TKT024 OPEN-LABEL EXTENSION

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。粘多糖病II型(MPS II)或Hunter综合征是一种X连锁隐性疾病，由溶酶体酶艾杜酸-2-硫酸酯酶缺乏引起，导致粘多糖的细胞储存，称为糖胺多聚糖(GAG)。在最严重的疾病形式中，死亡发生在20岁之前，死于口臭的堆积。虽然异基因骨髓移植治疗亨特综合征已经尝试过，但结果并不令人满意。因此，目前还没有针对这种疾病的治疗方法。有限的临床试验数据表明，用静脉注射重组形式的艾杜酸-2-硫酸酯酶替代体内缺陷的艾杜酸-2-硫酸酯酶是一种安全有效的治疗方法，可以减少与疾病相关的发病率。由TKT公司赞助的该药物的I/II阶段试验已经完成。12名患者参加了这项为期6个月的双盲安慰剂对照研究，没有发生意想不到或显著的不良事件。TKT已经取得进展，通过招募90名患者参加随机12个月的双盲安慰剂对照II/III阶段试验，更好地表征了这种治疗的安全性和有效性。其中10名患者目前在华盛顿大学登记，并在儿科GCRC进行管理。最后一位患者将于2005年2月完成为期一年的试验。在完成当前一年的盲法试验后，患者将被转移到这项为期两年的开放标签试验。然而，只有那些不能被转移到离家更近的地方的患者才会留在华盛顿大学进行试验，估计目前10名患者中有2到3名。

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 as 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 characterized 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. The last patient will complete that one year trial in February, 2005. 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 here at Washington University, estimated to be 2 or 3 of the ten patients at this time.