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Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial
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Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial
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Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial
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Journal Article
Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial
2022
Overview
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.
For infants with three copies of
SMN1
at risk for spinal muscular atrophy (SMA) type 1, onasemnogene abeparvovec improves ventilator-free survival and nutritional/respiratory independence and allows motor development indistinguishable from healthy children without SMA.
Publisher
Nature Publishing Group US,Nature Publishing Group,Nature Research
Subject
/ Atrophy
/ Biochemistry, Genetics and Molecular Biology (all)
/ Biomedical and Life Sciences
/ Child
/ Children
/ General Biochemistry, Genetics and Molecular Biology
/ Humans
/ Infant
/ Infants
/ Muscular Atrophy, Spinal - genetics
/ Mutation
/ Risk
/ Sciences de la santé humaine
/ Spinal Muscular Atrophies of Childhood
/ Spinal Muscular Atrophies of Childhood - genetics
/ Spinal Muscular Atrophies of Childhood - therapy
