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September 10, 2025ChildrenOpen Access

Neurofilaments as Biomarkers of the Efficacy of Risdiplam Treatment in Early SMA Phenotypes Diagnosed by Newborn Screening

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Authors

ICInmaculada Pitarch CastellanoNGNancy Carolina Ñungo GarzónKAKarolina Aragon-Gawińska

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Overview

Observational analysis shows effects of risdiplam treatment on SMA evolution in infants, suggesting neurofilaments may inform treatment adjustments.

Key Points

  • Monitoring neurofilament light chains during risdiplam treatment can indicate treatment efficacy for SMA.
  • In this observational analysis, two infants with SMA treated at one month showed varying outcomes after 12 months.
  • Familial adherence to oral treatment proved crucial in preventing the evolution from presymptomatic to symptomatic SMA.
  • This analysis suggests the integration of neurofilament biomarkers could enhance treatment management in newborns diagnosed with SMA.

Cite This Study

Castellano et al. (2025) studied this question.

synapsesocial.com/papers/68c23abeb210217d647816fahttps://doi.org/10.3390/children12091170
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