Doctors successfully treated a prenatal genetic disorder

Pregnancy can be a time of intense emotions for everyone involved. just revisit Pregnant, Judd Apatow’s 2007 romantic comedy, as an example. Seeing that little line on a home test or getting your first ultrasound can be one of the happiest and most stressful moments in a person’s life. It can also be one of the scariest, especially if you find out that your unborn child has a fatal disorder.

That was the situation for two parents from Ottawa. Twice before, they had had children who died young, one at two years old and the other at 8 months, from a rare genetic disorder known as infantile-onset Pompe. Now they had another child on the way and a recent diagnosis that she also had Pompe. They were looking at another tragedy unless someone could Swoop in to save the day. That someone was Dr. Tippi MacKenzie, a pediatric surgeon at the University of California, San Francisco.

Dr. MacKenzie had previously fetuses treated with a hemoglobin disorder giving them blood transfusions through the umbilical cord. The success of that practice made her think that a similar method could be used to treat fetal enzyme disorders. After success using the method in rats, the FDA suggested that Dr. MacKenzie begin a human clinical trial, targeting fetuses with enzyme disorders that had approved enzyme treatments.

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Due to family history, two previous children with Pompe knew how to look for him and signed up for the trial. The results of that trial were recently published in The New England Journal of Medicine. The baby was born healthy and is around 16 months old at the time of writing this article. Her parents named her Ayla and she is developing normally, apparently unfazed by the enzyme disorder that could have sent her down a very different path.

To understand how doctors managed a biological caper to save a life, we first need to talk about infantile bubbles. It affects less than one baby in 100,000, though it obviously gave this particular family more than its fair share. People with Pompe have low levels of certain enzymes, if measurable levels at all, which leads to the buildup of a type of sugar called glycogen. The result is weakening of the muscles and enlargement of the heart, which can prevent development and ultimately lead to death.

In cases of Pompe that arise after birth, doctors can treat patients by providing the enzymes. That won’t repair any damage that’s already occurred, but it may prevent things from getting worse. But when it occurs early, even before a person is born, the disease tears muscle fibers and thickens the heart before anyone knows there is a problem. In Pompe and other lysosomal storage diseases, early diagnosis and treatment are crucial.

With that in mind, doctors decided to try enzyme replacement therapy while the fetus is still in the womb, in an attempt to prevent the disease from doing any harm. When Ayla’s mother was 24 weeks pregnant, they received their first dose of the enzyme, which was delivered directly to Ayla through the umbilical cord. Ayla and her mother received six doses in total, each two weeks apart.

By all accounts, the treatment appears to have worked. Ayla was born without the characteristic heart problems associated with other Pompe babies, and she has not had any delays in motor development that could be attributed to muscle damage.

Meanwhile, Ayla and her mother weren’t the only participants in the trial. When the article was published, two other fetuses had been treated with this method and doctors reported that another of the babies was born on October 27 after prenatal treatment for Hunter syndrome. Doctors are monitoring her condition, according to The New York Times.

It is true that the sample size is small and it will take years to see how the treatment works in the long term. But if it works, and it seems to work so far, it could be a breakthrough for a collection of debilitating or fatal disorders.

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