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 three copies of SMN2 at risk for spinal muscular atrophy: 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.1-8
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, Wigderson Melissa, Tauscher-Wisniewski Sitra, McGill Bryan E, Macek Thomas A
Publication date 2022/06
Summary 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 24 months (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 14 months; ten (67%) maintained body weight (≥3rd WHO percentile) without feeding support through 24 months; 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
PMID 35715567