New Treatments in Spinal Muscular Atrophy: Positive Results and New Challenges
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 (<i>SMN1</i>) gene and a consequent de...
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doaj-cf53d87c0cf7408d974bd9d319c5f9672020-11-25T02:32:48ZengMDPI AGJournal of Clinical Medicine2077-03832020-07-0192222222210.3390/jcm9072222New Treatments in Spinal Muscular Atrophy: Positive Results and New ChallengesSonia Messina0Maria Sframeli1Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, ItalyNEuroMuscular Omnicentre (NEMO) Sud Clinical Centre, University Hospital “G. Martino”, 98125 Messina, ItalySpinal 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 (<i>SMN1</i>) gene and a consequent decrease in the <i>SMN</i> 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.https://www.mdpi.com/2077-0383/9/7/2222spinal muscular atrophytherapynusinersenrisdiplamonasemnogene abeparvovec |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Sonia Messina Maria Sframeli |
spellingShingle |
Sonia Messina Maria Sframeli New Treatments in Spinal Muscular Atrophy: Positive Results and New Challenges Journal of Clinical Medicine spinal muscular atrophy therapy nusinersen risdiplam onasemnogene abeparvovec |
author_facet |
Sonia Messina Maria Sframeli |
author_sort |
Sonia Messina |
title |
New Treatments in Spinal Muscular Atrophy: Positive Results and New Challenges |
title_short |
New Treatments in Spinal Muscular Atrophy: Positive Results and New Challenges |
title_full |
New Treatments in Spinal Muscular Atrophy: Positive Results and New Challenges |
title_fullStr |
New Treatments in Spinal Muscular Atrophy: Positive Results and New Challenges |
title_full_unstemmed |
New Treatments in Spinal Muscular Atrophy: Positive Results and New Challenges |
title_sort |
new treatments in spinal muscular atrophy: positive results and new challenges |
publisher |
MDPI AG |
series |
Journal of Clinical Medicine |
issn |
2077-0383 |
publishDate |
2020-07-01 |
description |
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 (<i>SMN1</i>) gene and a consequent decrease in the <i>SMN</i> 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. |
topic |
spinal muscular atrophy therapy nusinersen risdiplam onasemnogene abeparvovec |
url |
https://www.mdpi.com/2077-0383/9/7/2222 |
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