Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial.
Strauss KA., Farrar MA., Muntoni F., Saito K., Mendell JR., Servais L., McMillan HJ., Finkel RS., Swoboda KJ., Kwon JM., Zaidman CM., Chiriboga CA., Iannaccone ST., Krueger JM., Parsons JA., Shieh PB., Kavanagh S., Wigderson M., Tauscher-Wisniewski S., McGill BE., Macek TA.
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