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Outcomes of early-treated infants with spinal muscular atrophy: A multicenter, retrospective cohort study
Natalie L Goedeker1, Amanda Rogers2, Mark Fisher3
1Department of Neurology, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.
Insights
Early treatment for spinal muscular atrophy (SMA) in infants improves outcomes, with all patients achieving independent sitting. However, children with two SMN2 copies show persistent disability, highlighting the need for further research into advanced therapies.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Early identification and treatment of spinal muscular atrophy (SMA) are crucial for improving patient outcomes.
- Variability in treatment response and long-term outcomes persists despite advancements in early intervention.
Purpose of the Study:
- To assess the management and outcomes of infants with SMA who received early treatment (≤6 weeks of age).
- To compare outcomes between infants with two SMN2 copies versus those with three or more SMN2 copies.
Main Methods:
- Retrospective analysis of data from 12 centers, including 66 infants with SMA treated at or before 6 weeks of age.
- Evaluation of treatment strategies, including monotherapy (onasemnogene abeparvovec, nusinersen) and sequential/combination therapies.
- Assessment of motor milestones (independent sitting, walking) and respiratory/nutritional support requirements.
Main Results:
- All 66 infants achieved independent sitting; none required permanent ventilation or exclusive enteral nutrition.
- Infants with two SMN2 copies were significantly less likely to walk independently (68%) and walk on time (26%) compared to those with ≥3 SMN2 copies (100% and 94%, respectively).
- 38% of patients had SMA-related findings before initial treatment, and 47% received onasemnogene abeparvovec, while 29% received nusinersen.
Conclusions:
- Early treatment of SMA in infants leads to significant improvements, with all patients achieving key milestones like independent sitting.
- Despite early intervention, children with two SMN2 copies exhibit ongoing disability, underscoring the need for enhanced therapeutic strategies.
- Further research into earlier monotherapy, combination treatments, prenatal interventions, and non-SMN modifying therapies is warranted to optimize SMA management.
Introduction/Aims:
While prompt identification and treatment of infants with spinal muscular atrophy (SMA) can ameliorate outcomes, variability persists. This study assessed management and outcomes of early-treated infants with SMA.
Methods:
We analyzed retrospective data at 12 centers on infants with SMA treated at age ≤6 weeks from August 2018 to December 2023.
Results:
Sixty-six patients, 35 with two SMN2 copies and 31 with ≥3 SMN2 copies, were included. Twenty-five (38%, 22 with two SMN2 copies), had SMA findings before initial treatment which was onasemnogene abeparvovec in 47 (71%) and nusinersen in 19 (29%). Thirty-two received sequential or combination treatments, including 16 adding nusinersen or risdiplam due to SMA findings following onasemnogene abeparvovec. All sat independently. Compared to children with ≥3 SMN2 copies, those with two SMN2 copies were less likely to walk (23/34 [68%] vs. 31/31 [100%], p < .001) and less likely to walk on time (9/34 [26%] vs. 29/31 [94%], p < .001); one non-ambulatory child was <18 months old and was excluded from this analysis. No patients required permanent ventilation or exclusively enteral nutrition; six required nocturnal non-invasive ventilation and four utilized supplemental enteral nutrition, all with two SMN2 copies.
Discussion:
Early treatment of infants with SMA can improve outcomes as indicated by our cohort, all of whom sat independently and are without permanent ventilation. However, our study demonstrates ongoing disability in most children with two SMN2 copies despite early monotherapy and emphasizes the need for additional research, including earlier monotherapy, initial combination therapy, prenatal treatment, and non-SMN modifying treatments.
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