新生儿遗传代谢病检测试剂注册技术要点解析

Analysis of Key Technical Points of Diagnostic Reagents for Inborn Errors of Metabolism

利用串联质谱技术检测血液中的氨基酸、肉碱和琥珀酰丙酮含量,结果的异常可提示患有某种遗传代谢疾病的可能,这对于新生儿遗传代谢病的早期诊断和治疗有非常重要的意义。随着相关检测技术的发展,该类试剂逐渐成为注册申报的热点。鉴于其性能评估和临床试验方面具有复杂性和特殊性,文章参考了国内外相关标准和技术性文件,对注册中常见的重点技术问题进行解析,以期对产品的研发和注册工作提供一些思路和帮助。

Detection of amino acids,carnitine and succinylacetone in blood by tandem mass spectrometry can preliminarily indicate the possibility of inborn errors of metabolism,which is very important for early diagnosis and treatment of metabolic disease.With the development of related detection technology,these reagents have gradually become the hot spot of registration.In view of the complexity and particularity of their performance evaluation and clinical trials,this review analyzes the main technical issues referring to internal and overseas related technical documentation,to providing ideas and help for product development and registration.