ReviewGene therapy2017
Therapeutic approaches for spinal muscular atrophy (SMA).
Review in Gene therapy, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis 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
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 53 citations in OpenAlex.
- 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
- The Effect of Aerobic Exercise Training on Patients with Type III Spinal Muscular Atrophy.Journal of clinical medicine · 2025Article
- Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3.Neurology. Clinical practice · 2024Article
- Preimplantation Genetic Testing for Adult-Onset Neurodegenerative Disease: Considerations for Access, Utilization, and Counseling.Neurology · 2023Article
- Safety and Efficacy of Nusinersen and Risdiplam for Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.Brain sciences · 2023Review
- Examination of Upper Limb Function and the Relationship with Gross Motor Functional and Structural Parameters in Patients with Spinal Muscular Atrophy.Biomedicines · 2023Article
- Revised Hammersmith Scale for spinal muscular atrophy: Inter and intra-rater reliability and agreement.PloS one · 2022Article
- Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study.Neurology · 2021Observational
- Revising, Correcting, and Transferring Genes.The American journal of bioethics : AJOB · 2020Article
- Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy.Journal of cachexia, sarcopenia and muscle · 2020Article
- Limitations of 6-minute walk test reference values for spinal muscular atrophy.Muscle & nerve · 2020Article
- Neurocalcin Delta Knockout Impairs Adult Neurogenesis Whereas Half Reduction Is Not Pathological.Frontiers in molecular neuroscience · 2019Article
- One Year of Newborn Screening for SMA - Results of a German Pilot Project.Journal of neuromuscular diseases · 2019Article
- Article
- Passive Immunotherapies for Central Nervous System Disorders: Current Delivery Challenges and New Approaches.Bioconjugate chemistry · 2018Review
- Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.Human molecular genetics · 2018Article
- Adeno-associated Virus Genome Population Sequencing Achieves Full Vector Genome Resolution and Reveals Human-Vector Chimeras.Molecular therapy. Methods & clinical development · 2018Article
- Neurochemical abnormalities in premanifest and early spinocerebellar ataxias.Annals of neurology · 2018Article
- Spinal muscular atrophy type I and the dual role of viruses: An interview with Professor Basil T. Darras, Professor of Neurology (Pediatrics) at Harvard Medical School.Experimental and therapeutic medicine · 2018Article
- Overview of Current Drugs and Molecules in Development for Spinal Muscular Atrophy Therapy.Drugs · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Spinal muscular atrophy is an autosomal recessive neurodegenerative disorder characterized by progressive muscle wasting and loss of muscle function due to severe motor neuron dysfunction, secondary to mutations in the survival motor neuron 1 (SMN1) gene. A second neighboring centromeric gene, SMN2, is intact in all patients but contains a C-to-T variation in exon 7 that affects a splice enhancer and determines exclusion of exon 7 in the majority of its transcript, leading to an unstable protein that cannot substitute for mutant SMN1. Following successful studies on disease models and intensive studies on SMN functions in the past decade, SMN upregulation targeting SMN2, has been suggested as a possible therapeutic approach. Recently, we have witnessed an historical turning point with the first disease-modifying treatment receiving Food and Drug Administration approval and now being available to patients also outside the clinical trial. This innovative treatment is an antisense oligonucleotide, which, administered intrathecally, is able to increase exon 7 inclusion in the majority of the SMN2 mRNA and increase the production of fully functional SMN protein. Alternative advanced therapies, such as viral vector mediated gene therapy and orally available small molecules, are also showing promising results in early clinical trial phases.
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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.