First In-Womb Treatment for Spinal Muscular Atrophy Shows Promising Results

A two-year-old girl remains symptom-free after receiving prenatal therapy for a severe genetic disorder, marking a groundbreaking step in medical research.

Scientists at St. Jude Children's Research Hospital conducted the first-ever in utero treatment for spinal muscular atrophy (SMA) using the drug risdiplam.
The child, now two-and-a-half years old, shows no signs of SMA, a genetic disorder that typically causes severe muscle weakness and is often fatal by age two in its most severe form.
The treatment targeted SMA Type 1, the most severe form, by administering risdiplam to the mother during her final six weeks of pregnancy, followed by continued postnatal use of the drug.
SMA is caused by a deficiency in survival motor neuron (SMN) protein, and the drug works by increasing production of this essential protein.
Researchers emphasize the safety and feasibility of this approach, calling for further studies to explore prenatal interventions for SMA and similar conditions.