Researchers determined that the early diagnosis of spinal muscular atrophy (SMA) and the early initiation of treatment are key strategies to improve patient outcomes and presented their findings at the 2022 Muscular Dystrophy Association Clinical & Scientific Conference.

Nusinersen is a drug that has demonstrated significant improvements in clinical outcomes for patients with SMA of all ages who have initiated treatment after the onset of symptoms.

The current clinical trial presented by Crawford and colleagues studies the effects of initiating nusinersen treatment at the presymptomatic stage of SMA. Interim results from the trial after a median of 3.8 years of follow-up revealed clear benefits of initiating nusinersen early.

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To conduct this study on presymptomatic patients with SMA, researchers enrolled infants thought most likely to develop SMA type 1 or 2. They will be followed up until around 8 years of age. The primary endpoint of this study is the time to death or respiratory intervention.

Read more about SMA etiology 

The poster presented at the conference details results from the trial after a median of 4.9 years of follow-up (around 1 year after their last report). All children were alive, with none requiring permanent ventilation. Four children with 2 SMN2 copies required respiratory intervention continuously for 7 days or more as of the data cutoff date.

The study also revealed that motor function, as assessed by the Hammersmith Functional Motor Scale, continues to improve among participants, indicating that the presymptomatic initiation of nusinersen is beneficial. In addition, nusinersen was found to be well tolerated, with no new safety concerns reported.


Crawford TO, Kirschner J, Ryan MM, et al. Nusinersen effect in infants in the presymptomatic stage of SMA: 4.9-year interim of the NURTURE study. Poster presented at: 2022 Muscular Dystrophy Association Clinical & Scientific Conference; March 13-16, 2022; Nashville, TN. Poster 71.