Spotlight: Roche’s SMA Drug, Risdiplam Makes Strong Case for Regulatory Approval
Spinal muscular atrophy (SMA), a motor neuron disease, is the leading inherited cause of death in newborns, affecting approximately one in 10,000 individuals. In SMA patients, recessive loss-of-function mutations in the survival motor neuron 1 gene (SMN1) results in a reduced amount of functional SMN protein, which then leads to loss of α motor neurons and severe muscle weakness, particularly in proximal, truncal, and bulbar muscle groups.
In patients with the most severe infantile-onset form (type I), infants do not survive beyond the first two years of life due to progressive hypotonia,