Spinal muscular atrophy (SMA) is a fatal autosomal recessive neuromuscular disorder characterized by degeneration of spinal motor neurons. Nusinersen is globally the first drug approved by FDA for the treatment of SMA in children and adults. This article reports the efficacy, safety, and tolerability of Nusinersen as observed in phase 3 clinical trials. Spinal muscular atrophy (SMA) is a debilitating autosomal recessive genetic neuromuscular disorder characterized by degeneration of motor neurons of the spinal cord and brainstem.
SMA occurs due to a large deletion of or point mutation in SMN1 gene resulting in the formation of defective SMN1 protein. Hence the severity of the disease, at least to some extent, depends on the levels of the functional SMN protein. Worldwide incidence ranges from 1:10000 to 1:6000 live births, whereas the change of carrier is estimated between 1:60 and…
