title: Investigational therapies for the treatment of spinal muscular atrophy.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: University of Cologne, Institute of Human Genetics , Kerpener Str. 34, Cologne 50931 , Germany +49 221 478 86464 ; +49 221 478 86465 ; markus.riessland@gmail.com.
authors.forename: Anna
authors.initials: A
authors.lastname: Kaczmarek
authors.forename: Svenja
authors.initials: S
authors.lastname: Schneider
authors.forename: Brunhilde
authors.initials: B
authors.lastname: Wirth
authors.forename: Markus
authors.initials: M
authors.lastname: Riessland
mesh_terms: D000818:Animals; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000378:metabolism / Q000628:therapy*; D055533:Survival of Motor Neuron 1 Protein / Q000378:metabolism; D035703:Therapies, Investigational
chemical_list: D055533:Survival of Motor Neuron 1 Protein
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