Nov 26, 2022 15:00:00

Succeeded in starting to treat a fatal genetic disease ``in the mother's womb''

In recent years, due to the development of medical technology, it may be possible to find out that the fetus has a congenital disease when it is still in the womb, but there are cases where waiting for treatment until the birth makes the situation worse. In a new case published in the

New England Journal of Medicine , treatment of fetuses with rare genetic disorders beginning 'in the mother's womb' changed their postnatal condition. It is reported to have been successful in keeping better.

In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease | NEJM
https://doi.org/10.1056/NEJ Moa2200587

In a first, doctors treat fatal genetic disease before birth | AP News
https://apnews.com/article/fetal-therapy-in-first-genetic-disease-treated-before-birth-ff17a85c74136888458442d608cdf635

In a 1st, child treated for rare, often-fatal disorder while still in the womb | Live Science
https://www.livescience.com/pompe-disease-prenatal-treatment

Mr. and Mrs. Sobia Qureshi and Zahid Bashir, who live in Ontario, Canada, have a 25% chance of inheriting a genetic disease called Pompe disease to their children due to the latent gene mutations they have. Pompe disease is a disease in which glycogen accumulates in muscle cells due to a lack of the enzyme necessary to break down glycogen in the cells.

The later the onset of Pompe disease, the less severe it is, but when it develops in infancy, symptoms such as muscle weakness, eating disorders, heart enlargement, and respiratory failure appear, and most die within the first year of life. In recent years, even patients with infantile Pompe disease have been able to save their lives by starting treatment with the necessary enzymes before or immediately after the onset of symptoms. cannot, which can lead to muscle weakness and respiratory problems.

One day in late 2020, a prenatal diagnosis revealed that the baby in Qureshi's womb had Pompe disease. The couple had already lost two children to Pompe disease, and Mr. Qureshi recalls his feelings at the time, ``It was really, really scary.''

Such a couple introduced me to a clinical trial of `` a method for treating a fetus with Pompe disease before birth '' developed by Dr. Tippi McKenzie, a pediatrician at the University of California, San Francisco. Because the couple could not go to the University of California, San Francisco due to the pandemic, the Ottawa Hospital in Canada and the Eastern Ontario Children's Hospital were instructed to treat the fetus.

In the treatment, an enzyme used to treat Pompe disease was injected into a vein in the

umbilical cord that connects Qureshi's mother and fetus. Treatment began around the 24th week of pregnancy, and it seems that a total of 6 enzyme injections were performed every other week until birth.

Qureshi's baby was eventually born without enlarged heart muscle and weakness, common symptoms of Pompe disease. The baby, named Isla, needs to be given weekly enzyme injections that take 5 to 6 hours once after birth, but as of November 2022, 1 year and 4 months after birth, symptoms of Pompe disease can be seen. He said he didn't.

Karen von Kee vong, of the Ottawa hospital who treated and delivered Isla, said, 'There is a glimmer of hope that we can treat Pompe lesions in utero instead of waiting for them to take hold. I have,' he commented.