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

具有糖原存储 DIS 的 PTS 中的重组人类酸性α-葡萄糖苷酶 TRMT

• 批准号: 7605446
• 负责人: BARRY J BYRNE
• 金额: $ 0.71万
• 依托单位: UNIVERSITY OF FLORIDA
• 依托单位国家: 美国
• 财政年份: 2006
• 资助国家: 美国
• 起止时间: 2006-12-23 至 2007-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7605446
• 关键词: Acids; Alpha-glucosidase; Body Weight; Clinical; Computer Retrieval of Information on Scientific Projects Database; Disease; Funding; Glycogen; Glycogen storage disease type II; Grant; Human; Institution; Maintenance; Marketing; Myopathy; Names; Patients; Phase; Phenotype; Range; Recombinants; Research; Research Personnel; Resources; Respiratory Insufficiency; Source; Supportive care; Symptoms; United States National Institutes of Health; Week; enzyme replacement therapy; glucosidase; glycogenesis; infancy; intravenous administration; prevent

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 ?-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.

该副本是利用众多研究子项目之一 由NIH/NCRR资助的中心赠款提供的资源。子弹和 调查员（PI）可能已经从其他NIH来源获得了主要资金， 因此可以在其他清晰的条目中代表。列出的机构是 对于中心，这不一定是调查员的机构。 糖原储存疾病II型（GSD-II）是由酸缺乏引起的一种罕见的常染色体隐性疾病？ - 葡萄糖苷酶（GAA），这是溶酶体糖原降解所需的。 GSD-II的其他名称包括蓬松疾病，酸性麦芽糖酶缺乏症（AMD）和II型糖生成。 GAA缺乏症的临床表现范围从快速致命的婴儿疾病到经常与呼吸不足有关的缓慢进行性肌病。 （1）当前没有批准的GSD-II有效治疗。姑息治疗提供了管理的支柱。酶替代疗法可能有效减慢或逆转疾病的症状或将更严重的表型转化为温和表型。 希望酶替代疗法能够恢复酶活性，耗尽累积的底物并防止进一步积累。这项研究中有资格的患者将每隔一周（持续52周）静脉内（IV）注入20mg/kg体重的RHGAA，然后参加维护阶段，该阶段持续到终止研究或终止研究。