CREST-X

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 亨廷顿病(HD)是一种常染色体显性遗传性神经退行性疾病，以进行性运动功能障碍、情绪障碍、痴呆和体重减轻为特征。HD在世界范围内发生在所有种族和民族[1]。它的患病率为每10万人中有5-10例，并且有高达1-3%的新突变率[2，3]。在美国，大约有3万人受到影响，而另有15万美国人有患上这种疾病的遗传风险。平均发病年龄约为37岁，但范围是从婴儿期到80年代的S。越来越多的理由相信，在症状显现之前，大脑会发生多年的病理变化。受影响的人会因早期功能衰退而迅速致残，需要再照顾和监督15-25年，然后才会屈服于严重的身体和精神退化的影响。目前还没有被证明可以延缓发病或延缓进展的治疗方法，目前的医疗保健侧重于症状管理和优化功能[4-6]。这项临床试验的主要目的是扩大剂量发现研究的结果[(CREST-UP1，PHRC议定书#2004-p-000925)]，以评估每天30克肌酸对HD患者的长期安全性、耐受性和临床影响。作为后续试验的基础，专门针对肌酸延缓或阻止HD进展的能力进行试验。

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. Huntington's disease (HD) is an autosomal dominant inherited neurodegenerative disorder that is characterized by progressive motor dysfunction, emotional disturbances, dementia, and weight loss. HD occurs worldwide in all races and ethnic groups [1]. Its prevalence is 5-10 cases per 100,000, and there is a new mutation rate as high as 1-3% [2, 3]. There are about 30,000 affected individuals in the United States while another 150,000 Americans have a genetic risk for developing the disease. The average age of onset is about 37 years of age, however the range is from infancy into the 80's. There is increasing reason to believe that pathologic alterations occur in the brain for years before symptoms manifest. Affected individuals are rapidly disabled by early functional decline and require care and supervision for another 15-25 years before succumbing to the effects of severe physical and mental deterioration. There is no therapy proven to delay onset or slow progression, and current medical care focuses on symptom management and optimizing function [4-6]. The primary objective of this clinical trial is to extend findings from the dose-finding study [(CREST-UP1, PHRC Protocol#2004-p-000925)] to evaluate the long-term safety, tolerability and clinical impact of 30 grams per day of creatine in subjects with HD. To serve as a basis for subsequent trials designed to specifically address creatine's ability to slow or halt the progression of HD.