Extension Study of Patients With Infantile-Onset Pompe Disease Who Were Previously Enrolled in Protocol AGLU01602

Extension Study of Patients With Infantile-Onset Pompe Disease Who Were Previously Enrolled in Protocol AGLU01602

A Long-Term Continuation Study of Patients With Infantile-Onset Pompe Disease Who Were Previously Enrolled in Protocol AGLU01602

Pompe disease (also known as glycogen storage disease type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA). Normally, GAA is used by the body's cells to break down glycogen (a stored form of sugar) within specialized structures called lysosomes. In patients with Pompe disease, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. The overall objective of this study is to evaluate the long-term safety and efficacy of Myozyme treatment in patients with infantile-onset Pompe disease.

Glycogen Storage Disease Type II, GSD-II, Pompe Disease, Pompe Disease (Late-onset), Acid Maltase Deficiency Disease, Glycogenosis 2, Glycogen Storage Disease Type II (GSD-II)

Inclusion Criteria: The patient's legal guardian(s) must provide written informed consent prior to any study-related procedures being performed The patient and his/her legal guardian(s) must have the ability to comply with the clinical protocol The patient must have completed Protocol AGLU01602. Exclusion Criteria: Patient has experienced any unmanageable adverse event (AE) in Protocol AGLU01602 due to Myozyme that would preclude continuing treatment with Myozyme

Kishnani PS, Goldenberg PC, DeArmey SL, Heller J, Benjamin D, Young S, Bali D, Smith SA, Li JS, Mandel H, Koeberl D, Rosenberg A, Chen YT. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab. 2010 Jan;99(1):26-33. doi: 10.1016/j.ymgme.2009.08.003.