A two -year -old girl is the first person treated by motorcycle disease, severe spinal muscular atrophy, directly in the uterus. Therapy, as explained by an investigation in the magazine ‘NEJM‘He has made the girl free of … This rare genetic disorder.
The girl was diagnosed with spinal muscular atrophy, which affects motor neurons that control movement and causes progressive weakening of the muscles, during pregnancy.
Approximately one in 10,000 births have some form of this disease, which makes it one of the main genetic causes of death in infants and children.
In their most serious form, as in the case of this girl, affected people lack both copies of the SMN1 gene and only have one or two copies of a neighboring gene, SMN2, which partially compensates for that deficiency. This causes the body not to generate enough protein necessary to maintain motor neurons in the spinal cord and the brain trunk. This protein is more important in the second and third quarter, and in the first months of life. Babies with serious illness generally do not survive beyond their third years.
In Spain, between 800 and 1,000 people suffer from this pathology, which causes loss of muscle strength and affects basic activities such as walking, speaking or breathing. It is caused by a mutation in the SMN1 gene, which produces a deficiency of the essential SMN protein for the functioning of the nerves that control the muscles.
On this occasion, the oral medication used by researchers of the Jude Children’s Research Hospital in Memphis-Tennessee (USA) It was Risdiplam, manufactured by Roche. It is a molecule that acts by modifying the expression of the SMN2 gene to produce more SMN protein. The medicine is approved in Spain by the Ministry of Health since 2023.
Until now, treatments for spinal muscular atrophy were administered after birth. But half of the newborns who lack both copies of the SMN1 gene and have only two copies of the SMN2 gene are born with some symptoms. “There was still margin to improve,” says Richard Finkel, a clinical neuroscientist of St. Jude Children’s Research Hospital in Memphis, Tennessee, who led the study.
The idea of managing the medication in the uterus came from the girl’s own parents, says Finkel. “They had already experienced a loss due to this horrible disease,” he says, and wanted to know if there were treatment options that could begin before birth.
The FDA approved the study for this unique case.
The mother, who was 32 weeks pregnant, took the medicine daily for six weeks. The baby began to take the medication at approximately one week, and will probably continue to take it for the rest of her life.
The amniotic fluid tests and the blood of the umbilical cord at the time of childbirth suggest that the medication was reaching the fetus. Compared to other babies born with the same disease, the girl had higher levels of the SMN protein in the blood and showed lower levels of nervous damage.
The baby was born apparently normal, but a cardiac breath was identified due to a defect of the ventricular septum, which was treated. Genetic tests did not identify additional disorders, such as variants in genes associated with septoptic dysplasia. No characteristics of atrophy have been observed, and periodic motor function studies, muscular and electrophysiological ultrasound show a normal development of peripheral nerves and muscles.
So far it has not shown signs of muscle weakness and has normal muscle development. «That is obviously very reassuring», Says Finkel, who recommends a monitoring for the girl’s life.
Although it is a single person, researchers underline that “how important the early treatment is. The therapeutic window we are pointing out is very narrow ».
The positive result opens the door to larger studies to see if the findings can be replicated.
And also raises the possibility of treating other genetic pathologies in the uterus when treatment after birth is insufficient.
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