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Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle.

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Title: Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle.
Authors: Vita, Giuseppe (AUTHOR), Vita, Gian Luca (AUTHOR), Musumeci, Olimpia (AUTHOR), Rodolico, Carmelo (AUTHOR), Messina, Sonia (AUTHOR)
Source: Neurological Sciences. Apr2019, Vol. 40 Issue 4, p671-681. 11p. 1 Chart.
Subjects: Glycogen storage disease type II, Motor neuron diseases, Neuromuscular diseases, United States. Food & Drug Administration, Genetic disorders, Duchenne muscular dystrophy, Skeletal muscle, Treatment of Duchenne muscular dystrophy, Mitochondrial pathology, Muscle disease treatment, Nucleotides, Treatment of spinal muscular atrophy, Heterocyclic compounds, Muscle relaxants, Carrier proteins, Gene therapy, Myotonia atrophica, Inborn errors of carbohydrate metabolism, Therapeutics
Abstract: This is the second part of a two-part document intended to discuss recent therapeutic progresses in genetic neuromuscular disorders. The present review is for diseases of motor neuron and skeletal muscle, some of which reached recently the most innovative therapeutic approaches. Nusinersen, an SMN2 mRNA splicing modifier, was approved as first-ever therapy of spinal muscular atrophy (SMA) by FDA in 2016 and by EMA in 2017. The orally administered small-molecule risdiplam, which increases SMN protein levels similarly but also in peripheral organs, is tested in ongoing phase 2 and 3 trials. After positive results with phase 1 treatment with AAV9-SMN, the first gene therapy for SMA, a phase 3 clinical trial is ongoing. Ataluren is the first approved drug for Duchenne muscular dystrophy (DMD) patients with premature stop codon mutations and its indication has been recently extended since the age of 2 years. Exon skipping technology was and is currently tested in many phase 3 trials, and eteplirsen received a conditional approval by FDA for patients amenable to exon 51 skipping, but not by EMA. Many other compounds with different mechanisms of action are now tested in DMD by phase 2 and 3 trials, including phase 1 gene therapy. Other innovative approaches are under investigation, i.e., gene therapy in X-linked myotubular myopathy and Pompe disease, and antisense oligonucleotides in myotonic dystrophy type 1. Positive evidences are discussed about lamotrigine and ranolazine in non-dystrophic myotonias, chaperons in Pompe disease, and nucleosides in mitochondrial DNA depletion induced by thymidine kinase 2 deficiency. [ABSTRACT FROM AUTHOR]
Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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  Data: Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle.
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  Data: <searchLink fieldCode="AR" term="%22Vita%2C+Giuseppe%22">Vita, Giuseppe</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Vita%2C+Gian+Luca%22">Vita, Gian Luca</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Musumeci%2C+Olimpia%22">Musumeci, Olimpia</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Rodolico%2C+Carmelo%22">Rodolico, Carmelo</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Messina%2C+Sonia%22">Messina, Sonia</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22Neurological+Sciences%22">Neurological Sciences</searchLink>. Apr2019, Vol. 40 Issue 4, p671-681. 11p. 1 Chart.
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  Data: <searchLink fieldCode="DE" term="%22Glycogen+storage+disease+type+II%22">Glycogen storage disease type II</searchLink><br /><searchLink fieldCode="DE" term="%22Motor+neuron+diseases%22">Motor neuron diseases</searchLink><br /><searchLink fieldCode="DE" term="%22Neuromuscular+diseases%22">Neuromuscular diseases</searchLink><br /><searchLink fieldCode="DE" term="%22United+States%2E+Food+%26+Drug+Administration%22">United States. Food & Drug Administration</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+disorders%22">Genetic disorders</searchLink><br /><searchLink fieldCode="DE" term="%22Duchenne+muscular+dystrophy%22">Duchenne muscular dystrophy</searchLink><br /><searchLink fieldCode="DE" term="%22Skeletal+muscle%22">Skeletal muscle</searchLink><br /><searchLink fieldCode="DE" term="%22Treatment+of+Duchenne+muscular+dystrophy%22">Treatment of Duchenne muscular dystrophy</searchLink><br /><searchLink fieldCode="DE" term="%22Mitochondrial+pathology%22">Mitochondrial pathology</searchLink><br /><searchLink fieldCode="DE" term="%22Muscle+disease+treatment%22">Muscle disease treatment</searchLink><br /><searchLink fieldCode="DE" term="%22Nucleotides%22">Nucleotides</searchLink><br /><searchLink fieldCode="DE" term="%22Treatment+of+spinal+muscular+atrophy%22">Treatment of spinal muscular atrophy</searchLink><br /><searchLink fieldCode="DE" term="%22Heterocyclic+compounds%22">Heterocyclic compounds</searchLink><br /><searchLink fieldCode="DE" term="%22Muscle+relaxants%22">Muscle relaxants</searchLink><br /><searchLink fieldCode="DE" term="%22Carrier+proteins%22">Carrier proteins</searchLink><br /><searchLink fieldCode="DE" term="%22Gene+therapy%22">Gene therapy</searchLink><br /><searchLink fieldCode="DE" term="%22Myotonia+atrophica%22">Myotonia atrophica</searchLink><br /><searchLink fieldCode="DE" term="%22Inborn+errors+of+carbohydrate+metabolism%22">Inborn errors of carbohydrate metabolism</searchLink><br /><searchLink fieldCode="DE" term="%22Therapeutics%22">Therapeutics</searchLink>
– Name: Abstract
  Label: Abstract
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  Data: This is the second part of a two-part document intended to discuss recent therapeutic progresses in genetic neuromuscular disorders. The present review is for diseases of motor neuron and skeletal muscle, some of which reached recently the most innovative therapeutic approaches. Nusinersen, an SMN2 mRNA splicing modifier, was approved as first-ever therapy of spinal muscular atrophy (SMA) by FDA in 2016 and by EMA in 2017. The orally administered small-molecule risdiplam, which increases SMN protein levels similarly but also in peripheral organs, is tested in ongoing phase 2 and 3 trials. After positive results with phase 1 treatment with AAV9-SMN, the first gene therapy for SMA, a phase 3 clinical trial is ongoing. Ataluren is the first approved drug for Duchenne muscular dystrophy (DMD) patients with premature stop codon mutations and its indication has been recently extended since the age of 2 years. Exon skipping technology was and is currently tested in many phase 3 trials, and eteplirsen received a conditional approval by FDA for patients amenable to exon 51 skipping, but not by EMA. Many other compounds with different mechanisms of action are now tested in DMD by phase 2 and 3 trials, including phase 1 gene therapy. Other innovative approaches are under investigation, i.e., gene therapy in X-linked myotubular myopathy and Pompe disease, and antisense oligonucleotides in myotonic dystrophy type 1. Positive evidences are discussed about lamotrigine and ranolazine in non-dystrophic myotonias, chaperons in Pompe disease, and nucleosides in mitochondrial DNA depletion induced by thymidine kinase 2 deficiency. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
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  Data: <i>Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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RecordInfo BibRecord:
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    Identifiers:
      – Type: doi
        Value: 10.1007/s10072-019-03764-z
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      – Code: eng
        Text: English
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      Pagination:
        PageCount: 11
        StartPage: 671
    Subjects:
      – SubjectFull: Glycogen storage disease type II
        Type: general
      – SubjectFull: Motor neuron diseases
        Type: general
      – SubjectFull: Neuromuscular diseases
        Type: general
      – SubjectFull: United States. Food & Drug Administration
        Type: general
      – SubjectFull: Genetic disorders
        Type: general
      – SubjectFull: Duchenne muscular dystrophy
        Type: general
      – SubjectFull: Skeletal muscle
        Type: general
      – SubjectFull: Treatment of Duchenne muscular dystrophy
        Type: general
      – SubjectFull: Mitochondrial pathology
        Type: general
      – SubjectFull: Muscle disease treatment
        Type: general
      – SubjectFull: Nucleotides
        Type: general
      – SubjectFull: Treatment of spinal muscular atrophy
        Type: general
      – SubjectFull: Heterocyclic compounds
        Type: general
      – SubjectFull: Muscle relaxants
        Type: general
      – SubjectFull: Carrier proteins
        Type: general
      – SubjectFull: Gene therapy
        Type: general
      – SubjectFull: Myotonia atrophica
        Type: general
      – SubjectFull: Inborn errors of carbohydrate metabolism
        Type: general
      – SubjectFull: Therapeutics
        Type: general
    Titles:
      – TitleFull: Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle.
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              Text: Apr2019
              Type: published
              Y: 2019
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