PILOT HUNTINGTON AT RISK OBSERVATIONAL STUDY (PHAROS)

点击翻译按钮获取中文摘要

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. The purpose of this study is to characterize, in a rigorous fashion, the critical period marking the transition from health to illness (phenoconversion) in individuals who carry the Huntington's Disease (HD) gene, and to determine a methodology for the rational design of clinical trials of experimental therapeutic agents aimed at postponing clinical onset in presymptomatic gene carriers. The prospective determination of the phenoconversion rate is necessary for sample size estimation for such trials. In addition, a careful consideration of feasibility and ethical issue (such as informed consent and confidentiality) in the setting of the pilot observational study is essential before testing any therapeutic intervention in this population.