文摘
摘要目的:描述舞蹈病严重程度随着时间的推移,在个人与亨廷顿病(HD)分层总功能能力(交通)。
背景:在高清舞蹈病,最常见的运动症状,消极地影响生活质量和交通。解决舞蹈病是至关重要的减少运动症状在高清的负担。舞蹈病报道增加最初,高原,随着时间和潜在的减少;然而,纵向数据评估舞蹈病严重性疾病阶段是有限的。
设计/方法:全球成人参与者来自Enroll-HD,纵向,观察注册为个人或高清的风险(数据削减2013 - 2020年10月31日)。清单由基线人口分层交通分数代表高清阶段(交通7 - 13 /阶段1 - 2(早期),3 - 6 /第三阶段(中间),0 - 2 /阶段4 - 5(已故))。舞蹈病严重性评估了总最大舞蹈病(TMC)评分基线和年度互访。≥4年随访患者选择估计舞蹈病进展。
结果:manifest人口按高清分组阶段:早,n = 7441;中间,n = 2330;晚了,n = 1120。基线TMC分数(平均(SD))增加高清阶段进展(早,8.0 (4.7);中间,10.4 (5.8);晚,10.6 [6.9])。为参与者≥4年随访(n = 1271), TMC分数随时间增加早期高清(n = 963;年1 - 2,8.5 (5.0);年2 - 3,9.1 (5.3);年3 - 4,9.5[5.6]),但趋于稳定在高水平在中等(n = 222; 10.6 [5.3]; 10.6 [6.0]; 10.1 [5.7], respectively) and late-stage HD (n=86; 10.4 [6.6]; 9.8 [6.9]; 9.7 [6.2]).
结论:在早期高清舞蹈病严重性增加,稳定在中产阶级和后期高清。舞蹈病严重性并未减少纵向在任何阶段;然而,有限的样本容量应该考虑后续段。这些结果支持需要增加对潜在的持久性在后期高清舞蹈病。
披露:Furr-Stimming博士已经收到个人薪酬在500 - 4999美元的范围为梯瓦制药担任顾问。Furr-Stimming博士已经收到个人薪酬在500 - 4999美元的范围作为顾问迈克尔·j·福克斯基金会。Furr-Stimming博士已经收到个人薪酬在500 - 4999美元的范围为在科学咨询服务或数据安全监测委员会梯瓦制药。Furr-Stimming博士已经收到了研究机构的支持治疗触手可及。Furr-Stimming博士的机构收到亨廷顿氏舞蹈症的研究支持美国的社会。Furr-Stimming博士的机构已收到罗氏/基因的研究支持。Furr-Stimming博士的机构已经接到Uniqure研究支持。Furr-Stimming博士的机构已经接到CHDI研究支持。Furr-Stimming博士的机构已收到从亨廷顿研究小组/神经内分泌的研究支持。Furr-Stimming博士的机构已经接到NIH /爱荷华大学的研究支持。 The institution of Dr. Furr-Stimming has received research support from Sage Therapeutics. Dr. Furr-Stimming has received publishing royalties from a publication relating to health care. Dr. Sung has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Teva Neuroscience. Dr. Sung has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Genentech. Dr. Reshef has received personal compensation for serving as an employee of Teva. Ms. Willock has received personal compensation for serving as an employee of HCD Economics. Rinat Ribalov has received personal compensation for serving as an employee of TEVA. Miss Brighton has nothing to disclose. Dr. Leo has received personal compensation for serving as an employee of Teva Pharmaceutical Industries.
