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Cited by 337Neurogenetic and Muscular Disorders ResearchVirus-based gene therapy researchLysosomal Storage Disorders Research

The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.

Onasemnogene Abeparvovec: First Global Approval

Hoy, Sheridan M.·2019·Drugs
DOI 10.1007/s40265-019-01162-5
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Abstract

Onasemnogene abeparvovec (onasemnogene abeparvovec-xioi; formerly AVXS-101; ZOLGENSMA ® ) is an adeno-associated viral vector-based gene therapy designed to deliver a functional copy of the human survival motor neuron (SMN) gene to the motor neuron cells of patients with spinal muscular atrophy (SMA). It has been developed by AveXis, a Novartis company, and was approved in May 2019 in the USA for the treatment of paediatric patients aged 14 vector genomes per kg of bodyweight, administered as a single intravenous infusion over 60 min. Regulatory assessments for this formulation of onasemnogene abeparvovec are underway in the EU and Japan; an intrathecal formulation is currently undergoing clinical development in the USA. This article summarizes the milestones in the development of onasemnogene abeparvovec leading to this first approval for the treatment of paediatric patients aged < 2 years with SMA and bi-allelic mutations in SMN1.

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Crossref · 10.1007/s40265-019-01162-5

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Citations

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Research works printed but not linked: 15

  1. Groen EJN, Talbot K, Gillingwater TH. Advances in therapy for spinal muscular atrophy: promises and challenges. Nat Rev Neurol. 2018;14(4):214–24. · DOI
  2. Shorrock HK, Gillingwater TH, Groen EJN. Overview of current drugs and molecules in development for spinal muscular atrophy therapy. Drugs. 2018;78(3):293–305. · DOI
  3. Feldkötter M, Schwarzer V, Wirth R, et al. Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet. 2002;70(2):358–68. · DOI
  4. Bevan AK, Duque S, Foust KD, et al. Systemic gene delivery in large species for targeting spinal cord, brain, and peripheral tissues for pediatric disorders. Mol Ther J Am Soc Gene Ther. 2011;19(11):1971–80. · DOI · Paper page
  5. Foust K, Meyer K, Likhite S, et al. Extensive dose ranging study of AVXS-101 in the severe D7 SMA mouse model [abstract no. 435]. Mol Ther. 2017;25(5 Suppl 1):200–1.
  6. Finkel RS, McDermott MP, Kaufmann P, et al. Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology. 2014;83(9):810–7. · DOI
  7. Lowes LP, Alfano LN, Arnold WD, et al. Impact of age and motor function in a phase 1/2A study of infants with SMA type 1 receiving single-dose gene replacement therapy. Pediatr Neurol. 2019. https://doi.org/10.1016/j.pediatrneurol.2019.05.005 . · DOI · Paper page
  8. Dabbous O, Maru B, Jansen JP, et al. Survival, motor function, and motor milestones: comparison of AVXS-101 relative to nusinersen for the treatment of infants with spinal muscular atrophy type 1. Adv Ther. 2019;36(5):1164–76. · DOI
  9. Malone DC, Dean R, Arjunji R, et al. Cost-effectiveness analysis of using onasemnogene abeparvocec (AVXS-101) in spinal muscular atrophy type 1 patients. J Mark Access Health Policy. 2019;7(1):1601484. · DOI
  10. Mendell JR, Al-Zaidy S, Shell R, et al. AVXS-101 phase 1 gene replacement therapy clinical trial in spinal muscular atrophy type 1 (SMA1): 24-month event-free survival and achievement of developmental milestones [abstract no. OR005]. Hum Gene Ther. 2018;29(12):A22.
  11. Al-Zaidy S, Pickard AS, Kotha K, et al. Health outcomes in spinal muscular atrophy type 1 following AVXS-101 gene replacement therapy. Pediatr Pulmonol. 2019;54(2):179–85. · DOI · Paper page
  12. Mendell JR, Lehman KJ, McColly M, et al. AVXS-101 gene-replacement therapy (GRT) in spinal muscular atrophy type 1 (SMA1): long-term follow-up from the phase 1 clinical trial [abstract no. S25.006 plus presentation]. Neurology. 2019;92(15 Suppl). · DOI
  13. Day JW, Chiriboga CA, Crawford TO, et al. AVXS-101 gene-replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): pivotal phase 3 study (STR1VE) update [abstract no. P1.6-058 plus poster]. Neurology. 2019;92(15 Suppl). · DOI
  14. Finkel RS, Day JW, Darras BT, et al. Phase 1 study of intrathecal administration of AVXS-101 gene-replacement therapy (GRT) for spinal muscular atrophy type 2 (SMA2) (STRONG) [abstract no. P1.6-059 plus poster]. Neurology. 2019;92(15 Suppl). · DOI
  15. Schultz M, Swoboda K, Farrar M, et al. AVXS-101 gene-replacement therapy (GRT) in presymptomatic spinal muscular atrophy (SMA): study update [abstract no. P1.6-057 plus poster]. Neurology. 2019;92(15 Suppl). · DOI

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Metadata

Authors
Hoy, S. M.
Affiliations
Springer Nature (New Zealand) (NZ)
Corresponding author
Hoy, Sheridan M.
Venue
Drugs
Publisher
Springer Science and Business Media LLC
Published
2019-07
Volume
79
Issue
11
Pages
1255-1262
ISSN
  • 0012-6667 (ISSN-L)
  • 1179-1950
DOI
10.1007/s40265-019-01162-5
OpenAlex
W2955699452
Cited by
337
References
0
Citations by year
2026: 31 · 2025: 36 · 2024: 54 · 2023: 42 · 2022: 38 · 2021: 68 · 2020: 58 · 2019: 9
FWCI
23.71
Type
journal article
Language
en
Open access
closed
Licence
Locations
  • Drugs (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Genetics (clinical) › Neurogenetic and Muscular Disorders Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
  • Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
Keywords
onasemnogene abeparvovec, Zolgensma, spinal muscular atrophy, gene therapy, adeno-associated virus vectors, SMN1, survival motor neuron protein, pediatric patients, regulatory approval, drug development milestones
MeSH terms
Dependovirus, Genetic Vectors, Humans, Infant, Infant, Newborn, Infusions, Intravenous, Motor Neurons, Muscular Atrophy, Spinal, Mutation, United States, United States Food and Drug Administration, Genetic Therapy, Drug Approval, SMN Complex Proteins

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