Initial Findings and Treatment Details
A 2-year-old girl treated in utero for (SMA) with the drug risdiplam shows no signs of the disorder, marking a significant advancement in prenatal intervention for a condition that typically leads to early mortality.
Risdiplam, the first oral medication approved for SMA, was administered to the child's mother during the last weeks of pregnancy, following the parents' request due to a previous loss to the disease. The approved the study, which has now led to further research on prenatal treatment.
Implications and Future Research
SMA, affecting approximately 1 in every 6,000 to 11,000 births, hinges on the absence of survival motor neuron protein, crucial for muscle and nerve function. The success of this case suggests potential for broader prenatal SMA interventions.
The positive outcome of the treatment, emphasizing safety, feasibility, and tolerability, encourages further comprehensive studies to explore prenatal interventions for SMA, aiming to improve outcomes before birth.