RHGAA TREATMENT IN PATIENTS OVER 6 AND LESS THAN 36 MONTHS OLD

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This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The purpose of this study is to learn about the safety and effectiveness of a new drug, called Myozyme, used to treat infantile-onset Pompe disease. In infantile Pompe Disease, too much glycogen builds up and is stored in certain body tissues, especially heart, skeletal muscle, and liver tissues. This prevents the tissues from performing their normal functions. This causes the heart to enlarge (cardiomegaly) and its walls to thicken (hypertrophic cardiomyopathy), which causes less pumping of blood (heart failure). Every 2 weeks, 16 patients worldwide will be given an intravenous infusion (IV) of Myozyme, the enzyme that is missing in the bodies of persons with Pompe disease. The children will be followed closely to see how the disease and the study medicine affects the body, health, and the child's ability to grow and develop motor skills.