美国麻省大学医学院Kevin A. Strauss等研究人员，完成了onasemnogene abeparvovec用于具有1型脊髓性肌萎缩风险的并携带两个SMN2拷贝的症状前婴儿的临床试验。这一研究成果于2022年6月17日在线发表在国际学术期刊《自然—医学》上。

Author: Strauss, Kevin A., Farrar, Michelle A., Muntoni, Francesco, Saito, Kayoko, Mendell, Jerry R., Servais, Laurent, McMillan, Hugh J., Finkel, Richard S., Swoboda, Kathryn J., Kwon, Jennifer M., Zaidman, Craig M., Chiriboga, Claudia A., Iannaccone, Susan T., Krueger, Jena M., Parsons, Julie A., Shieh, Perry B., Kavanagh, Sarah, Tauscher-Wisniewski, Sitra, McGill, Bryan E., Macek, Thomas A.

Issue&Volume: 2022-06-17

Abstract: SPR1NT (NCT03505099) was a Phase III, multicenter, single-arm study to investigate the efficacy and safety of onasemnogene abeparvovec for presymptomatic children with biallelic SMN1 mutations treated at ≤6 weeks of life. Here, we report final results for 14 children with two copies of SMN2, expected to develop spinal muscular atrophy (SMA) type 1. Efficacy was compared with a matched Pediatric Neuromuscular Clinical Research natural-history cohort (n=23). All 14 enrolled infants sat independently for ≥30seconds at any visit ≤18 months (Bayley-III item #26; P<0.001; 11 within the normal developmental window). All survived without permanent ventilation at 14 months as per protocol; 13 maintained body weight (≥3rd WHO percentile) through 18 months. No child used nutritional or respiratory support. No serious adverse events were considered related to treatment by the investigator. Onasemnogene abeparvovec was effective and well-tolerated for children expected to develop SMA type 1, highlighting the urgency for universal newborn screening.

DOI: 10.1038/s41591-022-01866-4

Source: https://www.nature.com/articles/s41591-022-01866-4