Takeaway
Nusinersen is associated with improvements in motor and pulmonary function in adults with spinal muscular atrophy (SMA).
Why this matters
Individuals with SMA lack functional copies of SMN1, resulting in a deficiency of survival motor neuron (SMN) protein; SMN2 generates SMN protein less efficiently than SM1.
Nusinersen, an antisense oligonucleotide that modifies SMN2 RNA splicing and increases protein production, improved motor function and survival in childhood-onset SMA; however, it has not been trialed in adults.