Discovery and Optimization of Small Molecule Splicing Modifiers of Survival Motor Neuron 2 as a Treatment for Spinal Muscular Atrophy

J Med Chem. 2016 Jul 14;59(13):6070-85. doi: 10.1021/acs.jmedchem.6b00460. Epub 2016 Jul 6.

Abstract

The underlying cause of spinal muscular atrophy (SMA) is a deficiency of the survival motor neuron (SMN) protein. Starting from hits identified in a high-throughput screening campaign and through structure-activity relationship investigations, we have developed small molecules that potently shift the alternative splicing of the SMN2 exon 7, resulting in increased production of the full-length SMN mRNA and protein. Three novel chemical series, represented by compounds 9, 14, and 20, have been optimized to increase the level of SMN protein by >50% in SMA patient-derived fibroblasts at concentrations of <160 nM. Daily administration of these compounds to severe SMA Δ7 mice results in an increased production of SMN protein in disease-relevant tissues and a significant increase in median survival time in a dose-dependent manner. Our work supports the development of an orally administered small molecule for the treatment of patients with SMA.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alternative Splicing / drug effects*
  • Animals
  • Cell Line
  • Drug Discovery
  • Exons / drug effects
  • HEK293 Cells
  • Humans
  • Mice, Knockout
  • Muscular Atrophy, Spinal / drug therapy*
  • Muscular Atrophy, Spinal / genetics
  • RNA, Messenger / genetics
  • Small Molecule Libraries / administration & dosage
  • Small Molecule Libraries / chemistry*
  • Small Molecule Libraries / pharmacology*
  • Small Molecule Libraries / therapeutic use
  • Structure-Activity Relationship
  • Survival of Motor Neuron 2 Protein / genetics

Substances

  • RNA, Messenger
  • SMN2 protein, human
  • Small Molecule Libraries
  • Survival of Motor Neuron 2 Protein