Present and future of disease–modifying therapies in spinal muscular atrophy

Abstract

In spinal muscular atrophy (SMA), the efficacy and safety of three disease–modifying therapies (DMT) – the nucleic acid drug nusinersen, the small molecule drug risdiplam, and the gene therapy drug onasemnogene abeparvovec – have been demonstrated through global clinical trials, and real–world data has been accumulated around the world. Pre–symptomatic administration of DMT has also been shown to be highly effective in suppressing the onset of symptoms, and the future is becoming a reality for it to be a publicly funded disease targeted for newborn screening. The nationwide rollout of newborn screening for the intractable childhood disease SMA is expected to usher in a new era in which those who were supposed to receive care will become care providers.