Current Neurology and Neuroscience Reports

, Volume 12, Issue 1, pp 42–53

New Therapeutic Approaches to Spinal Muscular Atrophy

  • Aga Lewelt
  • Tara M. Newcomb
  • Kathryn J. Swoboda
Nerve and Muscle (M Hirano and LH Weimer, Section Editors)

Abstract

Bench to bedside progress has been widely anticipated for a growing number of neurodegenerative disorders. Of these, spinal muscular atrophy (SMA) is perhaps the best poised to capitalize on advances in targeted therapeutics development over the next few years. Several laboratories have achieved compelling success in SMA animal models using sophisticated methods for targeted delivery, repair, or increased expression of the survival motor neuron protein, SMN. The clinical community is actively collaborating to identify, develop, and validate outcome measures and biomarkers in parallel with laboratory efforts. Innovative trial design and synergistic approaches to maximize proactive care in conjunction with treatment with one or more of the promising pharmacologic and biologic therapies currently in the pipeline will maximize our chances to achieve meaningful outcomes for patients. This review highlights recent promising scientific and clinical advances bringing us ever closer to effective treatment(s) for our patients with SMA.

Keywords

Spinal muscular atrophy SMA SMN1 SMN2 Therapeutics Clinical trials Sensory Motor AAV9 Gene therapy Humans Animal models Motor neuron Spinal cord circuitry Anterior horn cell Natural history Outcomes Phenotype Review RNA splicing Preclinical 

References

Papers of particular interest, published recently, have been highlighted as: •Of importance ••Of major importance

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Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Aga Lewelt
    • 1
  • Tara M. Newcomb
    • 2
  • Kathryn J. Swoboda
    • 3
  1. 1.Division of Physical Medicine and RehabilitationUniversity of Utah School of MedicineSalt Lake CityUSA
  2. 2.Department of NeurologyUniversity of Utah School of MedicineSalt Lake CityUSA
  3. 3.Departments of Neurology and Pediatrics, Pediatric Motor Disorders Research ProgramUniversity of Utah School of MedicineSalt Lake CityUSA

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