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Spinal Muscular Atrophy: Entering the Treatment Age

  • Neurology (D Stephenson, Section Editor)
  • Published:
Current Pediatrics Reports Aims and scope Submit manuscript

Abstract

Purpose of Review

Spinal muscular atrophy is a devastating neurodegenerative disorder. With the recent approval of the first treatment, nusinersen (Spinraza), the natural course of the disease will change. It poses new challenges in administration and highlights the importance of early diagnosis.

Recent Findings

Nusinersen, an antisense oligonucleotide, helps to ameliorate disease severity in patients with spinal muscular atrophy (SMA)1 and SMA2 early in their disease course, helping to decrease the risk of death and respiratory support, as well as enhance motor outcomes in all patients with SMA. Treatment earlier in the course of disease is associated with better outcomes. Overall, treatment is well tolerated, but repeated intrathecal administration can be both technically difficult as well as expensive.

Summary

Nusinersen is an important step forward in the treatment of spinal muscular atrophy. With the availability of a treatment, we have to change our approach to diagnosis, focusing on carrier testing and/or newborn screening as well as a low threshold for clinical testing.

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Authors and Affiliations

  1. Division of Neurology, Children’s Hospital of Philadelphia, 3401 Civic Center Blvd., Philadelphia, USA

    Elizabeth A. Kichula, Sabrina W. Yum & John Brandsema

  2. Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA

    Elizabeth A. Kichula, Sabrina W. Yum & John Brandsema

Authors
  1. Elizabeth A. Kichula
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  2. Sabrina W. Yum
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Corresponding author

Correspondence to Elizabeth A. Kichula.

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Conflict of Interest

Sabrina W. Yum declares no conflicts of interest. Elizabeth A Kichula was an advisor for Avexis Pharmaceuticals. John Brandsema reports grants and personal fees from Biogen, grants and personal fees from AveXis, grants and personal fees from Sarepta, personal fees from Alexion, personal fees from Marathon, and grants and personal fees from PTC Therapeutics.

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

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This article is part of the Topical Collection on Neurology

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Kichula, E.A., Yum, S.W. & Brandsema, J. Spinal Muscular Atrophy: Entering the Treatment Age. Curr Pediatr Rep 6, 9–15 (2018). https://doi.org/10.1007/s40124-018-0150-2

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  • DOI: https://doi.org/10.1007/s40124-018-0150-2

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