In 2016, new therapies for spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD), neuromuscular diseases caused by rare genetic mutations, were approved by the US Food and Drug Administration. Characterized by progressive muscle weakness and premature death, these diseases are devastating; in the most severe type of SMA, for example, children are unable to sit or stand unassisted and typically die before 2 years of age due to respiratory muscle weakness.
The recently approved treatments, nusinersen for SMA and eteplirsen for DMD, share a common therapeutic approach: the use of antisense oligonucleotides (ASOs). These short synthetic strands of nucleic acid modulate expression of specific genes by binding to complementary mRNA. Although the long-term effects of these drugs remain to be seen, their clinical success in SMA in particular has been remarkable. In a recent trial involving 122 infants with SMA, 51% of children who received nusinersen demonstrated improvement in motor milestones (for some this included the ability to roll over, sit independently, or stand), compared with none of the children who received placebo.
Muth CC. ASO Therapy: Hope for Genetic Neurological Diseases. JAMA. 2018;319(7):644–646. doi:10.1001/jama.2017.18665
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