MPS II PATIENTS RECEIVING ENZYME REPLACEMENT THERAPY

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。亨特综合征(MPS II)是一种罕见的遗传性疾病，由艾杜酸-2-硫酸酯酶(I2S)缺乏引起，I2S是一种分解糖胺聚糖(GAG)所需的酶。结果，GAG在受影响组织的溶酶体中积累。随着时间的推移，体内的细胞会因过载而受到损伤，这会导致心脏瓣膜、口咽、肺、肝、脾、骨骼、关节和神经系统的异常。亨特综合征中逐渐积累的恶作剧通常会导致出生后第一或第二个十年的死亡。目前，对于MPS II尚无有效的治疗方法。这项开放标签扩展研究的主要目的是收集正在接受IDURS酶替代治疗的MPS II患者的长期安全性和临床结果数据。这项研究的第二个目标是收集商业生产的艾杜硫酶的安全数据。

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. Hunter syndrome (MPS II) is a rare inherited genetic disorder caused by a deficiency of iduronate-2-sulfatase (I2S), an enzyme required to catabolize glycosaminoglycans (GAGS). As a result, GAGs accumulate in lysosomes of affected tissue. In time, cells in the body become overloaded with GAGs and are injured, which leads to abnormalities with heart valves, oropharynx, lungs, liver, spleen, bones, joints, and nervous system. The progressive accumulation of GAGs in Hunter syndrome generally leads to death in the first or second decade of life. Presently, there is no effective therapy for MPS II. The primary objective of this open-label extension study is to collect long-term safety and clinical outcome data in patients with MPS II who are receiving Idursulfase enzyme replacement therapy. The secondary objective of the study is to collect safety data on commercially manufactured Idursulfase.