RHGAA TREATMENT IN PATIENTS < 6 MONTHS OLD

本子项目是利用由NIH/NCRR资助的中心赠款提供的资源的众多研究子项目之一。子项目和研究者（PI）可能已经从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。列出的机构是中心的，不一定是研究者的机构。这项研究的目的是了解一种名为Myozyme的新药的安全性和有效性，这种药物用于治疗婴儿起病的庞贝病。在婴儿庞贝病中，过多的糖原积聚并储存在某些身体组织中，特别是心脏、骨骼肌和肝脏组织。这就阻止了组织发挥其正常功能。这会导致心脏增大（心脏肥大）和壁增厚（肥厚性心肌病），从而导致供血减少（心力衰竭）。每两周，全世界将有16名患者接受肌酶静脉输注（IV），这种酶在庞贝病患者体内缺失。孩子们将被密切关注，看看疾病和研究药物如何影响身体，健康，以及孩子的成长和发展运动技能的能力。

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.