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

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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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1 retracted

RETRACTED ARTICLE: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN
Foust, K. D., Wang, X., McGovern, V. L., Braun, L., Bevan, A. K., Haidet, A. M., Le, T. T., Morales, P. R., Rich, M. M., Burghes, A. H. M., et al. (2010) · Nature Biotechnology · doi:10.1038/nbt.1610 · Cited by 688
Retracted
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
Mendell, J. R., Al-Zaidy, S., Shell, R., Arnold, W. D., Rodino-Klapac, L. R., Prior, T. W., Lowes, L., Alfano, L., Berry, K., Church, K., et al. (2017) · New England Journal of Medicine · doi:10.1056/nejmoa1706198 · Cited by 2,381
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Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review
Verhaart, I. E. C., Robertson, A., Wilson, I. J., Aartsma-Rus, A., Cameron, S., Jones, C. C., Cook, S. F., & Lochmüller, H. (2017) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-017-0671-8 · Cited by 739

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Shaputkin, E. D., Nifant'ev, I. E., & Ivchenko, P. V. (2026) · Russian Chemical Reviews · doi:10.59761/rcr5222
Immune cell–specific SMN expression and sustained immune alterations in treated spinal muscular atrophy
Tapken, I., Rahmel-Stein, K., Ehlers, C., Cieri, F., Detering, N. T., Schüning, T., Bjelica, B., Mindermann, C., Neuhoff, S., Schmitt, L.-I., et al. (2026) · Journal of Clinical Investigation · doi:10.1172/jci203540
“Intravenously administered adenovirus-associated ( AAV9 ) gene replacement therapy with onasemnogene abeparvovec-xioi has been approved for children with type I SMA, biallelic mutations in the SMN1 gene, and maximal 3 SMN2 gene copies (37).”
Evolution of therapy monogenic orphan diseases and regulatory aspects of orphan medicinal products development
Poteryaev, D. A., & Khamitov, R. (2026) · Biological Products. Prevention, Diagnosis, Treatment · doi:10.30895/2221-996x-2026-26-2-127-143
Advanced therapy medicinal products for local treatment using new delivery methods
Zaradzki, M., Soethoff, J. P., Sauer, S., Remes, A. K., Müller, O. J., Wagner, A. H., & Morath, B. (2026) · Biochemical Pharmacology · doi:10.1016/j.bcp.2026.118268
Comparative Transduction Profiling of Four Intravenously Delivered AAV Capsids in the Neonatal Murine Nervous System
Gao, H. X., & Xu, T. (2026) · Biomedicines · doi:10.3390/biomedicines14071426
“In 2019, the AAV9-based drug onasemnogene abeparvovec (Zolgensma ® ) was approved for the treatment of spinal muscular atrophy [10].”
Emerging therapeutic strategies and clinical management of spinal muscular atrophy
DAS, S. M., Mishra, A., & Palei, N. N. (2026) · Discover Neuroscience · doi:10.1186/s13064-026-00280-7 · Cited by 1
“15 infants with SMA type 1 were included in the phase I START study (NCT02122952), which showed 100% survival from long term ventilatory support by 20 months of age and significant gains in motor milestones, especially in the high-dose cohort [65, 66].”
Zolgensma in Spinal Muscular Atrophy: Clinical Value, Economic Challenges and Indian Access Case Studies
Begum, S. A., Kumar, P. R., Tanweer, S. A. S., Phalgun, R. H. S., Teja, M. R., Nath, B. J., & Singh, R. (2026) · International Journal of Drug Delivery Technology · doi:10.25258/ijddt.16.44s.57
“Zolgensma, however, offers a unique approach by delivering a functional copy of the SMN1 gene through viral-vector-mediated gene therapy, potentially after a single intravenous infusion [10].”
Comparative Analysis of rAAV Production from Plasmid-Encoded Versus Chromosomally Integrated rAAV Transgene in HEK293 Cells
Toth, M., Rempe, A., Smesnik, G., Reithofer, M., Dürauer, A., & Grabherr, R. (2026) · International Journal of Molecular Sciences · doi:10.3390/ijms27125538
Intracellular trafficking and nuclear compartmentalization of AAV gene delivery
Hutchinson, T. E., Singh, R. E., Oliver, J. Y., Davis, A., Potter, M., Hsi, J., Mietzsch, M., Bennett, A. D., & McKenna, R. (2026) · Molecular Therapy Advances · doi:10.1016/j.omta.2026.201770
Insect-Cell-Produced AAV2 Vectors Activate Myeloid Innate Immune Response Featuring NETosis.
Liu, X., Zhou, Y.-F., Tang, Z., Li, W.-J., Wei, S.-S., & Han, K. (2026) · Molecular Pharmaceutics · doi:10.1021/acs.molpharmaceut.5c01772
Extracellular vesicles as biomarkers of disease progression and therapeutic response in patients with spinal muscular atrophy
Poulin, K. L., René, C. A., Smith, I. C., Vacratsis, P. O., Burger, D. E., McMillan, H. J., Kothary, R., Perkins, T. J., Warman‐Chardon, J., & Parks, R. J. (2026) · Molecular Therapy Advances · doi:10.1016/j.omta.2026.201757
Risdiplam therapy in adult patients with Spinal muscular Atrophy (SMA). A 24-month-real-world experience at a single muscular centre
Cesarone, E., Picillo, E., Scutifero, M., Passamano, L., & Nigro, V. (2026) · Acta myologica · doi:10.36185/2532-1900-2280
“…to three copies of the SMN2 gene, while the FDA approved it for the treatment of pediatric patients under two years of age; 3) Risdiplam (Evrysdi®) 8 , which was the last therapy approved by the EMA, is indicated for the treatment of SMA patients aged two months and older, having one to four…”
Refining functional phenotypes in an international cohort of untreated paediatric type 2 and 3 SMA patients using the Revised Hammersmith Scale.
Milev, E., Stimpson, G., Ramsey, D., Mayhew, A., Scoto, M., Baranello, G., Lofra, R. M., O'Reilly, E., Amy, W., Main, M., et al. (2026) · Neuromuscular Disorders · doi:10.1016/j.nmd.2026.106336
Adeno-associated virus-induced neurotoxicity is prevented by CpG depletion
Dunn, C. E., Carvajal, B. V., Ma, J., Castaneda-Hernandez, G., Nguyen, A. V., Jung, C., Suriano, C. M., & Boulanger, L. M. (2026) · Molecular Therapy Advances · doi:10.1016/j.omta.2026.201703
“33 vector significantly reduced transgene-specific CD8 + T cells and expression of CD4 + and MHCII in transduced skeletal muscle.”
Neurofibromatosis type 2-related schwannomatosis: an update
Lightner, D. D. (2026) · Rare Disease and Orphan Drugs Journal · doi:10.20517/rdodj.2025.11 · Cited by 1
Preventing spinal muscular atrophy through the national premarital screening program in Türkiye: an economic comparison with treatment costs
Dur, G., Tecirli, G., & Okumuş, N. (2025) · Turkish Journal of Medical Sciences · doi:10.55730/1300-0144.6169
“Nusinersen (Spinraza) is an antisense oligonucleotide that was first approved in 2016 2 by the FDA [8]; onasemnogene abeparvovec-xioi (Zolgensma) is a gene replacement therapy [9]; and risdiplam (Evrysdi) is a small molecule modulator of SMN2 splicing [10].”
Adeno-Associated Virus-Induced Neurotoxicity is Prevented by CpG DepletionPreprint
Dunn, C. E., Carvajal, B. V., Ma, J., Castañeda-Hernandez, G., Nguyen, A., Jung, C., & Boulanger, L. M. (2025) · bioRxiv · doi:10.1101/2025.10.24.684017
“…research, and is currently the basis of multiple FDA-approved CNS gene therapies, including Luxturna, a treatment for RPE65 mutation-associated retinal dystrophy, Zolgensma, a treatment for spinal motor atrophy, and Kebilidi, a treatment for aromatic L-amino acid decarboxylase deficiency 33–35 .”
Experience of using onasemnogen abeparvovek in children with spinal muscular atrophy 5q with 2 or 3 copies of the SMN2 gene in a multidisciplinary center in Saint Petersburg
Shchugareva, L. M., Koroleva, V. D., & Васильевна, П. О. (2025) · Neuromuscular Diseases · doi:10.17650/2222-8721-2025-15-2-10-19 · Cited by 1
Rehabilitation research in spinal muscular atrophy: a call to action
Lilien, C., Nelson, L., Edel, L., Forrest, D., Estilow, T., McGrattan, K., Duong, T., & Coratti, G. (2025) · Journal of Neuromuscular Diseases · doi:10.1177/22143602251364945
Precision medicine and rare diseases in pediatrics
Al-Hajjar, S. H. (2025) · International Journal of Pediatrics and Adolescent Medicine · doi:10.4103/ijpam.ijpam_113_25
Late diagnosis of spinal muscular atrophy, primary symptoms of the disease according to the patient registry of the SMA Families Foundation
Artemyeva, S., Papina, Y. O., & Germanenko, O. (2025) · Meditsinskiy sovet = Medical Council · doi:10.21518/ms2024-531
Utilization of phase I studies for target validation of first-in-class drugs
Kawabe, Y., Himori, M., Watanabe, Y., Davis, J., & Hamada, H. (2024) · Drug Discovery Today · doi:10.1016/j.drudis.2024.104200
Clinical outcomes of Onasemnogene Abeparvovec use in Spinal Muscular Atrophy – evaluating efficacy and therapeutic potential of gene theraphy
Daniek, J., Skorupa, M., Łach, A., Cytlau, B., & Gil, K. (2024) · Journal of Pre-Clinical and Clinical Research · doi:10.26444/jpccr/193633
“I Onasemnogene Abeparvovec (Zolgensma®) is an FDA-approved gene transfer therapy indicated for the treatment of all types of SMA in patients under two years of age at the time of administration [10].”
Background
Zdravljenje prvih bolnikov z gensko nadomestno terapijo v Sloveniji; otroka s spinalno mišično atrofijo, ki sta se zdravila z zdravilom onasemnogene abeparvovek
Vrščaj, E., Golli, T., Loboda, T., Piskar, A., Homan, M., & Osredkar, D. (2024) · Slovenian Medical Journal · doi:10.6016/zdravvestn.3478
Enhancing In Vitro SMN Protein Expression and Cell Viability through Xeno-Nucleic Acid-Based ASOs in Spinal Muscular Atrophy
Kilic, O., Babar, H., Inci, C., Odabas, S., Yelgen, G., Oltan, S., Kulac, S., & Taştan, C. (2023) · bioRxiv · doi:10.1101/2023.08.21.552929
Cryo-EM Structure of Adeno-associated virus-4 at 2.2 Å resolution
Zane, G., Silveria, M., Meyer, N., White, T., & Chapman, M. (2022) · bioRxiv · doi:10.1101/2022.01.12.476110
Study of the availability of gene therapeutic drugs in the Russian Federation
Koshechkin, K., Romanov, P. A., Mokhov, A., & Khokhlov, A. (2021) · Remedium · doi:10.21518/1561-5936-2021-3-69-75
Challenges Posed by Gene Manipulations and Sport Performance
Cohen‐Haguenauer, O. (2021) · Springer eBooks · doi:10.1007/978-3-030-79293-0_4 · Cited by 3
NOVA1 Promotes SMN2 Exon 7 Splicing via Binding the UCAC Motif and Increases SMN Protein ExpressionPreprint
Du, L.-L., Sun, J., Chen, Z., Shao, Y.-X., & Wu, L.-C. (2021) · Research Square · doi:10.21203/rs.3.rs-798194/v1
“In addition, Zolgensma, the rst gene therapy drug used to treat spinal muscular atrophy in children under 2 years, was also approved by the FDA for clinical treatment in May 2019 [27].”
Method
Corrigendum: Case Report: Whole-Exome Sequencing With MLPA Revealed Variants in Two Genes in a Patient With Combined Manifestations of Spinal Muscular Atrophy and Duchenne Muscular Dystrophy
Xia, Y., Feng, Y., Xu, L., Chen, X.-Y., Gao, F., & Mao, S. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.684042
“Nevertheless, Zolgensma is currently indicated for the treatment of patients who have SMA type I or up to 3 copies of the SMN2 gene, and the most crucial issue is whether the safety of high-dose virus vector and systemic administration requires further evaluation (Hoy, 2019).”
Background
Management of genetic diseases: Present and future
Abarca-Barriga, H. H., Trubnykova, M., & Castro‐Mujica, M. D. C. (2021) · Revista de la Facultad de Medicina Humana · doi:10.25176/rfmh.v21i2.3626 · Cited by 7
Kezdeti tapasztalataink spinalis muscularis atrophiában szenvedő gyermekek intravénás génterápiájával
Mikos, B., Gergely, A., Balázsfi, R., Bányász, E., Gyömörei, B., Hantos, M., Czelecz, J., Jakus, R., Kárász, H., Zilahy, M., et al. (2020) · Orvosi Hetilap · doi:10.1556/650.2020.31890
“Betegeinknél a későbbiekben megfigyelt gyarapodás hátterében a szteroid mellékhatásán túl a tápláltsági állapot folyamatos követése alapján hetenként korrigált táplálástámogatásnak is szerepe lehetett amellett, hogy szakirodalmi adatok igazolják a génterápia eredményeként javuló nyelésés önálló táplálkozási képesség e…”
Organische Chemie
Andexer, J. N., Beifuß, U., Beuerle, F., Brasholz, M., Breinbauer, R., Ernst, M., Greb, J., Gulder, T. A. M., Hüttel, W., Kath‐Schorr, S., et al. (2020) · Nachrichten aus der Chemie · doi:10.1002/nadc.20204095515
Molecular docking and dynamics simulation studies to identify the phytochemicals as lead molecules against the survival motor neuron 1 (SMN1) protein of spinal muscular atrophy
Bagga, P., Singh, S., Kumari, I., & Swargam, S. (2025) · Medicinal Plants - International Journal of Phytomedicines and Related Industries · doi:10.5958/0975-6892.2025.00060.0
Gene Therapy
Shahryari, A., Nazari, Z., Jazi, M. S., Hashemi-Shahraki, F., Wißmiller, K., Xu, W., Burtscher, I., & Lickert, H. (2022) · Elsevier eBooks · doi:10.1016/b978-0-12-820472-6.00213-9 · Cited by 2
MIP as Drug Delivery Systems for Special Application
Ma, L., & Liu, Z. (2021) · Springer eBooks · doi:10.1007/978-981-16-0227-6_9

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: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
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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Onasemnogene Abeparvovec: First Global Approval

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