Observational studyOrphanet journal of rare diseases2020
Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study.
Observational study in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 5 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
43 citing papers in PubMed, 5 syntheses or guidelines pooled it, 100 citations in OpenAlex.
- Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review.Annals of clinical and translational neurology · 2026Pooled it
- Swallowing and feeding after disease-modifying treatment for spinal muscular atrophy: a systematic review of assessment modalities and outcomes.Orphanet journal of rare diseases · 2026Pooled it
- The impact of threeFrontiers in neurology · 2024Pooled it
- Prognostic Factors and Treatment-Effect Modifiers in Spinal Muscular Atrophy.Clinical pharmacology and therapeutics · 2021Pooled it
- Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis.Orphanet journal of rare diseases · 2021Pooled it
- Inspiratory muscle training and trunk control exercises on respiratory strength and motor function in spinal muscular atrophy: randomized controlled trial.Scientific reports · 2025Trial
- Effect of nusinersen on respiratory function in patients with spinal muscular atrophy: an 18-month single-center prospective study.Frontiers in pediatrics · 2026Article
- REGISTRE SMA FRANCE: A nationwide observational registry of patients with spinal muscular atrophy in France.Journal of neuromuscular diseases · 2025Observational
- Respiratory effects of nusinersen treatment in pediatric patients with spinal muscular atrophy types 2 and 3.European journal of pediatrics · 2025Article
- Sustainable efficacy of nusinersen in children with later-onset spinal muscular atrophy: a 3-year observational study.World journal of pediatrics : WJP · 2025Article
- Enhancing the effects of nusinersen with cybernic treatment using Hybrid Assistive Limb (HAL) in spinal muscular atrophy: a real-world case series and exploratory cohort analysis.Orphanet journal of rare diseases · 2025Observational
- Motor pool selectivity of neuromuscular degeneration in type I spinal muscular atrophy is conserved between human and mouse.Human molecular genetics · 2025Article
- Nusinersen for children with type I spinal muscular atrophy: 4 years' clinical experience in Turkish cohort.Frontiers in neurology · 2025Article
- Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment.Orphanet journal of rare diseases · 2024Article
- Rehabilitation for spinal muscular atrophy patients in China: a national cross-sectional study.Orphanet journal of rare diseases · 2024Article
- [Clinical efficacy of nusinersen sodium in the treatment of children with spinal muscular atrophy].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024Article
- Patients' Perceptions of Nusinersen Effects According to Their Responder Status.Journal of clinical medicine · 2024Article
- Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3.Neurology. Clinical practice · 2024Article
- Safety and efficacy of growth-friendly instrumentation for early-onset scoliosis in patients with spinal muscular atrophy type 1 in the disease-modifying treatment era.Journal of children's orthopaedics · 2024Article
- Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments.Orphanet journal of rare diseases · 2024Article
Corrections and comments
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Authors and funding
30 authors at 20 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSpinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord. Nusinersen has been covered by public healthcare in France since May 2017. The aim of this article is to report results after 1 year of treatment with intrathecal nusinersen in children with SMA types 1 and 2 in France. Comparisons between treatment onset (T0) and after 1 year of treatment (Y1) were made in terms of motor function and need for nutritional and ventilatory support. Motor development milestone achievements were evaluated using the modified Hammersmith Infant Neurologic Examination-Part 2 (HINE-2) for patients under 2 years of age and Motor Function Measure (MFM) scores for patients over 2 years of age.
resultsData on 204 SMA patients (type 1 or 2) were retrospectively collected from the 23 French centers for neuromuscular diseases. One hundred and twenty three patients had been treated for at least 1 year and were included, 34 of whom were classified as type 1 (10 as type 1a/b and 24 as type 1c) and 89 as type 2. Survival motor Neuron 2 (SMN2) copy numbers were available for all but 6 patients. Patients under 2 years of age (n = 30), had significantly higher HINE-2 scores at year 1 than at treatment onset but used more nutritional and ventilatory support. The 68 patients over 2 years of age evaluated with the Motor Function Measure test had significantly higher overall scores after 1 year, indicating that their motor function had improved. The scores were higher in the axial and proximal motor function (D2) and distal motor function (D3) parts of the MFM scale, but there was no significant difference for standing and transfer scores (D1). No child in either of the two groups achieved walking.
conclusionNusinersen offers life-changing benefits for children with SMA, particularly those with more severe forms of the disorder. Caregiver assessments are positive. Nevertheless, patients remain severely disabled and still require intensive support care. This new treatment raises new ethical challenges.
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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.