全球首个批准用于治疗CLN2疾病的重组人三肽基肽酶1蛋白药物概述

First Global Approved Drug-Recombinant Human Tripeptidyl Peptidase-1 (TPP1) for the Treatment of CLN2 Disease

关键词:  2型神经元蜡样脂褐质沉积症  三肽基肽酶1  cerliponase alfa

Key words:  CLN2  TPP1  cerliponase alfa

摘要:

迟发性小儿2型神经元蜡样脂褐质沉积症（late infantile neuronal ceroid lipofuscinosis type 2，CLN2）是一类由三肽基肽酶Ⅰ（tripeptidyl peptidase-1，TPP1）缺乏所致的小儿神经退行性病变，该病是致死性疾病。BioMarin制药公司研发的药物cerliponase alfa（商品名：Brineura）为全球首个批准用于治疗此疾病的TPP1蛋白替代类药物，具有里程碑意义。本文通过挖掘相关药学信息、专利现状、市场情况、药理毒理、临床安全性、有效性等方面数据，对cerliponase alfa进行全面剖析总结，为进一步了解该药物提供信息，并为相关罕见病的研究和治疗提供参考。

Abstract:

Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), a paediatric neurodegenerative disease caused by a deficiency in TPP1 is characterised by progressive impairment of motor function, language deficiencies, seizures, ataxia, blindness and early death. Cerliponase alfa (Brineura) is the first global approved drug-recombinant human tripeptidyl peptidase-1 (TPP1) for treating CLN2, and it is a recombinant human tripeptidyl peptidase-1 (TPP1) being developed by BioMarin Pharmaceutical Inc. This article summarizes the milestones in the development of cerliponase alfa from the aspects of chemistry, patent status, market sale value, mechanism, pharmacokinetics, and the effect and safety data obtained from clinical trials. Then the important information of cerliponase alfa will be provided for domestic researcher to further understand the drug, and may provide some help for the research and treatment of relevant rare disease.