(RHGAA) TRMT IN PTS 6 MONTH W/INFANTILE-ONSET POMPE DISEASE

该子项目是利用NIH/NCRR资助的中心赠款提供的资源的许多研究子项目之一。子项目和研究者（PI）可能从另一个NIH来源获得主要资金，因此可以在其他CRISP条目中表示。所列机构为中心，不一定是研究者所在机构。庞贝氏症是一种罕见的常染色体隐性遗传病，由酸性α-葡萄糖苷酶（GAA）缺乏引起，而酸性α-葡萄糖苷酶是溶酶体糖原降解所必需的。庞贝氏症的其他名称包括糖原累积病II型（GSD-II），酸性麦芽糖酶缺乏症（AMD）和糖原生成II型。GAA缺乏症的临床表现从迅速致命的婴儿疾病到经常与呼吸功能不全相关的缓慢进行性迟发性肌病不等。(1)目前还没有批准的有效治疗庞贝氏症的方法。姑息治疗和支持性护理是治疗的主要手段。酶替代疗法可以有效地减缓或逆转疾病的症状或将更严重的表型转化为更温和的表型。 人们希望酶替代疗法能恢复酶活性，消耗积累的底物，并防止进一步积累。本研究中的合格患者将每隔一周接受20至40 mg/kg体重的rhGAA静脉（IV）输注，持续52周，然后将参与维持期，持续至研究终止或上市批准。

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 disease caused by the deficiency of acid a-glucosidase (GAA), which is needed for the degradation of lysosomal glycogen. Other names for Pompe Disease include Glycogen Storage Disease type II (GSD-II) acid maltase deficiency (AMD) and glycogenesis type II. Clinical presentation of GAA deficiency ranges from a rapidly fatal infantile disease to a slowly progressive late-onset myopathy frequently associated with respiratory insufficiency. (1) There is currently no approved, effective treatment for Pompe Disease. Palliative and supportive care provides the mainstay of management. Enzyme replacement therapy may be effective in slowing or reversing symptoms of the disease or converting a more severe phenotype into a milder phenotype. It is hoped that enzyme replacement therapy will restore enzymatic activity, deplete accumulated substrate, and prevent further accumulation. Eligible patients in this study will receive an intravenous (IV) infusion of rhGAA of 20 to 40 mg/kg of body weight every other week, for 52 weeks, and then will participate in a maintenance phase that lasts until the study is terminated or until market approval.