Natural history of infantile-onset spinal muscular atrophy.
Stephen J KolbChristopher S CoffeyJon W YankeyKristin KrosschellWilliam David ArnoldSeward B RutkoveKathryn J SwobodaSandra P ReynaAi SakonjuBasil T DarrasRichard ShellNancy KuntzDiana CastroJulie ParsonsAnne M ConnollyClaudia A ChiribogaCraig McDonaldW Bryan BurnetteKlaus WernerMathula ThangarajhPerry B ShiehErika FinangerMerit E CudkowiczMichelle M McGovernD Elizabeth McNeilRichard FinkelSusan T IannacconeEdward KayeAllison KingsleySamantha R RenuschVicki L McGovernXueqian WangPhillip G ZaworskiThomas W PriorArthur H M BurghesAmy BartlettJohn T Kisselnull nullPublished in: Annals of neurology (2017)
These data of SMA and control outcome measures delineates meaningful change in clinical trials in infantile-onset SMA. The power and utility of NeuroNEXT to provide "real-world," prospective natural history data sets to accelerate public and private drug development programs for rare disease is demonstrated. Ann Neurol 2017;82:883-891.