Scientists at St. Jude Children’s Research Hospital have achieved a groundbreaking milestone in treating spinal muscular atrophy (SMA) by administering the orally administered drug risdiplam to a fetus with SMA-1 before birth.
The study, published in the New England Journal of Medicine, shows that treatment can lead to a complete disappearance of symptoms and a healthy outcome for the child. The findings demonstrate the feasibility and safety of prenatal intervention for SMA, paving the way for further research into this approach.
SMA is a progressive neurodegenerative disorder affecting around 1 in every 11,000 births in the US. If left untreated, it leads to severe muscle weakness and death. Current treatments have improved survival rates but are not a cure.
In this case study, risdiplam was administered to the mother during the final six weeks of pregnancy, and when the child was born, no identifiable features of SMA were observed. The child is now two-and-a-half years old and continues to be monitored at St. Jude.
The research suggests that starting treatment for a fetus with SMA-1 in utero could lead to better outcomes. Survival motor neuron protein, essential for fetal development, is most needed during the third trimester of pregnancy and the first three months after birth.
While there are challenges associated with prenatal intervention, the study’s results demonstrate the potential benefits and encourage further investigation into this approach.
Source: https://www.stjude.org/media-resources/news-releases/2025-medicine-science-news/promising-results-from-first-prenatal-therapy-for-spinal-muscular-atrophy.html