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Review
. 2020 Jul 13;9(7):2222.
doi: 10.3390/jcm9072222.

New Treatments in Spinal Muscular Atrophy: Positive Results and New Challenges

Sonia Messina  1   2 , Maria Sframeli  2
Affiliations
Review

New Treatments in Spinal Muscular Atrophy: Positive Results and New Challenges

Sonia Messina et al. J Clin Med. .

Abstract

Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases with progressive weakness of skeletal and respiratory muscles, leading to significant disability. The disorder is caused by mutations in the survival motor neuron 1 (SMN1) gene and a consequent decrease in the SMN protein leading to lower motor neuron degeneration. Recently, Food and Drug Administration (FDA) and European Medical Agency (EMA) approved the antisense oligonucleotide nusinersen, the first SMA disease-modifying treatment and gene replacement therapy by onasemnogene abeparvovec. Encouraging results from phase II and III clinical trials have raised hope that other therapeutic options will enter soon in clinical practice. However, the availability of effective approaches has raised up ethical, medical and financial issues that are routinely faced by the SMA community. This review covers the available data and the new challenges of SMA therapeutic strategies.

Keywords: nusinersen; onasemnogene abeparvovec; risdiplam; spinal muscular atrophy; therapy.

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Conflict of interest statement

S.M. is member of advisory boards and has consulted for Avexis, Roche, Biogen Idec. She was also principal investigator for trials funded by Ionis Pharmaceuticals. M.S. declares no conflict of interest.

Figures

Figure 1
Figure 1
Main available therapeutic approaches and their mechanisms of action. SMN1 = survival motor neuron 1; SMN2 = survival motor neuron 2; SMN = survival motor neuron.
See this image and copyright information in PMC

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