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Treatment Advances in Spinal Muscular Atrophy

  • Nerve and Muscle (L H Weimer, Section Editor)
  • Published:
Current Neurology and Neuroscience Reports Aims and scope Submit manuscript

Abstract

Purpose of Review

Spinal muscular atrophy (SMA) is a genetic disorder of motor neurons in the anterior horns of the spinal cord and brainstem that results in muscle atrophy and weakness. SMA is an autosomal recessive disease linked to deletions of the SMN1 gene on chromosome 5q. Humans have a duplicate gene (SMN2) whose product can mitigate disease severity, leading to the variability in severity and age of onset of disease, and is therefore a target for drug development.

Recent Findings

Advances in preclinical and clinical trials have paved the way for novel therapeutic options for SMA patients, including many currently in clinical trials. In 2016, the first treatment for SMA has been approved in the USA, an antisense oligonucleotide that increases full-length protein product derived from SMN2.

Summary

The approval of a first treatment for SMA and the rapid advances in clinical trials provide the prospect for multiple approaches to disease modification. There are several other promising therapeutics in different stages of development, based on approaches such as neuroprotection, or gene therapy.

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Author information

Authors and Affiliations

  1. Department of Neurology, Children’s National Medical Center, Washington, DC, USA

    Diana Bharucha-Goebel

  2. Neuromuscular and Neurogenetic Disorders of Childhoood Section (NNDCS)/NINDS/NIH, Bethesda, MD, USA

    Diana Bharucha-Goebel

  3. National Center for Advancing Translational Sciences (NCATS)/NIH, Bethesda, MD, USA

    Petra Kaufmann

Authors
  1. Diana Bharucha-Goebel
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  2. Petra Kaufmann
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Corresponding author

Correspondence to Diana Bharucha-Goebel.

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The authors declare that they have no conflict of interest.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.

Additional information

The views expressed are those of the authors and do not reflect official NIH perspectives or policies.

This article is part of the Topical Collection on Nerve and Muscle

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Bharucha-Goebel, D., Kaufmann, P. Treatment Advances in Spinal Muscular Atrophy. Curr Neurol Neurosci Rep 17, 91 (2017). https://doi.org/10.1007/s11910-017-0798-y

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  • DOI: https://doi.org/10.1007/s11910-017-0798-y

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