In what is being hailed as a medical breakthrough, doctors have successfully treated spinal muscular atrophy (SMA) type 1 in a baby while still in the womb. The case, published in The New England Journal of Medicine, marks the first-ever prenatal treatment for the rare genetic disorder.
SMA is a condition that weakens muscles and limits movement by attacking motor neurons. It affects one in 10,000 live births, and SMA type 1 is the most severe form. The baby’s parents had already lost a child to the disease, and genetic testing confirmed that this fetus carried mutations in both SMN1 genes, indicating a high risk of developing SMA.
Breakthrough Prenatal Treatment
At 32 weeks of pregnancy, doctors administered risdiplam, a drug previously only given after birth, to the mother. She took the FDA-approved medication daily for six weeks. Once the baby was born, she continued receiving oral doses.
The results were groundbreaking higher SMN protein levels and less nerve damage than typically seen in SMA type 1 cases. Nearly three years after birth, the child has shown normal muscle development and no signs of the disorder.
Though the child may need lifelong monitoring and medication, this case paves the way for early intervention treatments that could prevent the devastating effects of SMA before birth.
