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In the first-ever case, a baby girl was treated for a rare fatal prenatal disorder!

For the first time, doctors have successfully treated a fetus by injecting an important enzyme into the tiny umbilical cord, stopping a deadly genetic disorder known as "Pompe disease."

Doctors from the United States and Canada reported that in the first medical trial they were able to start treating a baby girl from this rare and often fatal genetic condition for children while they were still fetuses in the womb.

They pointed out that the use of a new treatment technique saved the life of the 16-month-old girl, Ayla Bashir, as she escaped the fate of her two sisters, who died early in their lives due to "Pompe disease", or as it is officially known as glycogen storage disease type II.

Today, Ayla, is an energetic and happy girl who has achieved the stages of her growth, according to her father, Zahid Bashir, and her mother, Sobia Qureshi. The couple previously lost their two daughters, Zara, two and a half, and Sarah, eight months, from the disease, while a third pregnancy was terminated due to a diagnosis of the same disorder.

In a case study published Wednesday in the New England Journal of Medicine, doctors revealed the international cooperation during the "Covid-19" pandemic, which led to the life-saving treatment of Ayla, and this success paves the way for the treatment of other genetic disorders in fetuses by infusing the required enzyme. Through the umbilical vein of the fetus of a pregnant woman.

Due to the recessive gene variant carried by the parents, their children have a 25% chance of inheriting Pompe disease, a fatal disorder that often affects less than 1 in 100,000 live births. Pompey reported mutations in the gene that codes for alpha-glucosidase (GAA), an enzyme the body needs to break down glycogen, or stored sugar, into usable fuel by cells.

In this case, essential enzymes are inserted through a needle inserted through the mother's abdomen and directed into a vein in the umbilical cord. Ayla received six infusions of it every two weeks, which she started at about 24 weeks of pregnancy.

“The innovation here was not in the medicine nor in getting it into the fetal circulation,” said Dr. Pranesh Chakraborty, a metabolic geneticist at Children's Hospital of Eastern Ontario who has taken care of Ayla's family for years. fetus in the womb.

Babies with Pompe disease often soon after birth are treated with alternative enzymes to slow the devastating effects of the condition.

Source: Live Science published on 14-11-2022


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