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August 15, 2025New England Journal of Medicine

Risdiplam in Presymptomatic Spinal Muscular Atrophy

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Authors

RFRichard S. FinkelTGTeresa GidaroDVD. Vlodavets

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Overview

Open-label trial shows improved outcomes in infants with SMA, indicating risdiplam's potential benefits for presymptomatic treatment.

Key Points

  • After 12 months, 81% of infants treated with risdiplam could sit unsupported, a significant improvement over historical data.
  • Infants with genetically diagnosed SMA and two SMN2 copies showed promising functional outcomes after treatment, improving survival without ventilation support.
  • Open-label assessment of daily oral risdiplam was conducted in infants aged 1 day to 42 days, focusing on motor milestones and survival.
  • These findings suggest early treatment may alter the expected severe progression of SMA, highlighting the need for further studies.

Cite This Study

Finkel et al. (2025) studied this question.

synapsesocial.com/papers/68a34f63234c60ad5c20bc2bhttps://doi.org/10.1056/nejmoa2410120
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Longitudinal efficacy of risdiplam treatment in Chinese children with spinal muscular atrophy2025
  2. 2Safety of Risdiplam in Japanese Patients with Spinal Muscular Atrophy: A 12‑Month Interim Analysis of a Postmarketing Surveillance Study2025 · 1 citations
  3. 3Clinical and motor functional evaluation of patients with bi-allelic disease-causing variants in SMN1 gene and two copies of SMN2 treated in the pre-symptomatic stage2024
  4. 4Neurofilaments as Biomarkers of the Efficacy of Risdiplam Treatment in Early SMA Phenotypes Diagnosed by Newborn Screening2025
  5. 5Survival motor neuron protein is the optimal biomarker for evaluating the risdiplam treatment2025 · 4 citations