PHARMACOKINETICS, SAFETY, AND TOLERABILITY OF ZAVESCA (MIGLUSTAT) IN PATIENTS

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的研究机构。 自2005年7月方案开始以来，我们已入组3例患者。 泰-萨二氏病和桑德霍夫病很罕见，招募工作是在个案基础上进行的，因为全国各地都有儿童被诊断出来。 对方案进行的唯一修改是在第1周和第13周纳入研究药代动力学部分的经皮静脉中心静脉导管置入。 这使得血液能够在24小时内的规定时间点准确获得，而不会重复针刺这些通常无法茁壮成长的患者。 将招募额外患者，共计10例。

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. We have enrolled 3 patients since the protocol started in July, 2005. Tay-Sachs and Sandhoff diseases are rare and recruitment has been on a case by case basis as children are diagnosed across the country. The only modification made to the protocol was to include percutaneous intravenous central catheter placement for the pharmacokinetic portion of the study at weeks 1 and 13. This enabled blood to be obtained accurately at defined timepoints over 24 hours without repeated needle sticks for these patients who are often failing to thrive. Additional patients will be recruited for a total of 10.