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In Search of a Cure: The Development of Therapeutics to Alter the Progression of Spinal Muscular Atrophy

Ojala, Kristine S. and Reedich, Emily J. and DiDonato, Christine J. and Meriney, Stephen D. (2021) In Search of a Cure: The Development of Therapeutics to Alter the Progression of Spinal Muscular Atrophy. Brain Sciences, 11 (2). p. 194. ISSN 2076-3425

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Until the recent development of disease-modifying therapeutics, spinal muscular atrophy (SMA) was considered a devastating neuromuscular disease with a poor prognosis for most affected individuals. Symptoms generally present during early childhood and manifest as muscle weakness and progressive paralysis, severely compromising the affected individual’s quality of life, independence, and lifespan. SMA is most commonly caused by the inheritance of homozygously deleted <i>SMN1</i> alleles with retention of one or more copies of a paralog gene, <i>SMN2</i>, which inversely correlates with disease severity. The recent advent and use of genetically targeted therapies have transformed SMA into a prototype for monogenic disease treatment in the era of genetic medicine. Many SMA-affected individuals receiving these therapies achieve traditionally unobtainable motor milestones and survival rates as medicines drastically alter the natural progression of this disease. This review discusses historical SMA progression and underlying disease mechanisms, highlights advances made in therapeutic research, clinical trials, and FDA-approved medicines, and discusses possible second-generation and complementary medicines as well as optimal temporal intervention windows in order to optimize motor function and improve quality of life for all SMA-affected individuals.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Ojala, Kristine
Reedich, Emily J.
DiDonato, Christine J.
Meriney, Stephen D.meriney@pitt.edumeriney
Date: 5 February 2021
Date Type: Publication
Journal or Publication Title: Brain Sciences
Volume: 11
Number: 2
Publisher: MDPI AG
Page Range: p. 194
DOI or Unique Handle: 10.3390/brainsci11020194
Schools and Programs: Dietrich School of Arts and Sciences > Neuroscience
Refereed: Yes
Uncontrolled Keywords: spinal muscular atrophy, motoneuron disease, neuromuscular disease, therapeutics
ISSN: 2076-3425
Official URL:
Funders: The National Institute of Neurological Disorders and Stroke, Muscular Dystrophy Association, CureSMA
Article Type: Review
Date Deposited: 02 Jun 2021 20:14
Last Modified: 02 Jun 2021 20:14


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