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AVXS-101 (Onasemnogene Abeparvovec) for SMA1: Comparative Study with a Prospective Natural History Cohort
Open accessAbstract
Background Spinal muscular atrophy type 1 (SMA1) is the leading genetic cause of infant mortality for which therapies, including AVXS-101 (onasemnogene abeparvovec, Zolgensma®) gene replacement therapy, are emerging. Objective This study evaluated the effectiveness of AVXS-101 in infants with spinal muscular atrophy type 1 (SMA1) compared with a prospective natural history cohort and a cohort of healthy infants. Methods Twelve SMA1 infants received the proposed therapeutic dose of AVXS-101 (NCT02122952). Where possible, the following outcomes were compared with a natural history cohort of SMA1 infants (n = 16) and healthy infants (n = 27) enrolled in the NeuroNEXT (NN101) study (NCT01736553): event-free survival, CHOP-INTEND scores, motor milestone achievements, compound muscle action potential (CMAP), and adverse events. Results Baseline characteristics of SMA1 infants in the AVXS-101 and NN101 studies were similar in age and genetic profile. The proportion of AVXS-101-treated infants who survived by 24 months of follow-up was higher compared with the NN101 study (100% vs 38%, respectively). The average baseline CHOP-INTEND score for NN101 SMA1 infants was 20.3, worsening to 5.3 by age 24 months; the average baseline score in AVXS-101-treated infants was 28.2, improving to 56.5 by age 24 months. Infants receiving AVXS-101 achieved motor milestones, such as sitting unassisted and walking. Improvements in CMAP peak area were observed in AVXS-101-treated infants at 6 and 24 mon…
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“Zolgensma has led to increased probability of survival and improved motor skills in SMA type 1 infants when compared to historical controls [91].”
From Circumventing the packaging limit of AAV-mediated gene replacement therapy for neurological disorders (2022) · cites this paper as [91]
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Cites
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Metadata
- Authors
- Al-Zaidy, S. A., Kolb, S. J., Lowes, L., Alfano, L. N., Shell, R., Church, K. R., Nagendran, S., Sproule, D. M., Feltner, D. E., Wells, C., Ogrinc, F., Menier, M., L’Italien, J., Arnold, W. D., Kissel, J. T., Kaspar, B. K., & Mendell, J. R.
- Affiliations
- Nationwide Children's Hospital (US)
- The Ohio State University Wexner Medical Center (US)
- AveXis, Inc., Bannockburn, IL, USA
- Corresponding author
- Mendell, Jerry R.
- ORCID
- Venue
- Journal of Neuromuscular Diseases
- Publisher
- SAGE Publications
- Published
- 2019-09-03
- Volume
- 6
- Issue
- 3
- Pages
- 307-317
- ISSN
- 2214-3599 (ISSN-L)
- 2214-3602
- OpenAlex
- W2966208621
- Cited by
- 185
- References
- 21
- Citations by year
- 2026: 13 · 2025: 19 · 2024: 15 · 2023: 27 · 2022: 24 · 2021: 49 · 2020: 31 · 2019: 6
- FWCI
- 15.11
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Journal of Neuromuscular Diseases (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- Funders
- Muscular Dystrophy Association
- Ohio State University
- Nationwide Children's Hospital
- Cure SMA
- AveXis
- National Institute of Neurological Disorders and Stroke (U01NS079163)
- Topics
- Health Sciences › Medicine › Genetics (clinical) › Neurogenetic and Muscular Disorders Research
- Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
- Keywords
- spinal muscular atrophy type 1, onasemnogene abeparvovec, gene replacement therapy, event-free survival, motor milestones, compound muscle action potential, motor function, natural history cohort, infants
- MeSH terms
- Female, Humans, Infant, Male, Prospective Studies, Spinal Muscular Atrophies of Childhood, Genetic Therapy, Treatment Outcome, Kaplan-Meier Estimate
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