ArticleScientific reports2021
Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.
Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
54 citing papers in PubMed, 1 synthesis or guideline pooled it, 73 citations in OpenAlex.
- Spinal Muscular Atrophy Treatment in Patients Identified by Newborn Screening-A Systematic Review.Genes · 2023Pooled it
- Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial.Nature medicine · 2022Trial
- Five-year experience of a combined newborn screening for spinal muscular atrophy and severe combined immunodeficiency in Liguria, Italy.European journal of human genetics : EJHG · 2026Article
- Expanding 5q-SMA Newborn Screening in Latin America: A Brazilian Model for National and Regional Implementation.International journal of neonatal screening · 2026Article
- Acceptability of newborn screening for spinal muscular atrophy: views of the UK public, screened families, health professionals and the SMA community.European journal of human genetics : EJHG · 2026Article
- Data-Related and Methodological Challenges in Assessing the Cost-Effectiveness of Traditional and Genomic Newborn Screening Programs.Applied health economics and health policy · 2026Review
- Real-world treatment patterns and unmet needs in spinal muscular atrophy: a caregiver-centric survey study from China.BMC neurology · 2026Article
- Cost-effectiveness of treatments for presymptomatic newborn patients with spinal muscular atrophy and two or three copies of the survival motor neuron 2 gene in Italy.The European journal of health economics : HEPAC : health economics in prevention and care · 2026Article
- Neonatal Genetic Screening Results for Spinal Muscular Atrophy in Romania: Insights from a 3-Years Pilot Program.International journal of neonatal screening · 2026Article
- Newborn Screening for Spinal Muscular Atrophy in the UK: Use of Modelling to Identify Priorities for Ongoing Evaluation.International journal of neonatal screening · 2026Article
- Implementation Timeframes for the Addition of New Conditions to Newborn Bloodspot Screening Programmes: A Scoping Review.International journal of neonatal screening · 2025Review
- Analytical Validation of a Genomic Newborn Screening Workflow.International journal of neonatal screening · 2025Article
- Genetic Newborn Screening for Retinoblastoma: A Belgian Initiative Baby Detect.International ophthalmology clinics · 2025Review
- Epidemiological report and diagnostic approach used in the neuromuscular population of Liege, Belgium.Orphanet journal of rare diseases · 2025Article
- Development of the "SMA NNE," a short neonatal neurological examination for newborns with spinal muscular atrophy.European journal of pediatrics · 2025Article
- Review
- Newborn screening for spinal muscular atrophy in Ukraine: from pilot project to national programme.The Lancet regional health. Europe · 2025Article
- Results of the Hungarian Newborn Screening Pilot Program for Spinal Muscular Atrophy.International journal of neonatal screening · 2025Article
- Population-based, first-tier genomic newborn screening in the maternity ward.Nature medicine · 2025Article
- Newborn screening and rapid genomic diagnosis of neuromuscular diseases.Journal of neuromuscular diseases · 2025Review
Corrections and comments
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Authors and funding
25 authors at 10 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Three new therapies for spinal muscular atrophy (SMA) have been approved by the United States Food and Drug Administration and the European Medicines Agency since 2016. Although these new therapies improve the quality of life of patients who are symptomatic at first treatment, administration before the onset of symptoms is significantly more effective. As a consequence, newborn screening programs have been initiated in several countries. In 2018, we launched a 3-year pilot program to screen newborns for SMA in the Belgian region of Liège. This program was rapidly expanding to all of Southern Belgium, a region of approximately 55,000 births annually. During the pilot program, 136,339 neonates were tested for deletion of exon 7 of SMN1, the most common cause of SMA. Nine SMA cases with homozygous deletion were identified through this screen. Another patient was identified after presenting with symptoms and was shown to be heterozygous for the SMN1 exon 7 deletion and a point mutation on the opposite allele. These ten patients were treated. The pilot program has now successfully transitioned into the official neonatal screening program in Southern Belgium. The lessons learned during implementation of this pilot program are reported.
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