Ayla Bashir, a 16-month-old from Canada, was the first-ever child to be treated for a rare genetic disease known as Pompe disease before she was born. Pompe disease is a rare genetic disease where glycogen builds up in the lysosomes of cells. The disease occurs when the person lacks the digestive enzyme called acid alpha-glucosidase (GAA), which is responsible for degrading glycogen in the lysosomes of the cell. There are two types of Pompae disease, one where it develops in infants, and one where it develops later in life. Symptoms of both include progressive muscle weakness and poor muscle tone. Also, the enlargement of the heart, liver, and tongue may occur. This disease was also present in both of Ayla's older sisters but they passed away. While in utero, Ayla received enzymes inserted through a needle into her mother's abdomen that was guided into a vein into her umbilical cord. She received 6 bi-weekly infusions starting just at 24 weeks. Usually, babies with this condition are treated with the enzymes after birth. However in some babies such as Ayla, their immune system blocks the enzymes from working in the long run. Because the enzymes were given to Ayla while in utero, the doctors hope that her immune system will not reject the enzymes. However, the disease is progressive and gets worse over time. Therefore only time will tell whether or not the enzymes will work and the disease will cease to progress.
This new preventative trial of introducing this enzyme is an interesting approach to combat the rejection of the enzyme. Treatments for rare genetic disorders like this are often done to prevent the disease from getting worse after birth, but this in utero treatment may yield better results. This is a very interesting new way to attempt treatment for a disease like pompae.
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