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

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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.