2018 26 APR
Type of content: news
Communicative register:
Focus area: Physicians - Family

Nusinersen: the treatment that changes history of the SMA

Since september 2017, Nusinersen (Spinraza®) is finally available. A treatment able to modify the evolution of the SMA now exsists.

Spinal Muscular Atrophies (SMAs) are degenerative disorders of anterior horn cells of the spinal cord [1] associated to mutations of the survival of motor neuron gene (SMN1) located at 5q12.3. Pulmonary pathologies represent the leading causes of hospitalization and death in patients affected by SMA.
Nusinersen (Spinraza®), an innovative treatment able to stop the evolution of the SMA, recently received marketing authorization. It significatively improves ventilation-free and overall survival and motor function.
It consists of a single-stranded RNA antisense oligonucleotide which binds to repressive sites within SMN2 exon 7 or the flanking introns, thus promoting exon 7 inclusion, increased production of functional SMN protein, and rescuing the motor neuron pathology. Thanks to the extraordinary results obtained in the Phase I and II studies, Nusinersen was approved by the Italian Medicines Agency on september 2017. The availability of this treatment represents a turning point, that open up scenarios of motivated hope  for a disease, whose diagnosis sounded, until very recently, as a death sentence.

1. Bach JR, Baird JS, Plosky D, Navado J, Weaver B. Spinal muscular atrophy type 1: management and outcomes. Pediatr Pulmonol 2002;34:16–22
2.    Coovert DD, Le TT, McAndrew PE, Strasswimmer J, Crawford TO, Mendell JR, Coulson SE, Androphy EJ, Prior TW, Burghes AH. The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet. 1997 Aug;6(8):1205-14
3.    US. FDA approves first drug for spinal muscular atrophy. 2016. Accessed 17 Jan 2017
4.    Finkel RS, Chiriboga CA, Vajsar J, et al. Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study. Lancet. 2017;388(10063): 3017–26

Article by Claudio Cherchi