ArticleThe Lancet regional health. Western Pacific2024
A contemporary analysis of the Australian clinical and genetic landscape of spinal muscular atrophy: a registry based study.
Article in The Lancet regional health. Western Pacific, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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
4 citing papers in PubMed.
- Exploring the phenotypic and genotypic spectrum of spinal muscular atrophy in Bangladeshi children.BMC neurology · 2026Article
- Treatment evolution in spinal muscular atrophy: insights from the SMArtCARE registry.Brain : a journal of neurology · 2026Article
- A state-of-the-art review of registries in spinal muscular atrophy: A valuable resource for clinical research.Journal of neuromuscular diseases · 2025Review
- Neurodevelopmental screening in children with early-onset spinal muscular atrophy in the treatment era: a strengths-based cohort study.Brain communications · 2025Article
Corrections and comments
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Authors and funding
16 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: New paradigms of diagnosis and treatment have changed the neurodegenerative trajectory for individuals with spinal muscular atrophy (SMA). Registries are a critical tool to provide real-world data on treatment patterns, their effects and health care provision within this evolving paradigm of care. This study aimed to evaluate the phenotypic and genotypic landscape, treatment patterns and health impact of SMA in Australia through the national registry. Methods: This cross-sectional study investigated demographic, clinical and genetic information, sequelae of weakness, treatment patterns and patient-reported outcomes amongst individuals with SMA enrolled in the Australian Neuromuscular Disease Registry (ANMDR) from 1st January 2020 to 30th April 2023. Descriptive statistics were used for analysis and Chi-Squared or Fisher's exact tests for associations. Findings: 195 individuals with SMA enrolled into the ANMDR. 5/195 (2.6%) were deceased by censor date. Of (n = 190) individuals living with SMA, 104/190 (54.7%) were children. Minimum Australian prevalence was 0.73/100,000. Interpretation: Despite diagnostic and therapeutic advances, mortality and the multi-systemic health impact of SMA continue to be experienced within the Australian population. Healthcare provision must align with patient-centred outcomes, adapting to meeting their changing but ongoing care requirements. The study identified the considerable unmet need for multidisciplinary care, not only for adults with SMA but also for the emerging cohort of treated children, emphasising the imperative for comprehensive healthcare provision to address their evolving needs. Funding: No funding was received for this study.
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