OBJECTIVES: Pompe disease is a rare disease that affects between 5,000 and 10,000 people worldwide.  It is an inherited metabolic myopathy caused by deficiency of acid alpha-glucosidase (GAA) enzyme in lysosomal cells.  The purpose of this study was to review and compare recent developments in Pompe disease therapy. METHODS: Using PubMed and other Internet-based search engines, we reviewed Pompe disease epidemiology and recent new drug development, and compared two newly-approved therapies in terms of their indications, efficacy, and safety profiles. RESULTS: The incidence of Pompe disease varies among different populations, ranging from 0.0032% in African Americans to 0.002% for the Chinese. There are two forms of Pompe disease: infantile-onset and late-onset. The survival rate to age one is about 25.7% for those with the infantile-onset disease.  Two new drugs are both enzyme replacement therapies (ERTs), including Myozyme® (alglucosidase alfa, rhGAA) and Lumizyme® (alglucosidase alfa).  They were approved as orphan drugs by the U.S. Food and Drug Administration in 2006 and 2010, respectively. Both are biologics that have been marketed around the world. While Myozyme® is indicated for infantile-onset, Lumizyme® is for children 8 years old or older. Both drugs improve the survival rate, but there remains a need to monitor risk of heart and lung failure among those on treatment. CONCLUSIONS: Although ERT is an approved effective treatment for Pompe disease, gene therapy is under development in order to correct sequence coding gene for the deficient enzyme into cells.