What is Pompe disease?
Pompe disease, which affects approximately 1 in 40,000 Americans, is a genetic disorder that occurs as a result of certain mutations found in the GAA gene. Pompe disease causes high levels of glycogen, a complex sugar found at the cellular level, to accumulate. Because the body is unable to process the buildup of glycogen in people with Pompe disease, it impairs the functioning of various muscles, tissues, and organs. Pompe disease is a life-threatening condition, and there are different types which present during infancy on into adulthood.
What are the symptoms of Pompe disease?
Infants who have been diagnosed with this disease fail to thrive as a result of symptoms. These symptoms include:
- Enlarged liver and liver problems
- Muscle weakness
- Heart, breathing and pulmonary issues
Infants who experience late onset of Pompe disease tend to have milder symptoms initially, but rarely survive beyond a few years. When adolescents and adults first experience symptoms, they may be milder at first and sometimes, without the experience of any heart problems. But because Pompe disease is progressive, over time patients will experience a host of physical challenges that can lead to death.
What treatment options are available for Pompe disease?
A GAA-enzyme-replacement treatment, called Myozyme® (alglucosidase alfa), was approved by the FDA for Pompe disease treatment. It is administered by infusion every two weeks. While Myozyme is not a cure for the disease, it has been successful in treating some symptoms, especially in infancy, and has significantly decreased mortality rates.