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This Child Was Treated for a Rare Genetic Disease While Still in the womb

Infantile-onset Pompe disease is a rare condition that affects fewer than 1 out of 138,000 babies born globally. It’s caused by genetic changes that either reduce levels of an enzyme called acid alpha-glucosidase, or GAA, or prevent the body from making it at all. Sixteen-month-old Ayla has infantile-onset Pompe disease. If left untreated, most infants die before they turn 2. Treatment typically begins after birth, but that tactic doesn’t prevent the irreversible, and potentially deadly, organ damage that happens in utero.

The little girl received treatment while still in the womb as part of an early-stage clinical trial. Today, the toddler has a normal heart and is meeting developmental milestones, including walking. Her success is a sign that prenatal treatment of the disease can stave off organ damage and improve babies’ lives, researchers report November 9 in the New England Journal of Medicine.

Read the original article in Science News.