The devastating paediatric-onset lysosomal storage disorder mucopolysaccharidosis type III syndrome (also known as Sanfilippo syndrome), has been viewed as untreatable. Rapidly progressing neurological impairments lead to death, typically in the second decade of life. In The Lancet Neurology, Marc Tardieu and colleagues¹ report the outcomes of a phase 1/2 clinical trial of intracerebral gene therapy with a recombinant adenoassociated viral vector serotype 2/5 encoding human α-N-acetylglucosaminidase (NAGLU) in four young children (age 20–53 months) with mucopolysaccharidosis type IIIB syndrome.

中文翻译：

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脑内基因治疗黏多糖贮积症IIIB型综合征

破坏性的儿科发作溶酶体贮积病III型粘多糖贮积病综合征（也称为Sanfilippo综合征）被认为无法治愈。快速发展的神经功能障碍会导致死亡，通常是在生命的第二个十年中。Marc Tardieu及其同事在《柳叶刀神经病学》（The Lancet Neurology）^一书中报道了在4个幼儿中用编码人α-N-乙酰氨基葡萄糖苷酶（NAGLU）的重组腺相关病毒载体血清型2/5进行脑内基因治疗的1/2期临床试验的结果（年龄在20-53个月之间）患有粘多糖贮积症IIIB型综合征。