Translational Neuroscience Center, F.M. Kirby Neurobiology Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Clin Pharmacol Ther. 2018 Oct;104(4):603-606. doi: 10.1002/cpt.1181. Epub 2018 Aug 12.
Rare genetically defined neurodevelopmental disorders with increased risk of autism have recently become an entry point for autism-related drug discovery. Through exploration of downstream effects of the pathological mutations, specific mechanistic pathways have been identified as dysregulated. The identification of shared mechanisms across forms of autism opens the door for the development of novel "mechanism-based therapeutics." However, confidence in the therapeutic mechanism does not diminish the need for well-designed clinical trials.
最近，具有自闭症风险增加的罕见遗传性神经发育障碍已成为自闭症相关药物发现的切入点。通过探索病理性突变的下游效应，已经确定了特定的失调机制途径。自闭症不同形式之间存在共同机制的发现为开发新型“基于机制的疗法”打开了大门。然而，对治疗机制的信心并没有降低对精心设计的临床试验的需求。
