CREST-X

该子项目是利用 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，不一定是研究者的机构。 亨廷顿病（HD）是一种常染色体显性遗传的神经退行性疾病，其特征在于进行性运动功能障碍、情绪障碍、痴呆和体重减轻。HD在世界范围内发生于所有种族和民族[1]。其患病率为每10万人5-10例，新突变率高达1-3% [2，3]。美国大约有3万人受影响，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，但范围从婴儿到80多岁。有越来越多的理由相信，在症状出现之前，大脑中的病理变化会发生多年。受影响的个人由于早期功能下降而迅速残疾，在遭受严重的身体和精神恶化的影响之前，需要另外15-25年的护理和监督。目前还没有被证明可以延迟发作或减缓进展的治疗方法，目前的医疗护理重点是症状管理和优化功能[4-6]。 本临床试验的主要目的是扩展剂量探索研究[（CREST-UP 1，PHRC方案#2004-p-000925）]的结果，以评价HD受试者每天服用30 g肌酸的长期安全性、耐受性和临床影响。作为后续试验的基础，旨在专门解决肌酸减缓或阻止HD进展的能力。

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.