Doctor of Nursing Practice
Date of Defense
Early treatment of infants with spinal muscular atrophy (SMA) improves outcomes. Newborn screening allows for early treatment of infants with SMA, even before signs of the disease are evident. In spite of early identification and treatment, newborn screen and prenatally-identified infants with SMA may still suffer effects of their disease. Approximately half of infants have significant gross motor developmental delays, while others meet developmental milestones on time. There is no current objective method to identify early-treated infants with SMA at risk for gross motor delays who might benefit from modifications to current treatment practices.
This multicenter project reports real world data on outcomes of early-treated infants with SMA.
Retrospective chart review of all newborn screen identified or prenatally diagnosed children with SMA who were treated with nusinersen or onasemnogene abeparvovec at
Results: Sixty-five patients, 36 with two SMN2 copies, 28 with three SMN2 copies, and one with four SMN2 copies, were included. Twenty-seven patients (41.5%), most with two SMN2 copies, had SMA symptoms by initial treatment. Forty-six (71%) received initial treatment with onasemnogene abeparvovec, and 19 (29%) with nusinersen. Infants with two SMN2 copies had greater frequency of gross motor delays than those with >=three SMN2 copies. No child required permanent ventilation or total nutrition via tube feeds, but seven required nocturnal non-invasive ventilation and seven utilized both oral and tube feedings. Thirty-one received sequential or combination treatments, including 15 adding treatment with nusinersen or risdiplam due to SMA symptoms or suboptimal outcome following onasemnogene abeparvovec.
Conclusions: This study contributes to the limited literature on real world outcomes of early treated infants with SMA, including if baseline pre-treatment CHOP INTEND score can predict gross motor delays in this population.
Goedeker, Natalie, "Predicting Outcomes in Early Treated Spinal Muscular Atrophy (SMA)" (2023). Dissertations. 1330.
Available for download on Thursday, August 06, 2026