ArticleAnnals of neurology2017
Natural history of infantile-onset spinal muscular atrophy.
Article in Annals of neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 205 papers, 5 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
205 citing papers in PubMed, 5 syntheses or guidelines pooled it, 401 citations in OpenAlex.
- Pooled it
- Prognostic Factors and Treatment-Effect Modifiers in Spinal Muscular Atrophy.Clinical pharmacology and therapeutics · 2021Pooled it
- Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis.Orphanet journal of rare diseases · 2021Pooled it
- Costs of Illness of Spinal Muscular Atrophy: A Systematic Review.Applied health economics and health policy · 2021Pooled it
- Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments.Orphanet journal of rare diseases · 2021Pooled it
- Trial
- 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
- Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study.Neuromuscular disorders : NMD · 2019Trial
- Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1/2 studies.Neurology · 2019Trial
- Neurofilament as a potential biomarker for spinal muscular atrophy.Annals of clinical and translational neurology · 2019Trial
- Health outcomes in spinal muscular atrophy type 1 following AVXS-101 gene replacement therapy.Pediatric pulmonology · 2019Trial
- Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history.PloS one · 2018Trial
- Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in Spain, Greece, and Portugal.Neurology and therapy · 2026Article
- Beyond Narrative and Tabular Synthesis: Introducing an Approach-Rationale-Note (ARN) Framework for Thematic Evidence Synthesis in Economic Evaluation Reviews.PharmacoEconomics · 2026Article
- Ten years of disease-modifying therapy in spinal muscular atrophy: lessons learned and future directions.Nature reviews. Neurology · 2026Review
- Motor function score changes in severe 5q spinal muscular atrophy during risdiplam treatment: an observational longitudinal nationwide cohort study.EClinicalMedicine · 2026Article
- New SMA era: A broad-range tiered assessment of function for the evolving SMA phenotype (EVOLVE-SMA).Journal of neuromuscular diseases · 2026Article
- Long-term persistence, safety and effectiveness of nusinersen in spinal muscular atrophy: a population-based study.Journal of neurology · 2026Observational
- External controls for rare disease drug development: Lessons for emerging and advanced therapeutic modalities.Molecular therapy. Advances · 2026Article
- Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan.Annals of clinical and translational neurology · 2026Article
145 more citing papers are in PubMed but not listed here.
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Authors and funding
38 authors at 20 institutions in 1 country.
Funding
Abstract
objectiveInfantile-onset spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality, typically resulting in death preceding age 2. Clinical trials in this population require an understanding of disease progression and identification of meaningful biomarkers to hasten therapeutic development and predict outcomes.
methodsA longitudinal, multicenter, prospective natural history study enrolled 26 SMA infants and 27 control infants aged <6 months. Recruitment occurred at 14 centers over 21 months within the NINDS-sponsored NeuroNEXT (National Network for Excellence in Neuroscience Clinical Trials) Network. Infant motor function scales (Test of Infant Motor Performance Screening Items [TIMPSI], The Children's Hospital of Philadelphia Infant Test for Neuromuscular Disorders, and Alberta Infant Motor Score) and putative physiological and molecular biomarkers were assessed preceding age 6 months and at 6, 9, 12, 18, and 24 months with progression, correlations between motor function and biomarkers, and hazard ratios analyzed.
resultsMotor function scores (MFS) and compound muscle action potential (CMAP) decreased rapidly in SMA infants, whereas MFS in all healthy infants rapidly increased. Correlations were identified between TIMPSI and CMAP in SMA infants. TIMPSI at first study visit was associated with risk of combined endpoint of death or permanent invasive ventilation in SMA infants. Post-hoc analysis of survival to combined endpoint in SMA infants with 2 copies of SMN2 indicated a median age of 8 months at death (95% confidence interval, 6, 17).
interpretationThese data of SMA and control outcome measures delineates meaningful change in clinical trials in infantile-onset SMA. The power and utility of NeuroNEXT to provide "real-world," prospective natural history data sets to accelerate public and private drug development programs for rare disease is demonstrated. Ann Neurol 2017;82:883-891.
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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.