A rare genetic disorder is treated in the womb for the first time

A two -and -a -half -year -old girl does not appear any signs of a rare genetic disorder, after she became the first person to treat the neuron engine while he is in the womb. The mother of the child took the medicine that targets genes during late pregnancy, and the child continues to take it.

“The child has been treated effectively, with no manifestations of the case,” says Michel Varrar, a neurologist at the University of Australia in Australia. The results were published in New England Magazine for Medicine yesterday.

The child was imagined in a genetic condition known as spinal muscle atrophy, which affects the motor nerve cells that control movement, and leads to weakening the gradual muscles. About one in every 10,000 births has a form of condition – which makes it a major genetic cause of death in infants and children.

In the most severe forms, as in the case of this child, individuals lack both copies of Smn1 The gene, and it has only two or copies of the adjacent gene, Smn2And this partially compensates for this deficiency. As a result, the body does not produce enough protein required to maintain motor nerve cells in the spinal cord and the body of the brain. This protein is the most important in the second and third third, and the first few months of life. Children with severe disease do not live usually exceeding their third birthday.

In the past decade, the US Food and Drug Administration (FDA) has agreed to three drugs to treat newborns for spinal muscular atrophy. The oral medicine used in this study, is called Risdiplam, manufactured by the Biotechnology company ROCE, based in Basel, Switzerland, is a small molecule that works by modifying the expression of Smn2 The gene is producing more SMN protein.

So far, spinal muscle atrophy has been given after birth. But up to half of the newborns lacks two copies of Smn1 The gene and with only two copies of Smn2 The gene is born with some symptoms. “There is still room for improvement,” said Richard Venkel, a clinical neuroscientist at St. Jude Research Hospital in Memphis, Tennessee, who led the study.

Parents’ suggestion

The idea of ​​giving the medicine In the womb He came from the parents, as Venkel says. “They have already suffered from a loss of this terrible disease,” he says, and they wanted to know if there were treatment options that could start before birth. The FDA has agreed to study for this individual.

The mother, who was pregnant in 32 weeks, took Risdiplam a day for six weeks. The child has started taking the medicine for almost a week, and he may continue to take it for the rest of her life.