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      Successful weaning from mechanical ventilation in a patient with SMA type 1 treated with nusinersen

      case-report

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          Abstract

          SMA type 1 is the most severe type, characterized by early onset at <6 months of age, and rapid progression resulting in permanent assisted ventilation before 2 years of life. Supportive care was the only treatment until the approval of nusinersen, an antisense oligonucleotide drug that increases functional SMN protein levels. We present a case of successful weaning from permanent ventilation via tracheostomy with nusinersen in an infant who had been diagnosed with SMA type 1 at the age of one month and had become ventilator‐dependent from the age of 3 months.

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          Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

          Richard Finkel, Eugenio Mercuri, Basil Darras … (2017)
          New England Journal of Medicine, 377(18), 1723-1732
          Article 0 comments Cited 529 times – based on 0 reviews     Review now
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            Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice.

            Hazeem L Okunola, Adrian R. Krainer, Timothy A. Vickers … (2008)
            Survival of motor neuron 2, centromeric (SMN2) is a gene that modifies the severity of spinal muscular atrophy (SMA), a motor-neuron disease that is the leading genetic cause of infant mortality. Increasing inclusion of SMN2 exon 7, which is predominantly skipped, holds promise to treat or possibly cure SMA; one practical strategy is the disruption of splicing silencers that impair exon 7 recognition. By using an antisense oligonucleotide (ASO)-tiling method, we systematically screened the proximal intronic regions flanking exon 7 and identified two intronic splicing silencers (ISSs): one in intron 6 and a recently described one in intron 7. We analyzed the intron 7 ISS by mutagenesis, coupled with splicing assays, RNA-affinity chromatography, and protein overexpression, and found two tandem hnRNP A1/A2 motifs within the ISS that are responsible for its inhibitory character. Mutations in these two motifs, or ASOs that block them, promote very efficient exon 7 inclusion. We screened 31 ASOs in this region and selected two optimal ones to test in human SMN2 transgenic mice. Both ASOs strongly increased hSMN2 exon 7 inclusion in the liver and kidney of the transgenic animals. Our results show that the high-resolution ASO-tiling approach can identify cis-elements that modulate splicing positively or negatively. Most importantly, our results highlight the therapeutic potential of some of these ASOs in the context of SMA.
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              Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.

              Matthew Mailman, John Heinz, Audrey Papp … (2015)
              This study describes SMN1 deletion frequency, carrier studies, and the effect of the modifying SMN2 gene on the spinal muscular atrophy (SMA) phenotype. A novel allele-specific intragenic mutation panel increases the sensitivity of SMN1 testing. From 1995 to 2001, 610 patients were tested for SMN1 deletions and 399 relatives of probands have been tested for carrier status. SMN2 copy number was compared between 52 type I and 90 type III patients, and between type I and type III patients with chimeric SMN genes. A fluorescent allele-specific polymerase chain reaction (PCR) -based strategy detected intragenic mutations in potential compound heterozygotes and was used on 366 patients. Less than half of the patients tested were homozygously deleted for SMN1. A PCR-based panel detected the seven most common intragenic mutations. SMN2 copy number was significantly different between mild and severely affected patients. SMN1 molecular testing is essential for the diagnosis of SMA and allows for accurate carrier testing. Screening for intragenic mutations in SMN1 increases the sensitivity of diagnostic testing. Finally, SMN2 copy number is conclusively shown to ameliorate the phenotype and provide valuable prognostic information.
              Article 0 comments Cited 54 times – based on 0 reviews     Review now
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                Author and article information

                Contributors
                Jeehun Lee: leejeehunmd@gmail.com
                Journal
                Journal ID (nlm-ta): Ann Clin Transl Neurol
                Journal ID (iso-abbrev): Ann Clin Transl Neurol
                Journal ID (doi): 10.1002/(ISSN)2328-9503
                Journal ID (publisher-id): ACN3
                Title: Annals of Clinical and Translational Neurology
                Publisher: John Wiley and Sons Inc. (Hoboken )
                ISSN (Electronic): 2328-9503
                Publication date (Electronic): 22 February 2021
                Publication date Collection: April 2021
                Volume: 8
                Issue: 4 ( doiID: 10.1002/acn3.v8.4 )
                Pages: 964-967
                Affiliations
                [ 1 ] Department of Pediatrics Samsung Medical Center Sungkyunkwan University School of Medicine Seoul Korea
                [ 2 ] Department of Pediatrics CHA Gangnam Medical Center CHA University Seoul Korea
                Author notes
                [*] [* ] Correspondence

                Jeehun Lee, Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon‐ro, Gangnam‐gu, Seoul 06351, Korea. Tel: +82‐2‐3410‐0910; Fax: +82‐2‐3410‐0043; E‐mail: jhlee0101@ 123456skku.edu ; leejeehunmd@ 123456gmail.com

                Author information
                https://orcid.org/0000-0002-8456-684X
                Article
                Publisher ID: ACN351321
                DOI: 10.1002/acn3.51321
                PMC ID: 8045896
                PubMed ID: 33616311
                SO-VID: abf786c9-fbe4-4f26-b4b1-6c6ab9038090
                Copyright © © 2021 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association
                License:

                This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.

                History
                Date revision received : 31 January 2021
                Date received : 31 December 2020
                Date accepted : 02 February 2021
                Page count
                Figures: 0, Tables: 2, Pages: 4, Words: 2537
                Categories
                Subject: Case Study
                Subject: Case Study
                Custom metadata
                source-schema-version-number 2.0
                cover-date April 2021
                details-of-publishers-convertor Converter:WILEY_ML3GV2_TO_JATSPMC version:6.0.2 mode:remove_FC converted:14.04.2021

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