Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: 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., Tauscher-Wisniewski S., McGill BE., Macek TA.
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