127
Views
0
CrossRef citations to date
0
Altmetric
Drug Evaluation

An evaluation of onasemnogene abeparvovec for spinal muscular atrophy (SMN1)

ORCID Icon, &
Pages 199-204 | Received 17 Aug 2021, Accepted 04 Nov 2021, Published online: 25 Nov 2021

References

  • Wang D, Gao G. State-of-the-art human gene therapy: part II. Gene therapy strategies and clinical applications. Discov Med. 2014 Sep;18(98):151–161.
  • Verhaart IEC, Robertson A, Wilson IJ, et al. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review. Orphanet J Rare Dis. 2017 Jul 4;12(1):124.
  • Sumner CJ. Molecular mechanisms of spinal muscular atrophy. J Child Neurol. 2007 Aug;22(8):979–989.
  • Munsat TL, Davies KE. International SMA consortium meeting. (26-28 June 1992, Bonn, Germany). Neuromuscul Disord. 1992;2(5–6):423–428.
  • Calucho M, Bernal S, Alias L, et al. Correlation between SMA type and SMN2 copy number revisited: an analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases. Neuromuscul Disord. 2018 Mar;28(3):208–215.
  • Finkel RS, McDermott MP, Kaufmann P, et al. Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology. 2014 Aug 26;83(9):810–817.
  • Kolb SJ, Coffey CS, Yankey JW, et al. Natural history of infantile-onset spinal muscular atrophy. Ann Neurol. 2017 Dec;82(6):883–891.
  • Sj K, Kissel JT. Spinal muscular atrophy. Neurol Clin. 2015 Nov;33(4):831–846.
  • Choudhury SR, Hudry E, Maguire CA, et al. Viral vectors for therapy of neurologic diseases. Neuropharmacology. 2017Jul1;120:63–80 8
  • Thomas CE, Ehrhardt A, Kay MA. Progress and problems with the use of viral vectors for gene therapy. Nat Rev Genet. 2003 May;4(5):346–358.
  • Bartel MA, Weinstein JR, Schaffer DV. Directed evolution of novel adeno-associated viruses for therapeutic gene delivery. Gene Ther. 2012 Jun;19(6):694–700.
  • Lefebvre S, Burglen L, Reboullet S, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995 Jan 13;80(1):155–165.
  • Foust KD, Wang X, McGovern VL, et al. Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN. Nat Biotechnol. 2010 Mar;28(3):271–274.
  • Foust KD, Nurre E, Montgomery CL, et al. Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes. Nat Biotechnol. 2009 Jan;27(1):59–65.
  • Duque SI, Arnold WD, Odermatt P, et al. A large animal model of spinal muscular atrophy and correction of phenotype. Ann Neurol. 2015 Mar;77(3):399–414.
  • Thomsen G, Burghes AHM, Hsieh C, et al. Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue. Nat Med. 2021 Oct;27(10):1701–1711.
  • Le TT, Pham LT, Butchbach ME, et al. SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN. Hum Mol Genet. 2005 Mar 15;14(6):845–857.
  • Jr M, Al-Zaidy S, Shell R, et al. Single-Dose Gene-Replacement therapy for spinal muscular atrophy. N Engl J Med. 2017 Nov 217;377(18):1713–1722.
  • Mendell JR, Al-Zaidy SA, Lehman KJ, et al. Five-Year extension results of the phase 1 START trial of onasemnogene abeparvovec in spinal muscular atrophy. JAMA Neurol. 2021 May 17;78(7):834.
  • Jw D, Rs F, Ca C, et al. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial. Lancet Neurol. 2021 Apr;20(4):284–293.
  • De Vivo DC, Bertini E, Swoboda KJ, et al. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: interim efficacy and safety results from the phase 2 NURTURE study. Neuromuscul Disord. 2019 Nov;29(11):842–856.
  • Waldrop MA, Karingada C, Storey MA, et al. Gene therapy for spinal muscular atrophy: safety and early outcomes. Pediatrics. 2020 Sep;146(3):3.
  • Ali HG, Ibrahim K, and Elsaid MF, et al. Gene therapy for spinal muscular atrophy: the Qatari experience. Gene Ther. 2021 Jul;19 doi:https://doi.org/10.1038/s41434-021-00273-7.
  • Matesanz SE, Battista V, Flickinger J, et al. Clinical experience with gene therapy in older patients with spinal muscular atrophy. Pediatr Neurol. 2021 May;118:1–5.
  • Chand D, Mohr F, McMillan H, et al. Hepatotoxicity following administration of onasemnogene abeparvovec (AVXS-101) for the treatment of spinal muscular atrophy. J Hepatol. 2021 Mar;74(3):560–566.
  • Chand DH, Zaidman C, Arya K, et al. Thrombotic microangiopathy following onasemnogene abeparvovec for spinal muscular atrophy: a case series. J Pediatr. 2021 Apr;231:265–268.
  • Friese J, Geitmann S, Holzwarth D, et al. Safety monitoring of gene therapy for spinal muscular atrophy with onasemnogene abeparvovec -A single centre experience. J Neuromuscul Dis. 2021;8(2):209–216.
  • Jw D, Jr M, Mercuri E, et al. Clinical trial and postmarketing safety of onasemnogene abeparvovec therapy. Drug Saf. 2021 Oct;44(10):1109–1119.
  • Witte D, Hartmann H, and Drube J, et al. [Thrombotic Microangiopathy (TMA) after Gene Replacemant Therapy (GRT) due to spinal muscular atrophy: case summary and recommendations for treatment]. Klin Padiatr. 2021 doi:https://doi.org/10.1055/a-1538-4936 Aug 13.
  • Kirschner J, Butoianu N, Goemans N, et al. European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy. Eur J Paediatr Neurol. 2020 Sep;28:38–43.
  • Hinderer C, Katz N, Buza EL, et al. Severe toxicity in nonhuman primates and piglets following high-dose intravenous administration of an adeno-associated virus vector expressing human SMN. Hum Gene Ther. 2018 Mar;29(3):285–298.
  • Van Alstyne M, Tattoli I, Delestree N, et al. Gain of toxic function by long-term AAV9-mediated SMN overexpression in the sensorimotor circuit. Nat Neurosci. 2021 Jul;24(7):930–940.
  • Meyer K, Ferraiuolo L, Schmelzer L, et al. Improving single injection CSF delivery of AAV9-mediated gene therapy for SMA: a dose-response study in mice and nonhuman primates. Mol Ther. 2015 Mar;23(3):477–487.
  • Hordeaux J, Buza EL, Dyer C, et al. Adeno-Associated virus-induced dorsal root ganglion pathology. Hum Gene Ther. 2020 Aug;31(15–16):808–818.
  • Nicolau S, Waldrop MA, Connolly AM, et al. Spinal muscular atrophy. Semin Pediatr Neurol. 2021 Apr;37:100878.
  • Lee BH, Collins E, Lewis L, et al. Combination therapy with nusinersen and AVXS-101 in SMA type 1. Neurology. 2019 Oct 1;93(14):640–641.
  • Matesanz SE, Curry C, Gross B, et al. Clinical course in a patient with spinal muscular atrophy type 0 treated with nusinersen and onasemnogene abeparvovec. J Child Neurol. 2020 Oct;35(11):717–723.
  • Harada Y, Rao VK, Arya K, et al. Combination molecular therapies for type 1 spinal muscular atrophy. Muscle Nerve. 2020 Oct;62(4):550–554.
  • Swoboda KJ, Prior TW, Scott CB, et al. Natural history of denervation in SMA: relation to age, SMN2 copy number, and function. Ann Neurol. 2005 May;57(5):704–712.
  • Glascock J, Sampson J, Connolly AM, et al. Revised recommendations for the treatment of infants diagnosed with spinal muscular atrophy via newborn screening who have 4 copies of SMN2. J Neuromuscul Dis. 2020;7(2):97–100.
  • Glascock J, Sampson J, Haidet-Phillips A, et al. Treatment algorithm for infants diagnosed with spinal muscular atrophy through newborn screening. J Neuromuscul Dis. 2018;5(2):145–158.
  • Lee BH, Waldrop MA, Connolly AM, et al. Time is muscle: a recommendation for early treatment for preterm infants with spinal muscular atrophy. Muscle Nerve. 2021 Aug;64(2):153–155.
  • Chiu W, Hsun YH, Chang KJ, et al. Current genetic survey and potential gene-targeting therapeutics for neuromuscular diseases. Int J Mol Sci. 2020 Dec 16;21(24):9589.
  • Zhou M, Hu Z, Qiu L, et al. Seamless genetic conversion of SMN2 to SMN1 via CRISPR/Cpf1 and single-stranded oligodeoxynucleotides in spinal muscular atrophy patient-specific induced pluripotent stem cells. Hum Gene Ther. 2018 Nov;29(11):1252–1263.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.