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

本子项目是利用由NIH/NCRR资助的中心赠款提供的资源的众多研究子项目之一。子项目和研究者（PI）可能已经从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。列出的机构是中心的，不一定是研究者的机构。自2005年7月方案开始以来，我们已经招募了3名患者。泰-萨克斯病和桑德霍夫病是罕见的，招募是在个案的基础上，因为儿童在全国范围内被诊断出来。对方案的唯一修改是在第1周和第13周将经皮静脉中心导管置入研究的药代动力学部分。这使得在规定的时间点，在24小时内准确地获得血液，而不需要重复的针扎，这些患者往往不能茁壮成长。另外将招募10名患者。

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.