作者
John W Day, Richard S Finkel, Claudia A Chiriboga, Anne M Connolly, Thomas O Crawford, Basil T Darras, Susan T Iannaccone, Nancy L Kuntz, Loren DM Peña, Perry B Shieh, Edward C Smith, Jennifer M Kwon, Craig M Zaidman, Meredith Schultz, Douglas E Feltner, Sitra Tauscher-Wisniewski, Haojun Ouyang, Deepa H Chand, Douglas M Sproule, Thomas A Macek, Jerry R Mendell
发表日期
2021/4/1
期刊
The Lancet Neurology
卷号
20
期号
4
页码范围
284-293
出版商
Elsevier
简介
Background
Spinal muscular atrophy type 1 is a motor neuron disorder resulting in death or the need for permanent ventilation by age 2 years. We aimed to evaluate the safety and efficacy of onasemnogene abeparvovec (previously known as AVXS-101), a gene therapy delivering the survival motor neuron gene (SMN), in symptomatic patients (identified through clinical examination) with infantile-onset spinal muscular atrophy.
Methods
STR1VE was an open-label, single-arm, single-dose, phase 3 trial done at 12 hospitals and universities in the USA. Eligible patients had to be younger than 6 months and have spinal muscular atrophy with biallelic SMN1 mutations (deletion or point mutations) and one or two copies of SMN2. Patients received a one-time intravenous infusion of onasemnogene abeparvovec (1·1 × 1014 vector genomes per kg) for 30–60 min. During the outpatient follow-up, patients were assessed …
学术搜索中的文章
JW Day, RS Finkel, CA Chiriboga, AM Connolly… - The Lancet Neurology, 2021