Investigational therapies for the treatment of spinal muscular atrophy

Expert Opin Investig Drugs. 2015;24(7):867-81. doi: 10.1517/13543784.2015.1038341. Epub 2015 Apr 24.


Introduction: Currently, there is no cure available for the hereditary neurodegenerative disease proximal spinal muscular atrophy (SMA), which is the number one genetic killer in early childhood. However, growing knowledge of SMA pathophysiology has opened new avenues for potential therapeutic interventions.

Areas covered: This review summarizes a variety of investigational therapeutic approaches for SMA. Focusing on the current state-of-the-art applications, the authors discuss the outcome of the first clinical interventions and compare the first results from the newest strategies. The achievements of the investigational drugs highlighted in this article were deduced from original articles, pharmaceutical company press releases and clinical trial results.

Expert opinion: Nearly two decades after the discovery of the disease causing gene survival motor neuron 1, many therapeutic options for SMA have been developed, some of which made it to clinical trials but could not prove their promising experimental results. Recently, big research efforts from academia, government and the pharmaceutical industry have led to the development of highly promising compounds that are currently in clinical trials, and which could lead to feasible treatment options in the future.

Keywords: BAY 55-9837; Y-27632; aminoglycosides; antisense oligonucleotides; bortezomib; fasudil; gabapentin; histone deacetylase inhibitors; hydroxyurea; motor neuron; olesoxime; quinazolines; riluzole; salbutamol; spinal muscular atrophy; splicing; suberoylanilide hydroxamic acid; valproic acid; viral gene therapy.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Humans
  • Muscular Atrophy, Spinal / metabolism
  • Muscular Atrophy, Spinal / therapy*
  • Survival of Motor Neuron 1 Protein / metabolism
  • Therapies, Investigational


  • Survival of Motor Neuron 1 Protein