In a historic medical breakthrough, a child born with spinal muscular atrophy (SMA), a severe motor neuron disease, exhibits no symptoms after receiving prenatal treatment with the gene-targeting drug Risdiplam. This pioneering intervention, documented in the New England Journal of Medicine, marks the first instance of treating SMA before birth.
The treatment involved administering Risdiplam to the mother during the final stages of pregnancy, which was then transferred to the fetus, significantly improving the newborn’s survival motor neuron (SMN) protein levels. This crucial protein helps prevent nerve damage and is vital during the later stages of fetal development and early infancy. Compared to other newborns with SMA, the treated child showed higher SMN protein levels and substantially less nerve damage.
"The child’s health is in a very reassuring state,” said Richard S. Finkel, M.D., a leading researcher at St. Jude Children’s Research Hospital. “However, lifelong treatment and management will be necessary going forward." This treatment may pave the way for future prenatal interventions for various genetic disorders, potentially redefining treatment protocols and improving outcomes.
The U.S. Food and Drug Administration (FDA) has previously approved three drugs for treating newborns with SMA, but this marks a significant shift towards prenatal treatment. Dr. Finkel emphasized the importance of early intervention, stating, "The results suggest it would be worthwhile to continue investigating the use of prenatal intervention for SMA."
This promising development offers new hope for families affected by genetic disorders, highlighting a significant advancement in medical science and the potential for extending these methods to other conditions.
