TKT024 OPEN-LABEL EXTENSION

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。 II型粘多糖沉积症（MPS II）或亨特氏综合征是一种X连锁隐性疾病，由溶酶体酶艾杜糖醛酸-2-硫酸酯酶缺乏引起，导致称为糖胺聚糖（GAG）的粘多糖的细胞储存。 在最严重的疾病形式中，死亡发生在20岁之前，原因是GAG的积累。 虽然异基因骨髓移植治疗亨特氏综合征已经尝试过，但结果并不令人满意。 因此，目前没有治疗这种疾病的方法。 有限的临床试验数据已经证明，用IV给予的重组形式的酶替代体内缺乏的艾杜糖醛酸-2-硫酸酯酶是降低与疾病相关的发病率的安全有效的疗法。 由TKT公司赞助的药物I/II期试验已经完成。12名患者参加了这项为期6个月的双盲安慰剂对照研究，没有发生意外或重大不良事件。 TKT已通过在一项随机、12个月、双盲、安慰剂对照的II/III期研究中招募90例患者，更好地表征了这种治疗的安全性和有效性。 其中10例患者目前在Wash U入组，并在儿科GCRC进行管理。 在完成当前的1年设盲试验后，患者将转移至该2年开放标签试验。 但是，只有那些不能转移到离家较近的当地地点的患者才会留在华盛顿大学的试验中。

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. Mucopolysaccharidosis Type II(MPS II) or Hunter syndrome is a X-linked recessive disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase that results in the cellular storage of the mucopolysaccharide known as glycosaminoglycans (GAGs). In the most severe form of the disease death occurs before 20 years of age from accumulation of GAGs. Although allogenic bone marrow transplantation for Hunter syndrome has been tried, the results have been unsatisfactory. Therefore, no current treatment for this disease is available. Limited clinical trail data has demonstrated that replacement of the deficient iduronate-2-sulfatase enzyme in the body with an IV administered recombinant form of the enzyme is a safe and effective therapy to reduce the morbidity associated with the disease. A phase I/II trial of the drug sponsored by TKT Corporation has been completed. 12 patients were enrolled in this 6 month double blind placebo controlled study with no unanticipated or significant adverse events. TKT has moved forward to better characterize the safety and efficacy of this treatment by enrolling 90 patients in a randomized 12 month double blind placebo controlled phase II/III study. 10 of those patients are currently enrolled at Wash U and are managed in the Pediatric GCRC. After completing the current one year blinded trial, patients will be moved to this 2 year open label trial. However, only those patients who cannot be moved to a local site closer to home will remain in the trial at Washington University.