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法布里病属罕见的X伴性遗传性疾病,患者体内α-半乳糖苷酶不足或缺失,造成该酶的代谢底物三己糖酰基鞘脂醇在不同组织细胞溶酶体内聚积。migalastat为小分子药物,能够恢复特异性突变的α-半乳糖苷酶的活性。该药由Amicus制药公司开发,于2016年5月16日获欧盟批准用于年龄在16岁以上特异性突变型法布里病的长期治疗。本文从药效学、药动学、临床疗效及不良反应等方面对migalastat进行了介绍。
Fabry disease is a rare complication of X-linked inherited disease in which the body is deficient or absent alpha-galactosidase, resulting in the accumulation of the trihexoselated sphinganositol, the metabolic substrate of the enzyme, in lysosomes of different tissues. Migalastat is a small molecule drug that is capable of restoring the activity of specifically mutated α-galactosidase. Developed by Amicus Pharmaceuticals, the drug was approved by the European Union on May 16, 2016 for long-term treatment of specific mutant Fabry disease over the age of 16 years. In this paper, migalastat is introduced from the aspects of pharmacodynamics, pharmacokinetics, clinical efficacy and adverse reactions.