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      Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

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          Abstract

          Nusinersen is an antisense oligonucleotide drug that modulates pre-messenger RNA splicing of the survival motor neuron 2 ( SMN2) gene. It has been developed for the treatment of spinal muscular atrophy (SMA).

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          Most cited references15

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          An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients.

          To develop and evaluate an expanded version of the Hammersmith Functional Motor Scale allowing for evaluation of ambulatory SMA patients.
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            Spinal muscular atrophy--recent therapeutic advances for an old challenge.

            In the past decade, improved understanding of spinal muscular atrophy (SMA) aetiopathogenesis has brought us to a historical turning point: we are at the verge of development of disease-modifying treatments for this hitherto incurable disease. The increasingly precise delineation of molecular targets within the survival of motor neuron (SMN) gene locus has led to the development of promising therapeutic strategies. These novel avenues in treatment for SMA include gene therapy, molecular therapy with antisense oligonucleotides, and small molecules that aim to increase expression of SMN protein. Stem cell studies of SMA have provided an in vitro model for SMA, and stem cell transplantation could be used as a complementary strategy with a potential to treat the symptomatic phases of the disease. Here, we provide an overview of established data and novel insights into SMA pathogenesis, including discussion of the crucial function of the SMN protein. Preclinical evidence and recent advances from ongoing clinical trials are thoroughly reviewed. The final remarks are dedicated to future clinical perspectives in this rapidly evolving field, with a broad discussion on the comparison between the outlined therapeutic approaches and the remaining open questions.
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              Spinal muscular atrophy: a clinical and research update.

              Spinal muscular atrophy, a hereditary degenerative disorder of lower motor neurons associated with progressive muscle weakness and atrophy, is the most common genetic cause of infant mortality. It is caused by decreased levels of the "survival of motor neuron" (SMN) protein. Its inheritance pattern is autosomal recessive, resulting from mutations involving the SMN1 gene on chromosome 5q13. However, unlike many other autosomal recessive diseases, the SMN gene involves a unique structure (an inverted duplication) that presents potential therapeutic targets. Although no effective treatment for spinal muscular atrophy exists, the field of translational research in spinal muscular atrophy is active, and clinical trials are ongoing. Advances in the multidisciplinary supportive care of children with spinal muscular atrophy also offer hope for improved life expectancy and quality of life. Copyright © 2012 Elsevier Inc. All rights reserved.
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                Author and article information

                Journal
                New England Journal of Medicine
                N Engl J Med
                New England Journal of Medicine (NEJM/MMS)
                0028-4793
                1533-4406
                February 15 2018
                February 15 2018
                : 378
                : 7
                : 625-635
                Article
                10.1056/NEJMoa1710504
                29443664
                07fff8de-8495-41d2-88e3-4bff8e422f9b
                © 2018
                Product
                Self URI (article page): http://www.nejm.org/doi/10.1056/NEJMoa1710504

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