For the first time, doctors have treated a fetus for a serious form of a rare genetic disease. To fight the disease, which, if left untreated, usually results in death before the age of two, the medical team passed an enzyme through the umbilical cord to the fetus in the womb.
Today, the child, named Ayla, is 16 months old and developing normally, New statistics‘ reports Andrew Joseph. Every week, she receives medication with an enzyme that her body does not produce on its own.
“We’re cautiously optimistic, but we want to be cautious and monitor throughout the patient’s life,” says Jennifer Cohen, a pediatric geneticist at Duke University. Scientific news‘ Erin Garcia de Jesus. “Especially those first five years, I think, are going to be critical to see how she’s doing.”
Cohen and his colleagues published a case study on Ayla last week in the New England Journal of Medicine. This is “essential proof-of-concept work” and “a building block for better understanding…the benefits of prenatal enzyme therapy,” said Yin-Hsiu Chien, a medical geneticist at the hospital. National Taiwan University who did not contribute to the research. Scienceit is Jocelyn Kaiser.
Ayla has childhood-onset Pompe disease, a condition that affects less than 1 in 100,000 babies, according to New statistics. With Pompe, low levels or absence of a certain enzyme leads to the buildup of a sugar called glycogen. This, in turn, causes muscle weakness and heart enlargement. Two of Ayla’s older siblings died aged 2 years and 8 months from the same condition, according to the New York Times‘ Gina Kolata.
Doctors can treat conditions like Pompe by giving babies the enzymes their bodies don’t produce. But infantile Pompe disease begins to damage muscles irreversibly before the baby is born, according to the Time.
Doctors have already performed surgeries in the womb and given blood transfusions to fetuses, writes Jonel Aleccia of The Associated Press (AP). So Cohen and his colleagues decided to try enzyme replacement therapy in utero and started a clinical trial in San Francisco.
Ayla’s parents, who live in Canada, were unable to travel to San Francisco due to the Covid-19 pandemic, according to the Time. But doctors found a way to administer the treatment in Canada, which began when Ayla’s mother was 24 weeks pregnant. They delivered six doses of the enzyme, with each dose received two weeks after the previous dose.
Since then, Ayla has been developing normally, has no signs of the heart problems seen in babies with Pompe and learned to walk at 11.5 months, just like an average child, by Science.
Meanwhile, the ongoing clinical trial will use enzymes to treat fetuses with eight types of lysosomal storage diseases such as Pompe, for Science. Two additional fetuses have received treatment so far, according to the publication.
The trial will also determine the risks and benefits of the treatment, said Tippi MacKenzie, a pediatric and fetal surgeon at the University of California, San Francisco and one of the trial leaders. New statistics.
“It’s going to take a while to really be able to establish the evidence to definitely show that the results are better,” Christina Lam, a doctor at Seattle Children’s Hospital who was not involved in the research, told the AP. .
Doctors knew to look for Pompe in Ayla before she was born because of her family history, but most children with Pompe are diagnosed after birth, notes New statistics. This treatment would only benefit patients whose disease was detected earlier. But for other families with a history of genetic conditions, Ayla’s case might provide some hope, New statistics reports.
Bill Peranteau, a pediatric and fetal surgeon at Children’s Hospital of Philadelphia who did not contribute to the research, says Scientific news that the promising results of Ayla’s treatment so far are “a big step forward”.
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