Trial reportPediatric pulmonology2019
Health outcomes in spinal muscular atrophy type 1 following AVXS-101 gene replacement therapy.
Trial report in Pediatric pulmonology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02122952 (Phase I Gene Transfer Clinical Trial for Spinal Muscular Atrophy Type 1 Delivering AVXS-101), which is not on this map. Cited by 107 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Phase I Gene Transfer Clinical Trial for Spinal Muscular Atrophy Type 1 Delivering AVXS-101
Who cites it
107 citing papers in PubMed, 3 syntheses or guidelines pooled it, 214 citations in OpenAlex.
- Systematic literature review of the impact of spinal muscular atrophy therapies on bulbar function.Journal of neuromuscular diseases · 2025Pooled it
- Systematic Literature Review of the Natural History of Spinal Muscular Atrophy: Motor Function, Scoliosis, and Contractures.Neurology · 2023Pooled it
- Systematic Literature Review of Clinical and Economic Evidence for Spinal Muscular Atrophy.Advances in therapy · 2022Pooled it
- Health outcomes in spinal muscular atrophy type 1 following AVXS-101 gene replacement therapy.Pediatric pulmonology · 2019Trial
- Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in Spain, Greece, and Portugal.Neurology and therapy · 2026Article
- Onasemnogene abeparvovec gene therapy for treatment of patients with spinal muscular atrophy: Updated real-world practical considerations.Journal of neuromuscular diseases · 2026Review
- Article
- Optimization of systemic AAV9 gene therapy in Niemann-Pick disease, type C1 mice.Life science alliance · 2026Article
- Identification of computationally designed skeletal and cardiac promoters with high specificity across AAV delivery routes.BMC biotechnology · 2026Article
- Cost-effectiveness of treatments for presymptomatic newborn patients with spinal muscular atrophy and two or three copies of the survival motor neuron 2 gene in Italy.The European journal of health economics : HEPAC : health economics in prevention and care · 2026Article
- Spinal muscular atrophy: Biology, pathogenesis, and therapeutic advances.Therapeutic advances in neurological disorders · 2026Review
- Exploring the Trajectory of Swallowing Within Psychomotor Development in Spinal Muscular Atrophy: Moving Toward Integrated Care.Audiology research · 2025Article
- Early Intervention and Speed-to-Effect in Spinal Muscular Atrophy Type 1 Following Onasemnogene Abeparvovec Gene Replacement Therapy: Results of aPost-Hoc Analysis of Pooled Clinical Study Data.Neurology and therapy · 2025Article
- Neurodevelopmental and mental disorders in children with type I and presymptomatic spinal muscular atrophy.Scientific reports · 2025Article
- Characterizing healthcare resource utilization in two rare diseases (Kleefstra syndrome and SLC6A1 epileptic encephalopathy) using multimodal real-world data.Orphanet journal of rare diseases · 2025Article
- Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in Australian Hospitals.Neurology and therapy · 2025Article
- Targeting the Neonatal Fc Receptor in Autoimmune Diseases: Pipeline and Progress.BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy · 2025Review
- Prevalence of Neutralizing Antibodies to AAV2 and AAV9 in Individuals with Niemann-Pick Disease, Type C1.Human gene therapy · 2025Article
- Mitochondria transplantation transiently rescues cerebellar neurodegeneration improving mitochondrial function and reducing mitophagy in mice.Nature communications · 2025Article
- The evolving landscape of NF gene therapy: Hurdles and opportunities.Molecular therapy. Nucleic acids · 2025Review
47 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
16 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSpinal Muscular Atrophy type 1 (SMA1) is a rare genetic neuromuscular disease where 75% of SMA1 patients die/require permanent-ventilation by 13.6 months. This study assessed the health outcomes of SMA1 infants treated with AVXS-101 gene replacement therapy.
methodsTwelve genetically confirmed SMA1 infants with homozygous deletions of the SMN1 gene and two SMN2 gene copies received a one-time intravenous proposed therapeutic dose of AVXS-101 in an open label study conducted between December 2014 and 2017. Patients were followed for 2-years post-treatment for outcomes including (1) pulmonary interventions; (2) nutritional interventions; (3) swallow function; (4) hospitalization rates; and (5) motor function.
resultsAll 12 patients completed the study. Seven infants did not require noninvasive ventilation (NIV) by study completion. Eleven patients had stable or improved swallow function, demonstrated by the ability to feed orally; 11 patients were able to speak. The mean proportion of time hospitalized was 4.4%; the mean unadjusted annualized hospitalization rate was 2.1 (range = 0, 7.6), with a mean length of stay/hospitalization of 6.7 (range = 3, 12.1) days. Eleven patients achieved full head control and sitting unassisted and two patients were walking independently.
conclusionsAVXS-101 treatment in SMA1 was associated with reduced pulmonary and nutritional support requirements, improved motor function, and decreased hospitalization rate over the follow-up period. This contrasts with the natural history of progressive respiratory failure and reduced survival. The reduced healthcare utilization could potentially alleviate patient and caregiver burden, suggesting an overall improved quality of life following gene replacement therapy.
trial registrationClinicalTrials.gov number, NCT02122952.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.