ReviewJournal of neuromuscular diseases2020
Advances in Treatment of Spinal Muscular Atrophy - New Phenotypes, New Challenges, New Implications for Care.
Review in Journal of neuromuscular diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 134 papers, 6 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
134 citing papers in PubMed, 6 syntheses or guidelines pooled it, 281 citations in OpenAlex.
- Caregiver Burden of Spinal Muscular Atrophy: A Systematic Review.PharmacoEconomics · 2023Pooled it
- Psychometric Characteristics of the Motor Function Measure in Neuromuscular Diseases: A Systematic Review1.Journal of neuromuscular diseases · 2023Pooled it
- Systematic Literature Review of Clinical and Economic Evidence for Spinal Muscular Atrophy.Advances in therapy · 2022Pooled it
- Systematic Literature Review to Assess Economic Evaluations in Spinal Muscular Atrophy (SMA).PharmacoEconomics · 2022Pooled it
- Systematic Literature Review to Assess the Cost and Resource Use Associated with Spinal Muscular Atrophy Management.PharmacoEconomics · 2022Pooled it
- Costs of Illness of Spinal Muscular Atrophy: A Systematic Review.Applied health economics and health policy · 2021Pooled it
- Safety and Efficacy of Apitegromab in Patients With Spinal Muscular Atrophy Types 2 and 3: The Phase 2 TOPAZ Study.Neurology · 2024Trial
- Using human 3D organoid models to gain mechanistic insight in motor neuron diseases.Nature reviews. Neuroscience · 2026Review
- Newborn Screening for Spinal Muscular Atrophy in the Republic of Moldova: A Feasibility Study and First Steps.International journal of neonatal screening · 2026Article
- [Spinal muscular atrophy: Clinical and genetic aspects, and therapeutic alternatives].Revista medica del Instituto Mexicano del Seguro Social · 2026Review
- Disease modifying therapies for children with spinal muscular atrophy - parents' experiences of hopes, grief and need for rehabilitation for their child.Journal of neuromuscular diseases · 2026Article
- Safety and Efficacy of Magnetically Controlled Growing Rods for Early Onset Scoliosis in the Era of Disease-Modifying Therapies: Mid-term Results in a Homogeneous Cohort of Spinal Muscular Atrophy Type 1 Patients.Journal of the Pediatric Orthopaedic Society of North America · 2026Article
- State of the art: Pregnancy in spinal muscular atrophy in the treatment era.Journal of neuromuscular diseases · 2026Review
- Physiotherapeutic management of patients with SMA: A questionnaire-based online survey among physiotherapists within the SMArtCARE network.Journal of neuromuscular diseases · 2026Article
- Adult SMA REACH: A UK clinical network and real-world data collection study for adults living with spinal muscular atrophy.Journal of neuromuscular diseases · 2026Article
- Clinicodemographic and Genetic Profile of Children with Spinal Muscular Atrophy in Kerala, India: A Single-Center Experience.Annals of Indian Academy of Neurology · 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
- Effectiveness of Risdiplam Treatment in Adult Patients With Spinal Muscular Atrophy Type IIb-III.Revista de neurologia · 2026Article
- Scoliosis correction in spinal muscular atrophy : the influence of genetic severity, functional level, and disease-modifying agents on postoperative outcomes.Bone & joint open · 2026Article
- Unbiased bioinformatic and clinical analysis identifies glial fibrillary acidic protein as a potential biomarker in spinal muscular atrophy.Brain communications · 2026Article
74 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
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spinal Muscular Atrophy (SMA) is caused by autosomal recessive mutations in SMN1 and results in the loss of motor neurons and progressive muscle weakness. The spectrum of disease severity ranges from early onset with respiratory failure during the first months of life to a mild, adult-onset type with slow rate of progression. Over the past decade, new treatment options such as splicing modulation of SMN2 and SMN1 gene replacement by gene therapy have been developed. First drugs have been approved for treatment of patients with SMA and if initiated early they can significantly modify the natural course of the disease. As a consequence, newborn screening for SMA is explored and implemented in an increasing number of countries. However, available evidence for these new treatments is often limited to a small spectrum of patients concerning age and disease stage. In this review we provide an overview of available and emerging therapies for spinal muscular atrophy and we discuss new phenotypes and associated challenges in clinical care. Collection of real-world data with standardized outcome measures will be essential to improve both the understanding of treatment effects in patients of all SMA subtypes and the basis for clinical decision-making in SMA.
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What OpenQuestion holds
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.