Stimming Erin Furr, Claassen Daniel O, Sen Ginny P, Klepitskaya Olga, Serbin Michael, Kim Hyunwoo, Hinton Sean C, Haubenberger Dietrich
The University of Texas Health Science Center at Houston, Houston, TX, USA.
Vanderbilt University Medical Center, Nashville, TN, USA.
Neurol Ther. 2025 Jun;14(3):743-756. doi: 10.1007/s40120-024-00703-9. Epub 2025 Jan 15.
Chorea is the primary manifestation of Huntington's disease. Different clinicians pursue varied approaches to chorea management, and real-world evidence describing them is needed. The objective of this study was to assess the presence and severity of chorea, chorea pharmacotherapy, and treatment practice, and patterns in a large natural-history cohort with Huntington's disease.
The Enroll-HD research platform Periodic Dataset 5.0 was used to select subjects. Outcomes included demographics, disease-related baseline characteristics (Primary Analysis Set), and treatment patterns (Treatment Analysis Set).
A total of 2590 manifest participants comprised the Primary Analysis Set with 1040 in the Treatment Analysis Set; 96.8% of participants had chorea. Mean Unified Huntington's Disease Rating Scale scores for Total Maximal Chorea, Total Motor Score, and Total Functional Capacity were 9.6, 39.5, and 7.8, respectively. During the observation period from June 2012 to October 2020, 906 (36.1%) participants received treatment for chorea. Among these, the most common first-line therapies were monotherapy VMAT2 inhibitors (49.9%) and antipsychotics (27.7%), while 7.8% of participants discontinued first-line therapy. Of those receiving VMAT2 inhibitors or antipsychotics as first line, 92% and 84%, respectively, remained on VMAT2 inhibitors or antipsychotics alone or in combination for the duration of the study. The most common second-line treatment was combination therapy.
Only 36.1% of participants with chorea were taking a medication indicated for chorea, and, while 49.9% of treated participants received VMAT2 inhibitors first-line, approximately half were prescribed off-label alternatives. It is unclear why patients with indications for treatment were untreated or why off-label alternatives were prescribed. Future research should elaborate on these observations.
舞蹈症是亨廷顿病的主要表现。不同的临床医生采用不同的方法来管理舞蹈症，因此需要描述这些方法的真实世界证据。本研究的目的是评估舞蹈症的存在和严重程度、舞蹈症药物治疗以及治疗实践，以及在一个大型亨廷顿病自然史队列中的模式。
使用Enroll-HD研究平台定期数据集5.0来选择受试者。结果包括人口统计学、疾病相关基线特征（主要分析集）和治疗模式（治疗分析集）。
共有2590名有明显症状的参与者组成了主要分析集，其中1040名在治疗分析集中；96.8%的参与者有舞蹈症。统一亨廷顿病评定量表总最大舞蹈症、总运动评分和总功能能力的平均得分分别为9.6、39.5和7.8。在2012年6月至2020年10月的观察期内，906名（36.1%）参与者接受了舞蹈症治疗。其中，最常见的一线治疗是单药VMAT2抑制剂（49.9%）和抗精神病药物（27.7%），而7.8%的参与者停止了一线治疗。在那些一线接受VMAT2抑制剂或抗精神病药物治疗的人中，分别有92%和84%在研究期间一直单独或联合使用VMAT2抑制剂或抗精神病药物。最常见的二线治疗是联合治疗。
只有36.1%的舞蹈症参与者正在服用治疗舞蹈症的药物，虽然49.9%接受治疗的参与者一线接受了VMAT2抑制剂治疗，但约一半的人被开了非标签替代药物。目前尚不清楚有治疗指征的患者为何未接受治疗，或者为何会开出非标签替代药物。未来的研究应详细阐述这些观察结果。
