Saito Kayoko
   Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine
   Position   Professor (Fixed Term)
Article types Original article
Language English
Peer review Peer reviewed
Title Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial.
Journal Formal name：Nature medicine
Abbreviation：Nat Med
ISSN code：1546170X/10788956
Domestic / ForeginForegin
Volume, Issue, Page Online ahead of print,pp.1-9
International coauthorship International coauthorship
Author and coauthor 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
Publication date 2022/06
Summary 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