007/s40265-013-0164-6.
Miglustat (Zavesca®, Brazaves®), a small iminosugar molecule that reversibly inhibits glycosphingolipid synthesis, is the only disease-specific drug approved for the treatment of progressive neurological manifestations of Niemann-Pick disease type C (NP-C) in adult and paediatric patients. NP-C is a rare, autosomal-recessive lipid storage disorder characterized by impaired intracellular lipid trafficking and progressive neurological symptoms leading to premature death. In a randomized clinical trial, long-term extension studies and a retrospective observational cohort study, treatment with oral miglustat stabilized key neurological manifestations of NP-C (including horizontal saccadic eye movement peak velocity, ambulation, manipulation, language and swallowing) in paediatric and adult patients with the disease. The therapeutic effects of miglustat in stabilizing or slowing disease progression have been confirmed in other reports in the clinical experience setting. The primary tolerability issues associated with miglustat are mild to moderate gastrointestinal effects (e.g. diarrhoea, flatulence and abdominal pain/discomfort) and weight loss, which usually occur during initial therapy and are generally manageable. In the absence of a cure, miglustat is a valuable agent to reduce the progression of clinically relevant neurological symptoms in paediatric and adult patients with NP-C, which is considered a significant achievement in the treatment of this disease.
米格列醇（Zavesca®，Brazaves®）是一种小分子氨基糖，可逆性抑制糖脂的合成，是唯一被批准用于治疗成年和儿童 NPC 进行性神经表现的疾病特异性药物。NPC 是一种罕见的常染色体隐性脂质贮积病，其特征为细胞内脂质转运受损和进行性神经症状导致早逝。在一项随机临床试验、长期扩展研究和回顾性观察队列研究中，口服米格列醇稳定 NPC 患者（包括水平扫视眼动峰速度、步行、操作、语言和吞咽）的关键神经表现。在临床经验环境中的其他报告中已证实米格列醇在稳定或减缓疾病进展方面的治疗效果。与米格列醇相关的主要耐受性问题是轻度至中度胃肠道效应（如腹泻、腹胀和腹痛/不适）和体重减轻，这些通常发生在初始治疗期间，通常是可以控制的。在没有治愈方法的情况下，米格列醇是减少 NPC 患儿和成年患者有临床意义的神经症状进展的有价值的药物，这被认为是治疗该病的一个重大成就。
