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In-Utero Breakthrough


Doctors have successfully prevented the symptoms of a rare genetic childhood disease via treatments delivered while the child was still in the womb, a first-of-its-kind achievement that raises the potential for new in-utero therapies for deadly conditions. Pompe disease arises from a genetic mutation that prevents the body from properly breaking down glycogen, a sugar used for energy (see 101), resulting in weak heart and skeletal muscles. Most infants begin receiving treatments immediately after birth but suffer irreversible and often fatal organ damage during fetal development. The patient, now a toddler named Ayla—who had two siblings die from the disease—began receiving infusions of the needed enzyme at 24 weeks via injections into her mother's umbilical vein. Doctors say Ayla will require regular infusions throughout her life, but otherwise shows no signs of the disease. Doctors say the approach may be used to treat other deadly inherited diseases, including alpha thalassemia, which can cause severe anemia and death in infants.

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