Spinal muscular atrophy

Spinal Muscular Atrophy (SMA) is characterised by loss of motor neurons and progressive muscle weakness. It predominantly affects children and is the most common cause of hereditary infant mortality. The condition results from mutations in the SMN1 gene, which deplete the survival motor neuron protein (SMN). In 2016, the antisense therapy nusinersen became the first approved disease-modifying therapy for SMA. In 2019, a gene therapy, onasemnogene abeparvovec, also received regulatory approval. However, the high cost of these therapies limits their use. In 2020, an orally deliverable small molecule, risdiplam, became the third approved therapy for SMA, with another small molecule, branaplam, in clinical development.

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