RECOMBINANT HUMAN ACID ALPHA-GLUCOSIDASE TRMT IN PTS WITH GLYCOGEN STORAGE DIS

这个子项目是利用由NIH/NCRR资助的中心拨款提供的资源的许多研究子项目之一。子项目和调查员(PI)可能从另一个NIH来源获得了主要资金，因此可能会出现在其他CRISE条目中。列出的机构是针对中心的，而不一定是针对调查员的机构。糖原贮存病II型(GSD-II)是一种罕见的常染色体隐性遗传病，由降解溶酶体糖原所需的酸性α-葡萄糖苷酶(GAA)缺乏引起。GSD-II的其他名称包括Pompe病、酸性麦芽糖酶缺乏症(AMD)和II型糖生成。GAA缺乏症的临床表现从快速致命的婴儿疾病到缓慢进展的迟发性肌病，通常与呼吸功能不全有关。(1)GSD-II目前没有得到批准的有效治疗方法。姑息性和支持性护理是管理的支柱。酶替代疗法可能在减缓或逆转疾病症状或将较严重的表型转变为较轻的表型方面有效。人们希望酶替代疗法能够恢复酶活性，耗尽积累的底物，防止进一步积累。这项研究中符合条件的患者将每隔一周接受一次20毫克/公斤体重的静脉注射，持续52周，然后将参加持续到研究终止或市场批准的维持期。

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. Glycogen Storage Disease type II (GSD-II) 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 GSD-II include Pompe Disease, 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 GSD-II. 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 20mg/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.