A child was treated in utero for a genetic condition called Pompe disease. This genetic disease causes organs to become damaged prior to birth. The cause of this genetic disorder is due to reduced or no production of the enzyme acid alpha-glucosidase(GAA). GAA turns glycogen into glucose and without it glycogen accumulates causing damage to muscle tissue. People with Pompe disease normally die before the age of 2 years old. Ayla was treated for this disease while still in the womb. They treated for this by infusing GAA into the umbilical vein once every two weeks for a total of 6 infusions. After she was born she started receiving these infusions and will need to keep receiving them for the rest of her life. It was shown that this treatment was effective, as Ayla is now 2 years old and is meeting normal milestones. She has a normal size heart and is able to walk.
This research is very important because it paves the way for treating certain genetic disorders before a person is even born. This can cause their condition to be much more controlled when they are born and much more manageable after they are out of the womb.
Interesting thing to note, I searched this disease on the OMIM.org website and found out that the Pompe disease, also known as glycogen storage disease II (GSD2) results from a homozygous or compound heterozygous mutation in the GAA gene and that it is an autosomal recessive disorder.
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