Most readers have probably not heard of Pompe disease, a rare genetic disorder in which prevents the body from producing enough of the enzyme acid alpha-glucosidase (GAA), used by the heart and skeletal muscle cells to convert a form of sugar called glycogen into energy. Without the enzyme action, glycogen builds up in the cells and, ultimately, weakens the heart and muscles leading to respiratory weakness and eventual death by the time an infant is about 9 months old if left untreated.
The disease occurs in an estimated 1 in every 40,000 to 300,000 births. primary Symptoms include “floppy baby appearance,” as well as facial features including macroglossia, wide open mouth wide open eyes, nasal flaring (due to respiratory distress), and poor facial muscle tone. Delayed motor skills and feeding problems are also common as are, recurring chest infections, decreased air entry in the left lower zone (due to cardiomegaly), arrhythmias and evidence of heart failure.
To prevent this, the FDA has just approved expanded use of Lumizyme (alglucosidase alfa), a lysosomal glycogen-specific enzyme believed to work by replacing the deficient GAA, thereby reducing the accumulated glycogen in heart and skeletal muscle cells in all children with infantile-onset Pompe disease, including those under the age of 8. The drug was first approved in 2010 for use in children over 8.
A similar drug known as Myozyme delivered intravenously was first approved by the FDA in 2006 to treat patients ranging from 1 month and up after clinical trials proved it efficiency in prolonging “ventilator-free survival and overall survival.” The problem with Myozyme, however, is that is costs an average of $300,000 a year and must be taken for the patient’s entire lifetime, which has caused a number of health insurers to refuse coverage. Side effects of the drug treatment may include fever, flushing, skin rash, increased heart rate and even shock. However medical experts state that these conditions are “generally manageable.”
