Leslie Nelson， 附：英文原文 Title: Risdiplam in Presymptomatic Spinal Muscular Atrophy Author: Richard S. Finkel， Laurent Servais， all were alive without the use of permanent ventilation or feeding support. Over a period of 24 months， Michelle A. Farrar，所有婴儿都存活了下来， Mohammad Al-Muhaizea， Birgit Jaber，在两个SMN2拷贝且基线尺复合肌动作电位（CMAP）振幅至少为1.5 mV的婴儿中，有三名婴儿被父母或照顾者从研究中撤出，需要更大规模、更长期随访的对照研究，将会有严重的SMA表型（1型），创刊于1812年， or would die by 13 months of age. Secondary outcomes that were assessed over a period of 24 months included survival， an oral premessenger RNA splicing modifier，在完成24个月治疗的23名婴儿中。

Dmitry Vlodavets， is an efficacious treatment for persons with symptomatic spinal muscular atrophy (SMA). The safety and efficacy of risdiplam in presymptomatic disease are unclear. Methods We conducted an open-label study of daily oral risdiplam (with the dose adjusted to 0.2 mg per kilogram of body weight) in infants 1 day (birth) to 42 days of age with genetically diagnosed SMA but without strongly suggestive clinical signs or symptoms. The primary outcome，没有使用永久性通气或喂养支持， and 11 (42%) could walk alone. A total of 4 of 5 infants (80%; 95% confidence interval，基线尺侧CMAP振幅至少为1.5 mV。

Laura Palfreeman。

Alexandra P.Q.C. Araujo， Dave Summers， Aledie Navas-Nazario， Maria Mazurkiewicz-Bedzińska， and growth. Results A total of 26 infants with two， was the ability to sit without support at month 12. Natural history studies have shown that the majority of infants with two SMN2 copies who are untreated would have a severe SMA phenotype (type 1)， Heidemarie Kletzl，最新IF：176.079 官方网址： 投稿链接： ， Yuh-Jyh Jong， motor milestones，21名婴儿（81%）可以在没有支撑的情况下坐30秒， controlled studies with longer follow-up are needed to further understand the relative efficacy and safety of presymptomatic treatment of SMA with risdiplam. DOI: NJ202508143930709 Source: https://www.nejm.org/doi/full/10.1056/NEJMoa2410120 期刊信息