A Child was Treated for a Rare Genetic Disease While in the Womb

Researchers and doctors were able to fully treat a toddler girl from a rare genetic disease before she was even born. Ayla, a sixteen-month-old toddler, had infantile-onset Pompe disease, a genetic disorder that can cause organ damage that starts before birth. Whilst still an infant, many signs and symptoms of the disease can be present, such as progressive muscle weakness, diminished muscle tone, and respiratory deficiency. This can result in the infant not surviving past the age of 2. Treatment for the disease usually begins after birth, but the treatment does not prevent irreversible damage.

The disease affects less than 1 out of 138,000 babies born globally, and it is caused by genetic changes that either reduce or prevent the body from making acid alpha-glucosidase or GAA. This enzyme turns glycogen into glucose, and without the enzyme, glycogen accumulates to dangerous levels that can affect a baby's muscle tissues, such as the heart and muscles. After early studies with mice suggested that treatment for a Pompe-like disease could be controlled before birth, doctors and researchers launched an early-stage clinical trial. The trial team began treating Ayla by infusing GAA through the umbilical vein when her mother was 24 weeks pregnant. She was infused six times before birth, and the medical team has been infusing Ayla weekly after birth, though she will need to continue treatment throughout her life.

In my opinion, I wonder if other genetic conditions or diseases can be treated once detected in the womb. If this clinical trial showed me anything, it is that with new technology and techniques, we are getting closer to being able to treat and prevent many diseases from worsening.