Treating a Deadly Genetic Disease in the Womb
In November, doctors in the U.S. and Canada reported a medical first. They were able to start treating a patient’s deadly genetic disease in the womb, seemingly helping to prevent the fatal complications that killed her siblings.
Their patient—a young girl named Ayla—was diagnosed with Pompe disease, a rare condition that prevents people from breaking down stored glycogen in the body. Those with early onset Pompe often die or develop severe developmental problems within years, even when the standard treatment, enzyme replacement therapy, is given soon after birth. But researchers at University of California San Francisco have begun a small trial testing whether providing this treatment even earlier, in the womb, might provide better outcomes, with Ayla being their first patient.
So far, the strategy seems to have worked. Ayla has avoided the problems that her siblings had, such as an enlarged heart at birth, and nearly two years later, she is meeting her developmental milestones on time. Ayla will need to keep taking enzyme replacement therapy for the foreseeable future, but the findings of this ongoing research could someday lead to a new standard of care for patients like her.
