Drug discovery and development for spinal muscular atrophy: lessons from screening approaches and future challenges for clinical development

Future Med Chem. 2010 Sep;2(9):1429-40. doi: 10.4155/fmc.10.228.

Abstract

Spinal muscular atrophy (SMA) is a progressive pediatric neuromuscular disease. Because disease severity is related to survival motor neuron (SMN) protein levels, increasing SMN production from the SMN2 gene has been a major SMA drug-discovery strategy. Cell-based assays using neuronal cell lines and cells from SMA patients have identified compounds that can increase SMN protein expression. Our experience of using such an assay signaled potential risks to be avoided through the use of appropriate secondary assays. In addition to the 'SMN2' approach, compensating for decreased SMN protein or neuroprotection are also potential SMA drug-discovery strategies. SMA clinical trials are now a reality; however, trial design in a slowly progressing rare disease such as SMA will present an interesting future challenge.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Drug Discovery*
  • Drug Evaluation, Preclinical
  • Humans
  • Muscular Atrophy, Spinal / drug therapy*