AGLU03206 OPEN LABEL EXTENSION OF AGLU02704

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。 Pompe病是一种罕见的常染色体隐性代谢性肌肉疾病，由酸性Q葡萄糖苷酶-GAA缺乏引起，GAA是一种降解溶酶体糖原的酶。Pompe病的特征是细胞器结合、溶酶体和许多身体组织中糖原的溶酶体外积聚，最终导致多系统病理。疾病的范围很广，从快速进展型婴儿发病到缓慢进展型晚发型。Pompe病的所有表现都有一个共同的潜在病理：即GAA缺乏并有糖原积聚。迟发性庞培病的进展速度慢于婴儿起病的形式。进行性骨盆和肩带近端肌肉肌病的患者，以及呼吸受累的进展；比婴儿形式更难预测，一些患者骨骼肌和呼吸肌功能迅速恶化，导致失去行走能力和呼吸衰竭，另一些患者进展较慢，另一些患者在骨骼肌/呼吸肌受累的进展中出现分离。这些患者发生轻微的心肌病或无心肌病。大多数患者会被轮椅束缚，需要呼吸机支持，最终死于呼吸衰竭。 这是一项关于Myozyme治疗晚发性庞贝病患者的安全性和有效性的多中心、多国、开放标签的扩展研究。符合条件的患者将每隔一周接受一次20毫克/公斤的Myozyme静脉输注--至少持续52周。在整个研究治疗期间，将按计划进行安全性和有效性评估。不良事件--不良反应、伴随的药物/疗法和呼吸机的使用将在整个研究过程中受到监测。

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. Pompe disease is a rare autosomal recessive metabolic muscle disease caused by the deficiency of acid Q glucosidase-GAA, an enzyme that degrades lysosomal glycogen. Pompe disease is characterized by organelle bound, lysosomal, and extra-lysosomal accumulation of glycogen in many body tissues, ultimately leading to multisystemic pathology. There is a broad spectrum of disease ranging from a rapidly progressive form- infantile-onset, to a slow, progressive form-late-onset. All presentations of Pompe disease share a common underlying pathology; i.e., deficiency of GAA with accumulation of glycogen. The late-onset form of Pompe disease progresses less rapidly than the infantile-onset form. Patients present with progressive myopathy of the proximal muscles in the pelvic and shoulder girdles, and a progression of respiratory involvement; is less predictable than the infantile form, with some patients experiencing a rapid deterioration in skeletal and respiratory muscle function leading to loss of ambulation and respiratory failure, others progressing less rapidly, and others with dissociation in the progression of skeletal/respiratory muscle involvement. These patients develop minimal or no cardiomyopathy. Most patients become wheelchair-bound, require ventilator support and ultimately succumb to respiratory failure. This is a multicenter, multinational, open-label extension study of the safety and efficacy of Myozyme treatment in patients with late-onset Pompe disease. Eligible patients will receive an intravenous-IV infusion of 20 mg/kg of Myozyme every other week-qow for a minimum of 52 weeks. Safety and efficacy assessments will be performed at scheduled visits throughout the study treatment period. Adverse events-AE, concomitant medications/therapies and ventilator use will be monitored throughout the study.