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

Journal of Clinical Medicine
Sonia Messina, Maria Sframeli

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.

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Citations

Oct 25, 2020·Pediatric Pulmonology·Grace R PaulRichard Shell
Oct 30, 2020·Muscle & Nerve·Katherine D Mathews, Susan T Iannaccone
Dec 20, 2020·International Journal of Molecular Sciences·Wei ChiuHao-Min Cheng
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May 18, 2021·Frontiers in Molecular Biosciences·Olga KhorkovaClaes Wahlestedt
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Jul 2, 2021·The Journal of Pediatrics·Jenna KlotzJohn W Day
Aug 10, 2021·Journal of Biotechnology·Julian C KrappingerJulia Feichtinger
Aug 28, 2021·Journal of Perinatal Medicine·Samantha J Leonard
Sep 14, 2021·Current Pharmaceutical Design·Mathilde BeaufilsIsabelle Marty

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Methods Mentioned

BETA
SMA
SUNFISH
X-ray

Clinical Trials Mentioned

NCT02193074
NCT02292537
NCT02594124
NCT02386553
NCT02633709
NCT02913482
NCT02908685
NCT03032172
NCT03779334
NCT04256265

Software Mentioned

US
STR1VE
FIREFISH
EU
TOPAZ
ENDEAR
AP
JEWELFISH
Reldesemtiv

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