ReviewNature reviews. Neurology2018
Advances in therapy for spinal muscular atrophy: promises and challenges.
Review in Nature reviews. Neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 128 papers, 4 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
128 citing papers in PubMed, 4 syntheses or guidelines pooled it, 241 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
- Salbutamol in 5q spinal muscular atrophy: a systematic review and meta-analysis of efficacy and safety.European journal of pediatrics · 2025Pooled it
- Systematic review and meta-analysis determining the benefits of in vivo genetic therapy in spinal muscular atrophy rodent models.Gene therapy · 2022Pooled it
- Systematic Literature Review of Clinical and Economic Evidence for Spinal Muscular Atrophy.Advances in therapy · 2022Pooled it
- Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history.PloS one · 2018Trial
- Brain Morphological Alterations in Adults with Spinal Muscular Atrophy Types 2 and 3: A CAT12-Derived Region-Based and Surface-Based Morphometry Study.Journal of clinical medicine · 2026Article
- New SMA era: A broad-range tiered assessment of function for the evolving SMA phenotype (EVOLVE-SMA).Journal of neuromuscular diseases · 2026Article
- Clinical Experience of Timing Treatment in Newborns with Spinal Muscular Atrophy: A Call for Standardized Screening Practices in Italy.International journal of neonatal screening · 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
- Contaminating plasmid sequences and disrupted vector genomes in the liver following adeno-associated virus gene therapy.Nature medicine · 2026Article
- Early life safety profiling of gene therapy for spinal muscular atrophy.Gene therapy · 2026Article
- Mifepristone alone and in combination with scAAV9-SMN1 gene therapy improves disease phenotypes in SmnScientific reports · 2025Article
- Prenatal SMN-dependent defects in translation uncover reversible primary cilia phenotypes in spinal muscular atrophy.JCI insight · 2025Article
- Identification of p38 MAPK inhibition as a neuroprotective strategy for combinatorial SMA therapy.EMBO molecular medicine · 2025Article
- Spinal Muscular Atrophy in Colombia: Nationwide Incidence, Demographic Distribution, and Healthcare Challenges.Cureus · 2025Article
- In vivo applications and toxicities of AAV-based gene therapies in rare diseases.Orphanet journal of rare diseases · 2025Review
- Quantitative cervical cord MRI in spinal muscular atrophy: a sensitive imaging biomarker of disease evolution and treatment.Journal of neurology · 2025Article
- Chaperone dysfunction in motor neuron disease: new insights from studies of the SMN complex.Genetics · 2025Review
- Exploring the Prevalence ofInternational journal of molecular sciences · 2025Article
- Association between serum copper concentration and body composition in children with spinal muscular atrophy: a cross-sectional study.Asia Pacific journal of clinical nutrition · 2025Article
68 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 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spinal muscular atrophy (SMA) is a devastating motor neuron disease that predominantly affects children and represents the most common cause of hereditary infant mortality. The condition results from deleterious variants in SMN1, which lead to depletion of the survival motor neuron protein (SMN). Now, 20 years after the discovery of this genetic defect, a major milestone in SMA and motor neuron disease research has been reached with the approval of the first disease-modifying therapy for SMA by US and European authorities - the antisense oligonucleotide nusinersen. At the same time, promising data from early-stage clinical trials of SMN1 gene therapy have indicated that additional therapeutic options are likely to emerge for patients with SMA in the near future. However, the approval of nusinersen has generated a number of immediate and substantial medical, ethical and financial implications that have the potential to resonate beyond the specific treatment of SMA. Here, we provide an overview of the rapidly evolving therapeutic landscape for SMA, highlighting current achievements and future opportunities. We also discuss how these developments are providing important lessons for the emerging second generation of combinatorial ('SMN-plus') therapies that are likely to be required to generate robust treatments that are effective across a patient's lifespan.
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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.