Researcher's drug for Pompe disease approved in US

Myozym -- a new drug invented by Academia Sinica academic Chen Yuan-tsong (陳垣崇) -- has been approved by the US Food and Drug Administration (FDA) for sale in the US as the first treatment for patients with Pompe disease.

Pompe disease, also known as glycogen storage disease type II, is a rare genetic disorder caused by a deficiency in the enzyme acid alpha-glucosidase (GAA), which is required to break down glycogen.

As glycogen accumulates, superfluous glycogen gradually damages the patients' muscle, liver and heart. In the worst cases, infants with the illness may die from respiratory or cardiac complications before the age of one.

Since 1932, when the disease was first identified by Dutch doctor J.C. Pompe, there has been no effective treatment for the disease. According to the FDA, one infant has the illness in about 40,000 to 300,000 births.

Academia Sinica President Lee Yuan-tseh (李遠哲) said on Tuesday that before Myozym, when mothers were diagnosed as pregnant with babies having Pompe disease, doctors would most likely suggest abortion because the illness is incurable and there were no drugs to relieve symptoms. However, Lee said, from now on abortion will never be the only viable option.

While explaining how Myozym works, Chen said that since the illness is caused by a lack of GAA, the drug is designed to replace the missing enzyme and help break down glycogen. After spending seven years testing on humans, Chen said he was glad to see the drug approved by the European Medicines Agency (EMEA) early last month and then also by the FDA last week.

Chen, a former researcher at Duke University, has studied Pompe disease for 15 years and discovered the Myozym compound in 1995. After Myozym proved effective on birds, testing on humans began in 1999.