Longitudinal Treatment Patterns of Chorea in North American Patients with Huntington's Disease: Data from Enroll-HD.

IF 3.9 3区医学 Q1 CLINICAL NEUROLOGY Neurology and Therapy Pub Date : 2025-01-15 DOI:10.1007/s40120-024-00703-9

Erin Furr Stimming, Daniel O Claassen, Ginny P Sen, Olga Klepitskaya, Michael Serbin, Hyunwoo Kim, Sean C Hinton, Dietrich Haubenberger

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Abstract

Introduction: 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.

Methods: 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).

Results: 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.

Conclusions: 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.

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北美亨廷顿舞蹈病患者舞蹈病的纵向治疗模式：来自注册hd的数据

舞蹈病是亨廷顿舞蹈病的主要表现。不同的临床医生追求不同的舞蹈病管理方法，需要真实世界的证据来描述它们。本研究的目的是评估舞蹈病的存在和严重程度，舞蹈病药物治疗和治疗实践，以及亨廷顿病的大型自然病史队列的模式。方法：采用Enroll-HD研究平台Periodic Dataset 5.0筛选研究对象。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）。结果：共有2590名表列参与者组成主分析集，1040名表列参与者组成治疗分析集；96.8%的参与者患有舞蹈病。统一亨廷顿氏病评定量表的总最大舞蹈量、总运动评分和总功能容量的平均得分分别为9.6、39.5和7.8。在2012年6月至2020年10月的观察期间，906名（36.1%）参与者接受了舞蹈病治疗。其中，最常见的一线治疗是单一治疗VMAT2抑制剂（49.9%）和抗精神病药物（27.7%），而7.8%的参与者停止一线治疗。在接受VMAT2抑制剂或抗精神病药物作为一线治疗的患者中，分别有92%和84%的患者在研究期间继续单独或联合使用VMAT2抑制剂或抗精神病药物。最常见的二线治疗是联合治疗。结论：只有36.1%的舞蹈病患者服用了针对舞蹈病的药物，而49.9%的患者接受了一线VMAT2抑制剂治疗，大约一半的患者服用了说明书外的替代药物。目前尚不清楚为什么有治疗适应症的患者不接受治疗，或者为什么开出说明书外的替代药物。未来的研究应该详细阐述这些观察结果。

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来源期刊

Neurology and Therapy CLINICAL NEUROLOGY-

CiteScore

5.40

自引率

8.10%

发文量

103

审稿时长

6 weeks

期刊介绍： Aims and Scope Neurology and Therapy aims to provide reliable and inclusive, rapid publication for all therapy related research for neurological indications, supporting the timely dissemination of research with a global reach, to help advance scientific discovery and support clinical practice. Neurology and Therapy is an international, open access, peer reviewed, rapid publication journal dedicated to the publication of high-quality clinical (all phases), observational, real-world and health outcomes research around the discovery, development, and use of neurological and psychiatric therapies, (also covering surgery and devices). Studies relating to diagnosis, pharmacoeconomics, public health, quality of life, and patient care, management, and education are also welcomed. The journal is of interest to a broad audience of healthcare professionals and publishes original research, reviews, case reports, trial designs, communications and letters. The journal is read by a global audience and receives submissions from all over the world. Neurology and Therapy will consider all scientifically sound research be it positive, confirmatory or negative data. Submissions are welcomed whether they relate to an international and/or a country-specific audience, something that is crucially important when researchers are trying to target more specific patient populations. This inclusive approach allows the journal to assist in the dissemination of all scientifically and ethically sound research. Rapid Publication The journal’s rapid publication timelines aim for a peer review decision within 2 weeks of submission. If an article is accepted, it will be published online 3-4 weeks from acceptance. These rapid timelines are achieved through the combination of a dedicated in-house editorial team, who closely manage article workflow, and an extensive Editorial and Advisory Board who assist with rapid peer review. This allows the journal to support the rapid dissemination of research, whilst still providing robust peer review. Combined with the journal’s open access model, this allows for the rapid and efficient communication of the latest research and reviews to support scientific discovery and clinical practice. Open Access All articles published by Neurology and Therapy are open access. Personal Service The journal’s dedicated in-house editorial team offer a personal “concierge service” meaning that authors will always have a personal point of contact able to update them on the status of their manuscript. The editorial team check all manuscripts to ensure that articles conform to the most recent COPE and ICMJE publishing guidelines. This supports the publication of ethically sound and transparent research. We also encourage pre-submission enquiries and are always happy to provide a confidential assessment of manuscripts. 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Peer Review Process Upon submission, manuscripts are assessed by the editorial team to ensure they fit within the aims and scope of the journal and are also checked for plagiarism. All suitable submissions are then subject to a comprehensive single-blind peer review. Reviewers are selected based on their relevant expertise and publication history in the subject area. The journal has an extensive pool of editorial and advisory board members who have been selected to assist with peer review based on the afore-mentioned criteria. At least two extensive reviews are required to make the editorial decision, with the exception of some article types such as Commentaries, Editorials and Letters which are generally reviewed by one member of the Editorial Board. Where reviews conflict, an Editorial Board Member will be contacted for further advice and a presiding decision. Manuscripts are then either accepted, rejected or authors are required to make major or minor revisions (both reviewer comments and editorial comments may need to be addressed. Once a revised manuscript is re-submitted, it is assessed along with the responses to reviewer comments and if it has been adequately revised, it will be accepted for publication. Accepted manuscripts are then copyedited and typeset by the production team before online publication. Appeals against decisions following peer review are considered on a case-by-case basis and should be sent to the journal editor, and authors are welcome to make rebuttals against individual reviewer comments, if appropriate. Preprints We encourage posting of preprints of primary research manuscripts on preprint servers, authors'' or institutional websites, and open communications between researchers whether on community preprint servers or preprint commenting platforms. 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