ArticleJournal of neuromuscular diseases2024
Newborn screening programs for spinal muscular atrophy worldwide in 2023.
Article in Journal of neuromuscular diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Economic evidence on the cost-effectiveness of newborn screening for spinal muscular atrophy: a systematic review.European journal of pediatrics · 2025Pooled it
- Addressing the Global Disparities in Access to Treatment in Spinal Muscular Atrophy.Muscle & nerve · 2026Review
- Ten years of disease-modifying therapy in spinal muscular atrophy: lessons learned and future directions.Nature reviews. Neurology · 2026Review
- Maternal-Fetal Administration of Risdiplam Partially Rescues the SMNΔ7 Mouse Model of Spinal Muscular Atrophy.Annals of neurology · 2026Article
- Newborn screening for spinal muscular atrophy: time is motor neuron.Nature reviews. Neurology · 2026Article
- A Single-Tube Nested PCR Method forMethods and protocols · 2026Article
- SMN1 mutation spectrum and functional analysis of novel SMN1 variants in a Chinese spinal muscular atrophy cohort.Journal of human genetics · 2026Article
- Expanding 5q-SMA Newborn Screening in Latin America: A Brazilian Model for National and Regional Implementation.International journal of neonatal screening · 2026Article
- Onasemnogene abeparvovec gene therapy for treatment of patients with spinal muscular atrophy: Updated real-world practical considerations.Journal of neuromuscular diseases · 2026Review
- Pre-symptomatic treatment of spinal muscular atrophy: a strategic shift from concept to clinical practice.World journal of pediatrics : WJP · 2026Article
- Treatment evolution in spinal muscular atrophy: insights from the SMArtCARE registry.Brain : a journal of neurology · 2026Article
- SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions.American journal of human genetics · 2026Article
- Real-world evidence on nusinersen treatment of persons with SMA: a focused review.Journal of neuromuscular diseases · 2026Review
- Trends in the Timeliness of Spinal Muscular Atrophy Detection in US Infants, 2016-2023.International journal of neonatal screening · 2026Article
- Neonatal Genetic Screening Results for Spinal Muscular Atrophy in Romania: Insights from a 3-Years Pilot Program.International journal of neonatal screening · 2026Article
- Neonatal screening for spinal muscular atrophy: Report of a multicenter study in Brazil.Genetics and molecular biology · 2026Article
- Therapeutic advances in spinal muscular atrophy: a review of clinical, safety, and economic considerations.Frontiers in pharmacology · 2026Review
- Implementation Timeframes for the Addition of New Conditions to Newborn Bloodspot Screening Programmes: A Scoping Review.International journal of neonatal screening · 2025Review
- Quebec Spinal Muscular Atrophy Newborn Screening Program: The First Year Experience.International journal of neonatal screening · 2025Article
- Rehabilitation management for patients with spinal muscular atrophy: a review.Orphanet journal of rare diseases · 2025Review
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSpinal muscular atrophy is a rare, genetic neuromuscular disorder. Disease-modifying therapies, when administered early, have shown improved outcomes, leading to the implementation of numerous newborn screening programs for spinal muscular atrophy.
objectiveThe aim of this study was to evaluate the progress in implementing newborn screening for spinal muscular atrophy and therapy accessibility worldwide, after the first paper published in 2021.
methodsWe conducted a survey, contacted experts from 143 countries worldwide, gathered responses from 86 experts from 80 countries.
resultsBy 2023, 31 countries reported established programs, 33 in the beginning of the year 2024; identifying approximately 1176 cases of spinal muscular atrophy. Additionally, the availability of disease-modifying therapies has expanded. At least one therapy is now accessible in 62 countries. Challenges, such as lack of governmental support, resource constraints, and varying healthcare priorities continue to impede implementation in some countries.
conclusionsThe data shows a significant increase in the implementation of newborn screening programs since 2021. The experts are still expressing a strong need for equitable access to standard of care for all the patients globally. Despite all setbacks, collaborative efforts have played a crucial role in newborn screening for spinal muscular atrophy implementation and currently 7% of world newborns are being screened, projections indicate an estimated 18% screening rate by 2028.
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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.