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Updated: Sep 11, 2025

Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides

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Risdiplam in Presymptomatic Spinal Muscular Atrophy.

Richard S Finkel¹, Laurent Servais^2,3, Dmitry Vlodavets⁴

¹Center for Experimental Neurotherapeutics, Department of Pediatric Medicine, St. Jude Children's Research Hospital, Memphis, TN.

The New England Journal of Medicine

|August 13, 2025

Summary

This summary is machine-generated.

Early risdiplam treatment for infants with spinal muscular atrophy (SMA) shows promising functional and survival benefits. This oral splicing modifier may improve outcomes before clinical symptoms manifest, warranting further research.

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Area of Science:

Pediatric Neurology
Genetics and Gene Therapy
Drug Development

Background:

Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder.
Risdiplam is an oral splicing modifier approved for symptomatic SMA.
Efficacy and safety of risdiplam in presymptomatic SMA are not well-established.

Purpose of the Study:

To evaluate the safety and efficacy of risdiplam in infants with genetically diagnosed SMA before symptom onset.
To assess functional outcomes and survival rates in infants treated presymptomatically.

Main Methods:

An open-label study involving infants (birth to 42 days) with genetically confirmed SMA.
Daily oral risdiplam administration (0.2 mg/kg).
Primary outcome: ability to sit without support at 12 months for infants with two SMN2 copies and specific CMAP amplitude.

Main Results:

After 12 months, 81% of infants could sit unsupported; 42% could walk alone.
At 24 months, all treated infants survived without permanent ventilation or feeding support.
Nine mild, treatment-related adverse events were reported in 7 infants over 24 months.

Conclusions:

Presymptomatic risdiplam treatment in infants with SMA appears to improve functional and survival outcomes compared to natural history data.
Further controlled studies with longer follow-up are necessary to confirm efficacy and safety.
RAINBOWFISH trial (NCT03779334) provides preliminary evidence for early SMA intervention.