ArticleAnnals of clinical and translational neurology2017
Longitudinal characterization of biomarkers for spinal muscular atrophy.
Article in Annals of clinical and translational neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
What it found
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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
29 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Psychometric Characteristics of the Motor Function Measure in Neuromuscular Diseases: A Systematic Review1.Journal of neuromuscular diseases · 2023Pooled it
- Quantitative Whole-Body Muscle MRI in Adults With Spinal Muscular Atrophy-A Sensitive Tool for Long-Time Evaluation of Disease Progression.European journal of neurology · 2026Article
- Whole-body muscle MRI in patients with spinal muscular atrophy.Journal of neurology · 2025Article
- Total tau in cerebrospinal fluid detects treatment responders among spinal muscular atrophy types 1-3 patients treated with nusinersen.CNS neuroscience & therapeutics · 2024Article
- Smartphone-Based Assessment of Mobility and Manual Dexterity in Adult People with Spinal Muscular Atrophy.Journal of neuromuscular diseases · 2024Article
- Biomarkers in 5q-associated spinal muscular atrophy-a narrative review.Journal of neurology · 2023Review
- Multi-omics profiling of CSF from spinal muscular atrophy type 3 patients after nusinersen treatment: a 2-year follow-up multicenter retrospective study.Cellular and molecular life sciences : CMLS · 2023Article
- Molecular Biomarkers for the Diagnosis, Prognosis, and Pharmacodynamics of Spinal Muscular Atrophy.Journal of clinical medicine · 2023Review
- Role of circulating biomarkers in spinal muscular atrophy: insights from a new treatment era.Frontiers in neurology · 2023Review
- Multi-parametric quantitative magnetic resonance imaging of the upper arm muscles of patients with spinal muscular atrophy.NMR in biomedicine · 2022Article
- Muscle quantitative MRI in adult SMA patients on nusinersen treatment: a longitudinal study.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2022Article
- Magnetic resonance reveals mitochondrial dysfunction and muscle remodelling in spinal muscular atrophy.Brain : a journal of neurology · 2022Article
- Multispectral optoacoustic tomography for non-invasive disease phenotyping in pediatric spinal muscular atrophy patients.Photoacoustics · 2022Article
- Molecular Biomarkers for Spinal Muscular Atrophy: A Systematic Review.Neurology. Clinical practice · 2021Review
- Development of new outcome measures for adult SMA type III and IV: a multimodal longitudinal study.Journal of neurology · 2021Article
- Quantification of disease progression in spinal muscular atrophy with muscle MRI-a pilot study.NMR in biomedicine · 2021Article
- Natural history of Type 2 and 3 spinal muscular atrophy: 2-year NatHis-SMA study.Annals of clinical and translational neurology · 2021Observational
- Update on Biomarkers in Spinal Muscular Atrophy.Biomarker insights · 2021Review
- Pilot Study on Quantitative Cervical Cord and Muscular MRI in Spinal Muscular Atrophy: Promising Biomarkers of Disease Evolution and Treatment?Frontiers in neurology · 2021Article
- Quantitative MRI of skeletal muscle in a cross-sectional cohort of patients with spinal muscular atrophy types 2 and 3.NMR in biomedicine · 2020Article
Corrections and comments
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Authors and funding
18 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveRecent advances in understanding Spinal Muscular Atrophy (SMA) etiopathogenesis prompted development of potent intervention strategies and raised need for sensitive outcome measures capable of assessing disease progression and response to treatment. Several biomarkers have been proposed; nevertheless, no general consensus has been reached on the most feasible ones. We observed a wide range of measures over 1 year to assess their ability to monitor the disease status and progression.
methods18 SMA patients and 19 healthy volunteers (HV) were followed in this 52-weeks observational study. Quantitative-MRI (qMRI) of both thighs and clinical evaluation of motor function was performed at baseline, 6, 9 and 12 months follow-up. Blood samples were taken in patients for molecular characterization at screening, 9 and 12 month follow-up. Progression, responsiveness and reliability of collected indices were quantified. Correlation analysis was performed to test for potential associations.
resultsQMRI indices, clinical scales and molecular measures showed high to excellent reliability. Significant differences were found between qMRI of SMA patients and HV. Significant associations were revealed between multiple qMRI measures and functional clinical scales. None of the qMRI, clinical, or molecular measures was able to detect significant disease progression over 1 year.
interpretationWe probed a variety of quantitative measures for SMA in a slowly-progressing disease population over 1 year. The presented measures demonstrated potential to provide a closer link to underlying disease biology as compared to conventional functional scales. The proposed biomarker framework can guide implementation of more sensitive endpoints in future clinical trials and prove their utility in search for novel disease-modifying therapies.
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Registered trials
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