For the first time in medical history, a fetus with spinal muscular atrophy type 1 (SMA) has been treated while still in the womb.
A study published in the New England Journal of Medicine describes the success of a team of doctors in the US in treating a fetus with spinal muscular atrophy type 1 (SMA) – a rare, rapidly progressive disease that severely weakens the muscles, leaving the child unable to move or breathe.
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| A breakthrough in treating SMA in the womb not only opens up a chance of survival for children with rare genetic diseases, but also marks an important step forward in modern medicine. |
Previously, most children with SMA type 1 did not live past the age of two. The mother in this study had lost her first child to SMA and agreed to take part in a groundbreaking medical trial.
For six weeks before giving birth, she was given daily Risdiplam, a drug that boosts the survival motor neuron (SMN) protein, which is severely deficient in SMA patients. This protein plays a key role in protecting motor neurons in the brain and body.
Risdiplam was previously approved by the US Food and Drug Administration (FDA) only for the treatment of children two months of age and older.
However, the FDA has granted special permission for this case. During the time the mother was taking the drug, tests showed that the drug passed through the umbilical cord into the amniotic fluid, providing essential nutrients to the fetus.
After birth, the baby continued to be treated with Risdiplam daily and the initial results were very positive. According to pediatric neurologist Michelle Farrar, a leading expert on SMA in Australia, the girl is now 30 months old without any symptoms of the disease.
In an interview with Aleteia , Kelly Mantoan, author of the book Better than ok: Finding joy as a special-needs parent, expressed her joy at this medical advancement.
A mother of five, two of whom have SMA and are being treated with Risdiplam, Mantoan said: “When my children were diagnosed with SMA, there were no FDA-approved treatments. But today, there are three drugs, including Risdiplam.
SMA is no longer considered a death sentence, but a treatable disease, helping to save countless children with SMA and improve the quality of life of children and adults with the disease. This is truly a miracle that mothers like me have prayed for for many years."
The breakthrough in treating SMA in the womb not only opens up the chance of survival for children with rare genetic diseases, but also marks an important step forward in modern medicine.
This research could pave the way for earlier treatments for other genetic diseases, bringing hope to millions of families around the world.
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