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

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Giuseppe VitaSonia Messina

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. Othe...Continue Reading

References

Oct 22, 2008·Lancet·Ans T van der Ploeg, Arnold J J Reuser
Nov 18, 2009·Brain : a Journal of Neurology·E MatthewsUNKNOWN CINCH Investigators
Feb 22, 2011·Respiratory Care·John R Bach, Daniel Martinez
Oct 4, 2012·JAMA : the Journal of the American Medical Association·Jeffrey M StatlandUNKNOWN Consortium for Clinical Investigation of Neurologic Channelopathies
Nov 29, 2012·The Journal of Biological Chemistry·John A MagaJonathan H LeBowitz
Jun 19, 2013·Brain : a Journal of Neurology·Jaya R TrivediUNKNOWN CINCH Consortium
Jun 28, 2014·EMBO Molecular Medicine·Caterina GaroneMichio Hirano
Jul 24, 2014·Molecular Therapy : the Journal of the American Society of Gene Therapy·Giancarlo ParentiGeneroso Andria
Jul 30, 2014·Future Medicinal Chemistry·Giancarlo ParentiGeneroso Andria
Sep 5, 2014·Current Opinion in Neurology·Ros QuinlivanMichael G Hanna
Nov 2, 2014·Molecular Therapy : the Journal of the American Society of Gene Therapy·Kathrin MeyerBrian K Kaspar
Nov 4, 2015·Molecular Therapy. Nucleic Acids·Delphine LaustriatSandrine Baghdoyan
Nov 18, 2015·Annals of Neurology·Jerry R MendellUNKNOWN Eteplirsen Study Group and Telethon Foundation DMD Italian Network
May 6, 2016·Orphanet Journal of Rare Diseases·Constanze KlugKlaus H Nagels
May 6, 2016·The Cochrane Database of Systematic Reviews·Emma MatthewsAdnan Y Manzur
Aug 28, 2016·Neuromuscular Disorders : NMD·Paolo BetticaEugenio Mercuri
Sep 26, 2016·Revue neurologique·M De AntonioUNKNOWN French Myotonic Dystrophy Clinical Network
Jan 28, 2017·Molecular Therapy : the Journal of the American Society of Gene Therapy·Ellen L van AgtmaalBé Wieringa
Mar 21, 2017·Annals of Neurology·Carlos Lopez-GomezMichio Hirano
Mar 28, 2017·Molecular Therapy. Methods & Clinical Development·Sang-Oh HanDwight Koeberl
Apr 4, 2017·Molecular Therapy : the Journal of the American Society of Gene Therapy·Cy A Stein, Daniela Castanotto
Apr 4, 2017·Muscle & Nerve·Matthew ElvermanMartin K Childers
Apr 11, 2017·Neuromuscular Disorders : NMD·Richard S FinkelUNKNOWN ENMC SMA Workshop Study Group
Apr 30, 2017·Contemporary Clinical Trials·Michela GuglieriRobert C Griggs
Jun 19, 2017·Molecular Therapy. Nucleic Acids·Dominic JauvinJack Puymirat
Jul 16, 2017·Neurology·W David ArnoldJohn T Kissel
Aug 20, 2017·Orphanet Journal of Rare Diseases·Julio López-BastidaJuan Oliva-Moreno
Oct 21, 2017·Brain : a Journal of Neurology·Grete AndersenJohn Vissing
Oct 27, 2017·Methods in Molecular Biology·Jean K Mah
Nov 2, 2017·The New England Journal of Medicine·Jerry R MendellBrian K Kaspar
Nov 2, 2017·The New England Journal of Medicine·Richard S FinkelUNKNOWN ENDEAR Study Group
Nov 15, 2017·Neuromuscular Disorders : NMD·Sonia MessinaUNKNOWN Italian EAP working Group
Nov 17, 2017·Italian Journal of Pediatrics·Denise CassandriniUNKNOWN Italian Network on Congenital Myopathies
Dec 1, 2017·Science Translational Medicine·Francesco PuzzoFederico Mingozzi

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Citations

Feb 28, 2019·Investigative Ophthalmology & Visual Science·Jurgen SergeysTine Van Bergen
Jun 22, 2019·Expert Review of Clinical Pharmacology·Federica RicciTiziana Mongini
Feb 9, 2020·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Antonio Trabacca
Dec 8, 2019·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Giovanni IolasconUNKNOWN AIM (Italian Association of Myology), AIPO (Italian Association of Hospital Pulmonologists), SIRN (Italian Society of Neuror
Apr 5, 2020·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Gian Luca VitaGiuseppe Vita
Feb 18, 2020·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Antonio Federico
Mar 18, 2020·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Antonio Federico
Jan 14, 2020·Current Genomics·Giulia Gentile, Sebastiano Cavallaro
Dec 11, 2019·Journal of Clinical Medicine·Gabriella Esposito, Antonella Carsana
Oct 20, 2020·Journal of Neuromuscular Diseases·Marisa CappellaMaria Grazia Biferi
Mar 1, 2020·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Gian Luca Vita, Giuseppe Vita
Sep 16, 2021·Journal of Endocrinological Investigation·Antonino CatalanoSonia Messina

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