サイトウ　カヨコ   Saitou Kayoko   齋藤　加代子    所属   医学部 医学科（東京女子医科大学病院）    職種   特任教授
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial.
掲載誌名	正式名：Nature medicine 略　 称：Nat Med ISSNコード：1546170X/10788956
掲載区分	国外
巻・号・頁	Online ahead of print,pp.1-9
国際共著	国際共著
著者・共著者	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
発行年月	2022/06
概要	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 ≥30 seconds 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
PMID	35715566