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Introduction: Spinal muscular atrophy (SMA) is one of the most common inherited neuromuscular disorders. It causes progressive muscle weakness and results in significant disability. Until recently, there were no drugs available for the treatment of SMA. Several phase 1-3 studies, including three double-blind randomized placebo-controlled studies have demonstrated the efficacy of disease-modifying approaches including gene replacement therapy, antisense oligonucleotides, and splicing modifiers.Areas covered: This article covers the publically available data on therapeutic strategies that address the underlying cause of SMA and clinical data available on approved treatments and drugs in the pipeline.Expert opinion: The newer therapeutic options in SMA have a good safety profile and deliver a therapeutic benefit in most patients. It is essential that the recommended standards of care are delivered along with the drugs for the best outcomes. No biomarkers to distinguish responders from non-responders are available; it is important that biomarkers be identified. Early treatment is essential for the maximum efficacy of the newly available treatments.

Original publication

DOI

10.1080/14656566.2019.1704732

Type

Journal article

Journal

Expert Opin Pharmacother

Publication Date

02/2020

Volume

21

Pages

307 - 315

Keywords

Spinal muscular atrophy, antisense oligonucleotide, branaplam, gene therapy, nusinersen, risdiplam, splicing modifiers, Genetic Therapy, Humans, Muscular Atrophy, Spinal, Oligonucleotides, Antisense, Randomized Controlled Trials as Topic