ReviewAnnals of clinical and translational neurology2019
Novel challenges in spinal muscular atrophy - How to screen and whom to treat?
Review in Annals of clinical and translational neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Systematic Literature Review to Identify Utility Values in Patients with Spinal Muscular Atrophy (SMA) and Their Caregivers.PharmacoEconomics · 2022Pooled it
- Systematic Literature Review to Assess Economic Evaluations in Spinal Muscular Atrophy (SMA).PharmacoEconomics · 2022Pooled it
- Newborn Screening for Spinal Muscular Atrophy in the Republic of Moldova: A Feasibility Study and First Steps.International journal of neonatal screening · 2026Article
- Longitudinal multi-omics profiling of spinal muscular atrophy.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026Article
- Transforming Spinal Muscular Atrophy: From Pivotal Trials to Real-World Evidence and Future Therapeutic Frontiers in Types 1 and 2.Biomedicines · 2025Review
- Comprehensive analysis acrossiScience · 2025Article
- Nusinersen Improves Motor Function in Type 2 and 3 Spinal Muscular Atrophy Patients across Time.Biomedicines · 2024Article
- A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up.Orphanet journal of rare diseases · 2024Article
- Spinal muscular atrophy type 1: A fatal case in a 1-year-old girl with delayed diagnosis.Clinical case reports · 2024Article
- A new line method; A direct test in spinal muscular atrophy screening for DBS.Molecular genetics & genomic medicine · 2023Article
- Current development and prospects of deep learning in spine image analysis: a literature review.Quantitative imaging in medicine and surgery · 2022Review
- [Precision medicine in pediatric neurology exemplified by the new treatment forms].Der Nervenarzt · 2022Review
- Article
- Article
- "EClinicalMedicine · 2021Article
- [Evaluation and perspective of 20 years of neonatal screening in Galicia. Program results.]Revista espanola de salud publica · 2020Article
- European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy.European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society · 2020Article
- Circulating MyomiRs as Potential Biomarkers to Monitor Response to Nusinersen in Pediatric SMA Patients.Biomedicines · 2020Article
- Advances in Treatment of Spinal Muscular Atrophy - New Phenotypes, New Challenges, New Implications for Care.Journal of neuromuscular diseases · 2020Review
- Circulating microRNAs as potential biomarkers and therapeutic targets in spinal muscular atrophy.Therapeutic advances in neurological disorders · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In recent years, disease-modifying and life-prolonging therapies for spinal muscular atrophy (SMA) have been developed. However, patients are currently diagnosed with significant delay and therapies are often administered in advanced stages of motor neuron degeneration, showing limited effects. Methods to identify children in presymptomatic stages are currently evaluated in newborn screening programs. Yet, not all children develop symptoms shortly after birth raising the question whom to treat and when to initiate therapy. Finally, monitoring disease progression becomes essential to individualize management. Here, we review the literature on screening approaches, strategies to predict disease severity, and biomarkers to monitor therapy.
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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.