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经阿替利珠单抗治疗的脊髓性肌萎缩症早产儿。

Onasemnogene-abeparvovec administration to premature infants with spinal muscular atrophy.

机构信息

Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.

出版信息

Ann Clin Transl Neurol. 2024 Nov;11(11):3042-3046. doi: 10.1002/acn3.52213. Epub 2024 Sep 28.

DOI:10.1002/acn3.52213
PMID:39342433
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11572727/
Abstract

Twin girls born at 30 weeks' gestation with spinal muscular atrophy (SMA) received onsasemnogene-abeparvovec (OA) at 3.5 weeks of life. They had no treatment-related adverse events, normal acquisition of motor milestones, and normal neurological examination at 19 months. Genotyping revealed 0 copies of SMN1 and a single, hybrid SMN2 gene containing the positive genetic modifier c.835-44A>G. This was associated with full-length SMN2 blood mRNA expression levels similar to a 2 copy SMA infant. The observed favorable outcomes are likely due to the genetic modifier combined with early drug administration enabled by prematurity.

摘要

一对双胞胎女孩均于孕 30 周时出生，患有脊髓性肌萎缩症（SMA），于生后 3.5 周接受onasasemnogene-abeparvovec（OA）治疗。19 个月时，她们无治疗相关不良事件，运动里程碑正常获得，神经检查正常。基因分型显示 SMN1 无拷贝，SMN2 基因单一，含有正遗传修饰剂 c.835-44A>G。这与全长 SMN2 血 mRNA 表达水平相似，类似于 2 拷贝 SMA 婴儿。观察到的良好结果可能归因于遗传修饰剂与早产时药物的早期应用相结合。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a347/11572727/c3213b3d21cc/ACN3-11-3042-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a347/11572727/c3213b3d21cc/ACN3-11-3042-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a347/11572727/c3213b3d21cc/ACN3-11-3042-g001.jpg

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Motor and neurocognitive profiles of children with symptomatic spinal muscular atrophy type 1 with two copies of before and after treatment: a longitudinal observational study.具有两份SMN1基因拷贝的1型症状性脊髓性肌萎缩症患儿治疗前后的运动和神经认知特征：一项纵向观察研究。
Front Neurol. 2024 Feb 21;15:1326528. doi: 10.3389/fneur.2024.1326528. eCollection 2024.
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Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry.
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Sci Transl Med. 2025 May 14;17(798):eadv4656. doi: 10.1126/scitranslmed.adv4656.
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In utero therapy for spinal muscular atrophy: closer to clinical translation.脊髓性肌萎缩症的宫内治疗：更接近临床转化。
Brain. 2025 Apr 7. doi: 10.1093/brain/awaf123.
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