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  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.
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