美国麻省大学医学院Kevin A. Strauss等研究人员，完成了onasemnogene abeparvovec用于具有脊髓性肌肉萎缩风险并携带三个SMN2拷贝的无症状婴儿的临床试验。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, Wigderson, Melissa, Tauscher-Wisniewski, Sitra, McGill, Bryan E., Macek, Thomas A.

Issue&Volume: 2022-06-17

Abstract: Most children with biallelic SMN1 deletions and three SMN2 copies develop spinal muscular atrophy (SMA) type 2. SPR1NT (NCT03505099), a Phase III, multicenter, single-arm trial, investigated the efficacy and safety of onasemnogene abeparvovec for presymptomatic children with biallelic SMN1 mutations treated within six postnatal weeks. Of 15 children with three SMN2 copies treated before symptom onset, all stood independently before 24months (P<0.0001; 14 within normal developmental window), and 14 walked independently (P<0.0001; 11 within normal developmental window). All survived without permanent ventilation at 14months; ten (67%) maintained body weight (≥3rd WHO percentile) without feeding support through 24months; and none required nutritional or respiratory support. No serious adverse events were considered treatment-related by the investigator. Onasemnogene abeparvovec was effective and well-tolerated for presymptomatic infants at risk of SMA type 2, underscoring the urgency of early identification and intervention.

DOI: 10.1038/s41591-022-01867-3

Source: https://www.nature.com/articles/s41591-022-01867-3