ArticleJournal of neuromuscular diseases2018
Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany.
Article in Journal of neuromuscular diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 2 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.
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Who cites it
61 citing papers in PubMed, 2 syntheses or guidelines pooled it, 148 citations in OpenAlex.
- Gene-based therapy for the treatment of spinal muscular atrophy types 1 and 2 : a systematic review and meta-analysis.Gene therapy · 2025Pooled it
- Prognostic Factors and Treatment-Effect Modifiers in Spinal Muscular Atrophy.Clinical pharmacology and therapeutics · 2021Pooled it
- Exploring the Trajectory of Swallowing Within Psychomotor Development in Spinal Muscular Atrophy: Moving Toward Integrated Care.Audiology research · 2025Article
- Transforming Spinal Muscular Atrophy: From Pivotal Trials to Real-World Evidence and Future Therapeutic Frontiers in Types 1 and 2.Biomedicines · 2025Review
- Administration practices of and adherence to nusinersen in children with spinal muscular atrophy: a multicenter disease registry study in China.BMC pediatrics · 2025Article
- Swallowing function in patients with spinal muscular atrophy before and after the introduction of new gene-based therapies: what has changed?Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Review
- Observational
- Experiences of Family Members and Patients with Spinal Muscular Atrophy Under the Multi-Level Medical Security System in Shaanxi Province, China: A Mixed Study.Healthcare (Basel, Switzerland) · 2025Article
- The long-term efficacy of nusinersen on respiratory functions in children with symptomatic spinal muscular atrophy type 1.Turkish journal of medical sciences · 2025Article
- Rehabilitation improves the effectiveness of nusinersen in children with type 2 spinal muscular atrophy: pNF-H and muscle MRI as potential biomarkers.Frontiers in neurology · 2025Article
- Identification of Biochemical Determinants for Diagnosis and Prediction of Severity in 5q Spinal Muscular Atrophy UsingInternational journal of molecular sciences · 2024Article
- Type-1 spinal muscular atrophy cohort before and after disease-modifying therapies.Arquivos de neuro-psiquiatria · 2024Article
- Acceptability, validity and responsiveness of inertial measurement units for assessing motor recovery after gene therapy in infants with early onset spinal muscular atrophy: a prospective cohort study.Journal of neuroengineering and rehabilitation · 2024Article
- Nusinersen effectiveness and safety in pediatric patients with 5q-spinal muscular atrophy: a multi-center disease registry in China.Journal of neurology · 2024Article
- Patients' Perceptions of Nusinersen Effects According to Their Responder Status.Journal of clinical medicine · 2024Article
- Nusinersen therapy changed the natural course of spinal muscular atrophy type 1: What about spine and hip?Journal of children's orthopaedics · 2024Article
- The Importance of Early Treatment of Inherited Neuromuscular Conditions.Journal of neuromuscular diseases · 2024Review
- Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy.Arquivos de neuro-psiquiatria · 2024Article
- Effects of nusinersen on motor function in children with spinal muscular atrophy: a retrospective study.Frontiers in neurology · 2024Article
- Sleep and sleep-related breathing disorders in patients with spinal muscular atrophy: a changing perspective from novel treatments?Frontiers in neurology · 2024Review
1 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSpinal muscular atrophy (SMA) is a neuromuscular disorder characterized by muscle weakness and muscle atrophy. Nusinersen acts as a splicing modifier and has recently been approved for intrathecal treatment of SMA.
objectivePrior to approval, nusinersen was provided to patients with SMA type 1 in Germany within an Expanded Access Program (EAP). In contrast to previous clinical trials, children of different age groups and different stages of the disease were treated with nusinersen.
methodsWe conducted a prospective, longitudinal data collection of patients treated with nusinersen within the EAP in seven neuromuscular centers in Germany. Standardized assessments including CHOP-INTEND and HINE-2 motor milestones were performed at baseline and 60 and 180 days after start of treatment.
resultsData from 61 SMA type 1 patients (mean age 21.08 months, range 1-93) were available for analysis. After six months of treatment, 47 children (77.0%) improved by ≥4 points in CHOP INTEND score. Mean change in CHOP INTEND score was 9.0±8.0 points. Nineteen patients (31.1%) improved by ≥2 points in HINE-2 motor milestones. Regression analysis revealed age at onset of treatment as major determinant of change in CHOP INTEND from baseline.
conclusionWhen analyzing a broad spectrum of SMA type 1 patients, many children showed an improvement of motor function after six months of treatment with nusinersen, which is generally not expected within the natural course of the disease. Long-term observation and follow-up of patients with later onset types of SMA are crucial to understand the clinical impact of treatment with nusinersen.
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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.