The first disease-modifying treatment for spinal muscular atrophy (SMA), nusinersen, was approved by the US Food and Drug Administration (FDA) on Dec 23, 2016, and by the European Medicines Agency (EMA) on May 30, 2017. The approval was based on evidence of clinically meaningful improvements in motor milestones in young children with varying degrees of disease severity from two clinical trials (ENDEAR, NCT02193074, and CHERISH, NCT02292537). The regulatory approval is a historic development, but it is unlikely that the drug will be available to all patients who would benefit from treatment, unless its manufacturer offers a fairer price than the current cost of this drug.
Nusinersen, an antisense oligonucleotide, is given by intrathecal injection, at a cost of US$125 000 per injection. Six doses are required in the first year and three doses per year after that; hence, the treatment amounts to US$750 000 for the first year and US$375 000 for every year afterwards. This estimate does not account for administration costs. The marketing process has just started in Europe, separately for each country, with prices likely to vary between countries. Although the drug has not been approved in all countries yet, nusinersen is available worldwide, depending on local laws and regulations, through the manufacturer's Expanded Access Programme (EAP). However, even though the drug has been approved for all SMA types, only patients with infantile-onset SMA (consistent with type 1) are eligible for the EAP. Similarly, not all US-based health insurance companies will cover nusinersen therapy for patients with late-onset SMA (consistent with type 2 and 3) as the benefits in clinical trials were less clear compared with those in patients with type 1 SMA.