Newborn screening for spinal muscular atrophy with disease-modifying therapies

To cite: Shih STF, Farrar MA, Wiley V, et al. Journal of Neurology, Neurosurgery & Psychiatry Published Online First: 28 July 2021. doi: 10.1136/jnnp-2021-326344.
Read the full article here: dx.doi.org/10.1...
Objective: To assess cost-effectiveness of newborn screening (NBS) for spinal muscular atrophy (SMA) and early treatment with nusinersen or onasemnogene abeparvovec (gene therapy), compared with nusinersen without SMA screening.
Conclusions: NBS coupled with gene therapy improves the quality and length of life for infants with SMA and would be considered value-for-money from an Australian clinical and policy context.