ArticleEClinicalMedicine2024
Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016.
Article in EClinicalMedicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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
6 citing papers in PubMed.
- Current concepts review: Low-vs high-tone neuromuscular spinal deformities: An evolving distinction with clinical implications.Journal of children's orthopaedics · 2026Article
- Assessing Internal States In Children With Neuromuscular Disorders Through An Oral Narrative Task.Clinical neuropsychiatry · 2026Article
- Outcomes and predictors of respiratory morbidity in children with neuromuscular disorders requiring respiratory support: a cohort study from Vietnam.Frontiers in pediatrics · 2026Article
- Ad astra per aspera: treatment challenges and opportunities for children with spinal muscular atrophy and tracheostomy.Gene therapy · 2026Review
- Exploring the Trajectory of Swallowing Within Psychomotor Development in Spinal Muscular Atrophy: Moving Toward Integrated Care.Audiology research · 2025Article
- Newborn Screening Program for Spinal Muscular Atrophy in the Campania Region (Italy): Current Limitations and Potential Perspectives.International journal of neonatal screening · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
30 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: The advent of disease-modifying treatments (DMT) has changed natural history in 5q Spinal muscular atrophy (SMA). The aim of this study was to report survival and functional aspects in all the Italian type I children born since 2016. Methods: The study included all symptomatic children with type I SMA born since January 1st, 2016, when DMTs became available in Italy. All the Italian SMA referral centers provided data on survival and motor, respiratory, and nutritional status. To compare survival rate pre and post DMTs approval, we also included similar data from SMA I patients born between January 1st, 2010, and December 31st, 2015. A two-proportion z-test was conducted to compare the two cohorts. The significance level was set at p < .05. Findings: 241 infants (98%) had type I SMA. Mean follow-up was 3.48 years (SD 2.33). Among type I patients, 42/241 did not survive (25 untreated), while 199 were alive at last follow-up (all treated; mean treatment age 0.6 years), with 25 needing >16 h/day ventilation or tracheostomy with continuous invasive ventilation. 130 of the 199 survivors (65%) achieved independent sitting, and 175 (87.9%) did not require tube feeding. Interpretation: Our study provides a picture of the 'new natural history' of type I SMA, confirming the impact of the new therapies on the progression of type I with longer survival r and has better motor, respiratory and nutritional. Funding: This research was partially funded by grants from the Italian Ministry of Health.
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.