Parents had already lost a child because of this disease. They were clearly able to try everything so that their daughter could survive. One in 10,000 birth presents one form or another of this disease.
Rare, serious and hereditary genetic disease
According to an article published by nature on February 20, 2025, a rare genetic disease was treated in utero For the very first time in the history of medicine. Today, the little girl who has benefited from this treatment is two and a half years old, and has absolutely no sign of this disease that affects motorcycleurons (cells that control the body's muscles and transport motor skills).
More specifically, the disease with which the child has been designed is called “Progressive muscular atrophy”, Either a hereditary degenerative disease that affects the lower motor neuron. In the most serious cases (in this case, with regard to this child), “The body does not produce enough proteins necessary to maintain the motorcycleurons of the spinal cord and the brainstem”.
A treatment started In utero
The child was therefore condemned not to survive beyond his three years. Over the past ten years, drugs to treat this disease in newborns have been developed by Food and Drug Administration (FDA). Among them, Risdiplam, a small molecule made in Switzerland “which acts by modifying the expression of the SMN2 gene so that it produces more SMN protein ”as explained by the article by nature.
As Richard Finkel explains, clinical neuroscientist at St. Jude Children's Research Hospital in Memphis, in Tennessee, parents had the idea of administering this medication to the newborn in utero. Consequently, the mother, then six weeks pregnant, took risudiplam every day for six weeks.
The earlier, the better it's
As for the baby, once given birth, he started taking the medication from his first week, and will surely be forced to take it all his life. According to analyzes of amniotic fluid and umbilical cord, the drug has reached the fetus. So far, the child has shown no sign of muscle weakness!
Verdict: If all these good news is obviously very reassuring, Richard Finkel recommends that the child be put under medical surveillance all his life. This study testifies to the importance of starting treatment as soon as possible, even before birth, according to Michelle Farrar, a pediatric neurologist at the University of South Wales in Sydney, Australia.
With an unwavering passion for local news, Christopher leads our editorial team with integrity and dedication. With over 20 years’ experience, he is the backbone of Wouldsayso, ensuring that we stay true to our mission to inform.
