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

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 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，该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。这会阻止组织履行其正常功能。这会导致心脏增大(心脏增大)和壁厚(肥厚型心肌病)，从而导致血液泵出减少(心力衰竭)。每隔两周，世界各地的16名患者将接受Myozyme的静脉输注(IV)，Myozyme是庞培病患者体内缺失的一种酶。将密切跟踪儿童，看看疾病和学习药物如何影响身体、健康以及儿童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.