Application of Biomarkers in Spinal Muscular Atrophy (SMA)
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Neurobiology".
Deadline for manuscript submissions: 30 November 2024 | Viewed by 206
Special Issue Editor
Interests: neurology; neurophysiology; motor neuron disease; stroke; dementia; multiple sclerosis; neuromuscular disorders; meta-analysis; systematic review; spinal muscular atrophy
Special Issue Information
Dear Colleagues,
Spinal muscular atrophy (SMA) is a rare, autosomal recessive, motor neuron neurodegenerative disease presenting a wide phenotypic variability. SMA therapeutic landscape has been dramatically transformed with the introduction of three (nusinersen, onasemnogene abeparvovec, and risdiplam) disease-modifying therapies (DMTs) that increase the level of survival motor neuron (SMN) protein during the last decade. With the advent of these DMTs and with the constant enrichment of SMA drug pipeline there is an unmet need to identify the most sensitive, reliable, and easy to implement biomarkers that could depict SMA natural history , guide treatment selection & monitor therapeutic response in patients of various types (0 to 4) and ages (infants, children, adolescents and adults).
An ideal biomarker would depict the severity of structural changes in neurons and muscles, differentiate patients from controls, identify different SMA types, detect subtle disease progression over the short duration of a clinical trial and demonstrate the effect of therapeutic interventions. Therapeutic biomarkers pave the way towards an individualized approach through the facilitation of treatment onset or discontinuation decisions; decisions of paramount importance considering the high-cost of these lifelong novel DMTs. However, significant steps need to be made before a personalized medicine approach could be achieved in SMA. The identification and validation of biomarkers in SMA require sophisticated molecular techniques, including genomic sequencing, proteomics, and bioinformatics. Understanding the molecular pathways affected by SMA can lead to the discovery of new biomarkers. For example, research into the role of neurotrophic factors, RNA splicing, and autophagy in SMA pathogenesis may uncover novel targets for therapy.
This Special Issue aims to gather all available evidence on application of biomarkers in SMA. We wish to invite investigators closely related disciplines to contribute original articles, reviews, communications.
Dr. Maria Gavriilaki
Guest Editor
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Keywords
- spinal muscular atrophy
- nervous system diseases
- therapeutics
- drug discovery and development
- natural history
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