Two breakthrough gene-targeted treatments for spinal muscular atrophy: challenges remain

J Clin Invest. 2018 Aug 1;128(8):3219-3227. doi: 10.1172/JCI121658. Epub 2018 Jul 9.

Abstract

The motor neuron disease spinal muscular atrophy (SMA) is caused by recessive, loss-of-function mutations of the survival motor neuron 1 gene (SMN1). Alone, such mutations are embryonically lethal, but SMA patients retain a paralog gene, SMN2, that undergoes alternative pre-mRNA splicing, producing low levels of SMN protein. By mechanisms that are not well understood, reduced expression of the ubiquitously expressed SMN protein causes an early-onset motor neuron disease that often results in infantile or childhood mortality. Recently, striking clinical improvements have resulted from two novel treatment strategies to increase SMN protein by (a) modulating the splicing of existing SMN2 pre-mRNAs using antisense oligonucleotides, and (b) transducing motor neurons with self-complementary adeno-associated virus 9 (scAAV9) expressing exogenous SMN1 cDNA. We review the recently published clinical trial results and discuss the differing administration, tissue targeting, and potential toxicities of these two therapies. We also focus on the challenges that remain, emphasizing the many clinical and biologic questions that remain open. Answers to these questions will enable further optimization of these remarkable SMA treatments as well as provide insights that may well be useful in application of these therapeutic platforms to other diseases.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Dependovirus
  • Gene Targeting / methods*
  • Humans
  • Motor Neurons / metabolism
  • Motor Neurons / pathology
  • Muscular Atrophy, Spinal* / genetics
  • Muscular Atrophy, Spinal* / metabolism
  • Muscular Atrophy, Spinal* / therapy
  • Oligonucleotides, Antisense / genetics
  • Oligonucleotides, Antisense / therapeutic use*
  • RNA Splicing / genetics
  • Survival of Motor Neuron 1 Protein* / genetics
  • Survival of Motor Neuron 1 Protein* / metabolism
  • Survival of Motor Neuron 2 Protein / genetics
  • Survival of Motor Neuron 2 Protein / metabolism

Substances

  • Oligonucleotides, Antisense
  • SMN1 protein, human
  • SMN2 protein, human
  • Survival of Motor Neuron 1 Protein
  • Survival of Motor Neuron 2 Protein