Abstract
Increasingly effective targeted precision medicine is either already available or in development for a number of genetic childhood movement disorders. Patient-centred, personalized approaches include the repurposing of existing treatments for specific conditions and the development of novel therapies that target the underlying genetic defect or disease mechanism. In tandem with these scientific advances, close collaboration between clinicians, researchers, affected families, and stakeholders in the wider community will be key to successfully delivering such precision therapies to children with movement disorders. What this paper adds Precision medicine for genetic childhood movement disorders is developing rapidly. Accurate diagnosis, disease-specific outcome measures, and collaborative multidisciplinary work will accelerate the progress of such strategies.
Highlights
Effective targeted precision medicine is either already available or in development for a number of genetic childhood movement disorders
Patient-centred, personalized approaches include the repurposing of existing treatments for specific conditions and the development of novel therapies that target the underlying genetic defect or disease mechanism
The study results suggest that while iron accumulation is an important factor in Pantothenate kinase-associated neurodegeneration (PKAN) pathogenesis, it is still a secondary phenomenon downstream of the primary molecular defect; this may explain the limited benefit observed with chelation in this trial
Summary
Effective targeted precision medicine is either already available or in development for a number of genetic childhood movement disorders. Precision medicine approaches aim to accelerate the development of effective therapies for patients based on the underlying disease-specific characteristics This is important given that the vast majority of childhood movement disorders continue to have poor outcomes, with symptomatic relief or palliation being the major therapeutic goal rather than disease modification or cure. Neuroimaging The increasing accessibility of large-scale neuroimaging data sets, availability of automated processing methods, and utility of machine learning are being harnessed to accelerate translational research for personalized medicine approaches.[4] In adult neurodegenerative conditions, it has facilitated the development of neuroimaging biomarkers, improved the understanding of disease mechanisms, formulated survival predictions, and embedded quantitative techniques into clinical workflow.[5] In childhood movement disorders, the increasingly recognized characteristic patterns of structural changes evident on neuroimaging (e.g. in the cerebellum[6] and/or basal ganglia7) is helping clinicians to make an accurate genetic diagnosis sooner. The difficulty in recruiting sufficient numbers and an inevitably small
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