Onasemnogene-abeparvovec administration to premature infants with spinal muscular atrophy

被引：1
作者：
Brown, Stephen M. [1 ]
Ajjarapu, Aparna S. [2 ]
Ramachandra, Divya [3 ]
Blasco-Perez, Laura [4 ,5 ]
Costa-Roger, Mar [4 ,5 ]
Tizzano, Eduardo F. [4 ,5 ]
Sumner, Charlotte J. [1 ]
Mathews, Katherine D. [2 ,6 ]
机构：
[1] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD USA
[2] Univ Iowa, Carver Coll Med, Dept Pediat, 1317 Boyd Tower,200 Hawkins Dr, Iowa City, IA 52242 USA
[3] Advocate Childrens Hosp, Dept Genet, Oak Lawn, IL USA
[4] Hosp Valle De Hebron, Dept Clin & Mol Genet, VHIR, Barcelona, Spain
[5] Hosp Valle De Hebron, Med Genet Grp, VHIR, Barcelona, Spain
[6] Univ Iowa, Carver Coll Med, Dept Neurol, Iowa City, IA USA
来源：
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY | 2024年 / 11卷 / 11期
基金：
美国国家卫生研究院;
关键词：
D O I：
10.1002/acn3.52213
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
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.
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收藏
页码：3042 / 3046
页数：5
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