Unborn Baby Receives First-Ever Treatment For Motor Neuron Disease (Image Credits: iStock, Image For Representation)
A baby diagnosed with a rare and life-threatening genetic disorder was successfully treated while still in the womb, and she is now over two years old with no signs of the disease. This is the first time spinal muscular atrophy (SMA), a severe motor neuron disease, has been treated before birth, according to a report published in The New England Journal of Medicine on February 19.
The condition, specifically SMA type 1, is the most common and severe form of the disease. Without treatment, children with this disorder often do not survive beyond their second birthday. However, in this case, the baby has shown no symptoms of the disease, offering hope for future treatments before birth.
What is Spinal Muscular Atrophy (SMA)?
SMA is an inherited disorder that affects nerve cells in the spinal cord, which control muscle movement. Over time, these nerve cells weaken and eventually die, leading to muscle wasting. This can cause difficulties in breathing, swallowing, and movement. SMA affects approximately 1 in every 10,000 live births.
The disease is caused by mutations in the SMN1 gene, which is responsible for producing the survival motor neuron (SMN) protein. This protein is essential for the proper functioning of nerve cells that control muscles. When there isn't enough SMN protein, nerves struggle to send signals to the muscles, leading to muscle weakness and loss of function.
SMA has five different types, classified based on symptom severity and when they appear. The most severe form, SMA type 1, begins in the first six months of life. Infants with this condition develop severe muscle weakness, have trouble swallowing and breathing, and often do not survive without treatment or ventilator support. SMA type 1 is the leading genetic cause of infant death.
Early Diagnosis and Treatment
The baby in this case was diagnosed with SMA type 1 while still in the womb. Her parents, who had previously lost a child to the same disease, opted for genetic testing during pregnancy. The tests confirmed that their unborn daughter carried the same SMN1 gene mutations.
With this knowledge, doctors decided to try an early intervention using the drug risdiplam (brand name: Evrysdi), which had already been approved for treating SMA in infants. This medication helps the body increase SMN protein production by activating a backup gene called SMN2. However, it had never been given to a baby before birth.
How Was the Treatment Given?
Since risdiplam is normally approved for infants over two months old, the U.S. Food and Drug Administration (FDA) granted special permission for its early use in this case. The mother began taking the medication daily at 32 weeks of pregnancy for six weeks.
Doctors later confirmed that the drug had reached the baby’s system before birth. After delivery, the baby continued receiving the medication orally.
Positive Results After Birth
At birth, doctors observed that the baby had higher-than-normal levels of SMN protein and showed minimal nerve damage, unlike other infants born with SMA type 1. Over the next two years, she continued to develop normally, without any muscle weakness or difficulty in movement.
“That’s obviously very reassuring,” said Dr Richard Finkel, a clinical neuroscientist at St. Jude Children's Research Hospital in Memphis, Tennessee, who led the study.
The child will need to take risdiplam for the rest of her life and will be closely monitored for any changes in her muscle function.
A Breakthrough for Genetic Disease Treatment?
This case suggests that treating SMA and possibly other genetic conditions before birth may improve outcomes. While this is only one case, researchers are hopeful that similar treatments can be tested in larger studies to see if they work consistently.
“We now have evidence that early treatment may prevent the disease from developing at all,” Dr Finkel said. “This could change how we treat genetic diseases in the future.”
Further studies will be needed to confirm whether this approach can be widely used, but for now, this successful case brings hope to families affected by SMA and similar conditions.
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