ReviewGene therapy2023
Curing SMA: Are we there yet?
Review in Gene therapy, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 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
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 61 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
- First-in-human study of epidural spinal cord stimulation in individuals with spinal muscular atrophy.Nature medicine · 2025Trial
- Heterogeneous nuclear ribonucleoprotein A1 as a candidate associated with pulmonary vascular remodeling in pulmonary arterial hypertension.Journal of molecular and cellular cardiology plus · 2026Article
- Sleep quality, restless legs syndrome and daytime sleepiness in adults with 5q-spinal muscular atrophy.Journal of neuromuscular diseases · 2026Article
- Spinal muscular atrophy in the disease-modifying therapy era: successes, limitations and future directions.Frontiers in molecular medicine · 2026Review
- Analysis and comparison of the trends in the burden of motor neuron disease in China and worldwide from 1990 to 2021.PloS one · 2026Article
- DG9-Conjugated Morpholino Rescues Phenotype in Spinal Muscular Atrophy Mice.Methods in molecular biology (Clifton, N.J.) · 2026Article
- The delivery challenge of adeno-associated virus vector-based gene therapies for neurological diseases.Frontiers in neuroscience · 2026Review
- 10H-phenothiazine exerts beneficial effects in spinal muscular atrophy in vitro and in vivo models.Scientific reports · 2025Article
- Mifepristone alone and in combination with scAAV9-SMN1 gene therapy improves disease phenotypes in SmnScientific reports · 2025Article
- Ergothioneine supplementation improves pup phenotype and survival in a murine model of spinal muscular atrophy.FEBS letters · 2025Article
- Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care.Journal of inherited metabolic disease · 2025Article
- Nusinersen corrects L-arginine deficiency in the cerebrospinal fluid of patients with severe spinal muscular atrophy.Neurobiology of disease · 2025Article
- Advancing personalized spinal muscular atrophy care: matching the right biomarker to the right patient at the right time.Journal of neurology · 2025Review
- Proprioceptive synaptic dysfunction is a key feature in mice and humans with spinal muscular atrophy.Brain : a journal of neurology · 2025Article
- Dysregulated balance of D- and L-amino acids modulating glutamatergic neurotransmission in severe spinal muscular atrophy.Neurobiology of disease · 2025Article
- Catecholaminergic dysfunction drives postural and locomotor deficits in a mouse model of spinal muscular atrophy.Cell reports · 2025Article
- Assessment of safety and efficacy of risdiplam treatment in adults with spinal muscular atrophy.Frontiers in neurology · 2025Article
- Review
- Isogenic patient-derived organoids reveal early neurodevelopmental defects in spinal muscular atrophy initiation.Cell reports. Medicine · 2024Article
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 2 countries.
Funding
Abstract
Loss or deletion of survival motor neuron 1 gene (SMN1) is causative for a severe and devastating neuromuscular disease, Spinal Muscular Atrophy (SMA). SMN1 produces SMN, a ubiquitously expressed protein, that is essential for the development and survival of motor neurons. Major advances and developments in SMA therapeutics are shifting the natural history of the disease. With three relatively new available therapies, nusinersen (Spinraza), onasemnogene abeparvovec (Zolgensma), and risdiplam (Evrysdi), patients survive longer and have improved outcomes. However, patients and families continue to face many challenges associated with use of these therapies, including poor treatment response and a variability in the benefits to those that do respond, suggesting that the quest for the SMA cure is not over. In this review, we discuss the current therapies, their limitations, and highlight necessary gaps that need to be addressed to guarantee the best outcomes for SMA patients.
Indexed as
Identifiers
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.