CLINICAL TRIAL: MPS II PATIENTS RECEIVING ENZYME REPLACEMENT THERAPY

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 亨特氏综合征（MPS II）是一种罕见的遗传性疾病，由艾杜糖醛酸-2-硫酸酯酶（I2 S）缺乏引起，艾杜糖醛酸-2-硫酸酯酶是一种分解代谢糖胺聚糖（GAGS）所需的酶。因此，GAG在受影响组织的溶酶体中积累。随着时间的推移，体内的细胞变得与GAG超载并受到损伤，这导致心脏瓣膜，口咽，肺，肝，脾，骨骼，关节和神经系统的异常。亨特氏综合征中GAG的进行性积累通常会导致生命的第一个或第二个十年死亡。目前，没有有效的治疗MPS II。 这项开放标签扩展研究的主要目的是收集接受艾度硫酸酯酶酶替代治疗的MPS II患者的长期安全性和临床结局数据。 本研究的次要目的是收集市售艾度硫酸酯酶的安全性数据。

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.