A groundbreaking treatment has been pioneered, marking a world-first, to treat a rare and potentially deadly genetic disorder while still in the womb. A child born with spinal muscular atrophy (SMA) type 1, a condition that typically leads to death before the age of two, has survived past the age of two without any signs of the disease.
The infant was treated with the FDA-approved drug risdiplam, which is usually administered after birth. However, due to special clearance from the FDA, the medication was given to the fetus in the womb upon request from the parents. The treatment was initiated at 32 weeks of pregnancy and continued for six weeks, with the baby receiving an oral dose shortly after birth.
Results show that the infant exhibited higher levels of SMN protein and less nerve damage than typical babies born with SMA type 1. Since birth, the child has displayed no signs of abnormal muscle development, offering a reassuring outcome for this rare condition.
While this result is based on only one case, researchers hope to investigate if these findings can be replicated in larger studies. The pioneering treatment suggests that starting genetic conditions like SMA before birth may lead to more effective management and improved outcomes.
Note: This article is for informational purposes only and does not provide medical advice.
Source: https://www.livescience.com/health/medicine-drugs/deadly-motor-neuron-disease-treated-in-the-womb-in-world-1st