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Cerebellar DBS in SCA1 and SCA3 Study

2026年8月3日 更新者：Gordon H. Baltuch

Deep Brain Stimulation of the Deep Cerebellar Nuclei in Subjects With Spinocerebellar Ataxia: A Safety and Feasibility Study

The purpose of this study is to evaluate the safety and feasibility of deep brain stimulation (DBS) in the deep cerebellar nuclei (DCN) in patients with Spinocerebellar Ataxia (SCA) types 1 and 3.

Primary Objective: The incidence and nature of treatment-related adverse events across the entire study, including serious treatment-related adverse events such as intracerebral hemorrhage, infection, and serious or unanticipated adverse device effects (SADEs and UADEs).

Secondary/Exploratory Objectives:

  • Evaluation of the effect of Dentate Nucleus (DN) - Deep Brain Stimulation (DBS). Ataxia severity will be quantified using the Scale of Assessment and Rating of Ataxia (SARA), Patient-Reported Outcome Measure of Ataxia (PROM-Ataxia), and kinematics.
  • To characterize electrophysiological activity across the cerebellothalamocorticomuscular (CTCM) network at rest and during motor behaviors.
  • To examine how DN-DBS modulates oscillatory activity and coupling across the CTCM circuit in relation to improvements in controlling ataxia.

研究概览

地位

尚未招聘

条件

干预/治疗

详细说明

People with spinocerebellar ataxia (SCA) face progressively disabling symptoms such as poor balance, frequent falls, and a loss of muscle control. Currently, there are no approved treatments for these symptoms.

Developing medications to treat SCA is incredibly difficult because the brain's movement center-the cerebellum-has complex, damaged wiring that varies between patients. However, all signals from this complex brain region flow through a single exit point called the deep cerebellar nuclei (DCN). This makes the DCN (specifically, the dentate nucleus or DN) a perfect target for brain stimulation. Over the past five years, animal studies have shown that using a device to stimulate this area (called deep brain stimulation, or DBS) can significantly improve movement control. Recently, a small study showed promising early results in humans, particularly in two patients with SCA type 3.

To translate these findings into a standard treatment that has the potential to improve patients' lives, the investigators must first determine whether this is feasible and safe. The investigators will also need to see if this treatment works for different types of SCA, since cerebellar damage varies from person to person. Therefore, the aim of this study is to test and safety, feasibility, and early effectiveness of DBS on both sides of the brain in 12 people with SCA types 1 and 3. During the study, the investigators will use temporary external wires and a brain-recording device to listen to the brain's signals. By matching these signals with standard brain wave tests (EEGs), the investigators will hopefully understand exactly how this stimulation fixes the brain's movement network.

研究类型

介入性

注册 (估计的)

12

阶段

  • 不适用

联系人和位置

本节提供了进行研究的人员的详细联系信息，以及有关进行该研究的地点的信息。

学习联系方式

研究联系人备份

学习地点

  • 美国
    • New York
      • New York、New York、美国、10032
        • Columbia University Irving Medical Center
        • 接触：
        • 接触：
        • 首席研究员：
          • Gordon Baltuch, MD
        • 副研究员：
          • Sheng-Han Kuo, MD
    • Ohio
      • Cleveland、Ohio、美国、44195
        • Cleveland Clinic
        • 接触：
        • 首席研究员：
          • Andre Machado, MD
        • 副研究员：
          • Kenneth Baker, PhD

参与标准

研究人员寻找符合特定描述的人，称为资格标准。这些标准的一些例子是一个人的一般健康状况或先前的治疗。

资格标准

适合学习的年龄

  • 成人

接受健康志愿者

不

描述

Inclusion Criteria:

  • Subject is aged >= 18 years and =< 60 years.
  • Subject has moderate ataxia severity, as demonstrated by a Scale for Ataxia Rating and Assessment (SARA) score >= 11.
  • Subject has genetic confirmation of pathological repeat expansions in ATXN1 (for SCA1, repeat size >= 40) and ATXN3 (for SCA3, repeat size >= 56).
  • Subject has been on a stable and optimized standard of care (SoC) regimen for at least 3 months prior to Screening (including physical therapy) and continues to exhibit signs of cerebellar ataxia.
  • Subject has a minimum 6th grade reading level, as determined by the Rapid Estimate of Adult Literacy in Medicine (REALM) scale.
  • Subject is able and willing to give informed consent and attend all study visits.
  • Subject is available for all follow-up visits during the length of the study.

Exclusion Criteria:

  • Subject is unable to provide informed consent.
  • Subject has presence of overt tremor, dystonia, and/or parkinsonism, which are atypical features and could be suggestive of prominent extra-cerebellar circuit involvement that may not respond well to cerebellar DBS.
  • Subject is wheelchair dependent and may be too progressed to complete gait assessments.
  • Subject is unable to stop anticoagulation or platelet anti-aggregation therapy for study procedures.
  • Subject has a Montreal Cognitive Assessment (MoCA) score =< 24.
  • Subject has a diagnosis of epilepsy.
  • Subject has a major active psychiatric illness that may interfere with the study, such as psychiatric disorders or severe personality disorders.
  • Subject has an untreated or inadequately treated major depressive episode.
  • Subject is pregnant, lactating, or planning to become pregnant during the study.
  • For women of childbearing potential, subject is unable or unwilling to use accepted contraception methods.
  • Subject is unable to communicate with investigators or staff.
  • Subject has contraindications to DN DBS, including significant small vessel ischemic disease, vertebrobasilar vascular disease, and/or any other structural abnormalities of the cerebellum, cerebellar peduncles, and brain stem that would preclude safe placement of the DBS leads.
  • Subject has contraindications to magnetic resonance (MR) imaging, e.g., weight incompatible with scanner, implanted metallic devices or electrical devices (pacemaker, defibrillator, spinal cord stimulator), or intolerance to MRI contrast agents.
  • Subject is enrolled in another device, biologic or pharmaceutical study within 30 days of consent in the current study (i.e., patients cannot be enrolled if participation in another study was not completed at least 30 days prior to consent).
  • Subject has evidence of behavior(s) consistent with alcohol or substance abuse/dependence within the preceding 6 months, as outlined by the DSM-V criteria.
  • Subject has a condition that, in the opinion of the investigator, would significantly increase the risk for interference with study compliance, safety, or outcome.
  • Subject is at risk for suicide, defined by a total score >= 3 on the Columbia Suicide Severity Rating Scale (C-SSRS).
  • Patients who are not able to read, speak and/or understand English.

学习计划

本节提供研究计划的详细信息，包括研究的设计方式和研究的衡量标准。

研究是如何设计的？

设计细节

  • 主要用途：治疗
  • 分配：不适用
  • 介入模型：单组作业
  • 屏蔽：无（打开标签）

武器和干预

参与者组/臂
干预/治疗
实验性的：DBS Intervention
Participants will undergo surgical implantation of the DBS leads, followed by a second surgery to implant a pulse generator (IPG) which generates electricity.
设备：UG3NS140720 Deep Brain Stimulation System

The UG3NS140720 Deep Brain Stimulation System is primarily comprised of components from the Medtronic Percept™ system, which is approved in the U.S. by the FDA for unilateral or bilateral stimulation of the ventral intermediate nucleus (VIM) of the thalamus as adjunctive therapy for ET, cerebellar outflow tremor, and MS-related tremor. This system is also approved to be used on patients with neurologic disorders such as Parkinson's disease, dystonia, or epilepsy. The FDA has not approved any DBS system for the stimulation of the Deep Cerebellar Nuclei (DCN) for this patient population.

Deep brain stimulation (DBS) utilizes surgically implanted electrodes and a neurostimulator to deliver electrical energy to specific targeted structures deep within either one or both hemispheres of the brain.

其他名称：
  • DBS System

研究衡量的是什么？

主要结果指标

结果测量
措施说明
大体时间
Incidence of treatment-related adverse events
大体时间：Up to 72 months
To further understand the safety and optimize a novel therapeutic target to achieve ataxia control for individuals with SCA. The adverse events will be evaluated and tallied if they met the criteria as Serious Adverse Events (SAE), Serious Adverse Device Effects (SADE), and Unanticipated (Serious) Adverse Device Effects (UADE).
Up to 72 months

次要结果测量

结果测量
措施说明
大体时间
Mean Scale for Assessing and Rating of Ataxia (SARA) Score
大体时间：Baseline, Month 11
To characterize the effect of DN-DBS on disease-related impairments, the study will measure ataxia severity as assessed by the Scale for Assessing and Rating of Ataxia (SARA). SARA is a clinical scale that includes 8 different domains of neurological exams, including gait, stance, sitting, speech, and hand dexterity. The total amount of points on SARA ranges from 0 (no ataxia) to 40 (most severe ataxia).
Baseline, Month 11
Mean Patient-Reported Outcome Measures - Ataxia (PROM-Ataxia) Scale Score
大体时间：Baseline, Month 11
To characterize the effect of DN DBS on ataxia severity and related cognitive and emotional symptoms in SCA, the study will utilize the Patient-Reported Outcome Measures - Ataxia (PROM-Ataxia) scale. PROM-Ataxia is a 3-domain, 70-item questionnaire which assesses the impact of cerebellar dysfunction on physical abilities, activities of daily living, and cognitive-emotional challenges. The maximum severity score on PROM-Ataxia is 280, where all 70 questions are scored on a 0-4 Likert scale. 0 represents never and 4 represents always.
Baseline, Month 11
Mean Cerebellar Cognitive Affective Syndrome Scale (CCAS) Score
大体时间：Baseline, Month 11
SCA patients may have cognitive impairment, presumed to come from the dysfunctional cerebellum. Therefore, cognition status will be measured by the Cerebellar Cognitive Affective Syndrome Scale (CCAS). The CCAS evaluates multiple cognitive domains such as executive function, attention, memory, language, visual-spatial skills, abstract reasoning, and neuropsychiatric features. The total possible score is 120 points; the Pass / Fail measure provides a maximum fail score of 10 (i.e., 10 failed tests). A fail score of 0 is normal. In a patient with cerebellar disease, a fail score of 1 indicates Possible CCAS, a fail score of 2 indicates Probable CCAS, and a fail score of 3 or more indicates Definite CCAS.
Baseline, Month 11
Mean Patient Health Questionnaire (PHQ-9) Score
大体时间：Baseline, Month 11
To assess depression symptoms, the Patient Health Questionnaire assessment will be used. The PHQ is a 9-item patient-reported assessment which asks how often a patient has experienced a symptom in the prior 2 weeks. Responses range from "0" (Not at all) to "3" (nearly every day). Scores range from 0 to 27, with total scores over 10 indicating a presence of depression.
Baseline, Month 11
Mean Generalized Anxiety Disorder (GAD) Scale Score
大体时间：Baseline, Month 11
To assess anxiety symptoms, the GAD scale will be used. The Generalized Anxiety Disorder (GAD) scale is a 7-item patient-reported assessment which assesses how often a patient has experienced a symptom of anxiety in the last 2 weeks. To assess depression symptoms, the Patient Health Questionnaire assessment will be used. Responses range from "0" (Not at all) to "3" (nearly every day). Scores range from 0 to 21, with total scores over 10 indicating a presence of anxiety.
Baseline, Month 11
Mean Patient Global Impression (PGI) Score
大体时间：Baseline, Month 11
The Patient Global Impression (PGI) scores are single-item patient-reported assessments. This study will use the severity (PGI-S) and change (PGI-C) scores.
Baseline, Month 11
Mean Gait Measure of Ataxia
大体时间：Baseline, Month 11
Kinematic measures of ataxia will be measured by 6 wearable sensors from the APDM Mobility Lab System. The system has recently been validated to track cerebellar ataxia severity in SCA patients. SCA patients have increased postural sway, increased toe-out angle variability, and increased double-support time variability. APDM sensors will also be used to study different gait cycles and finger-to-target movements as indicators for gait and hand ataxia, respectively.
Baseline, Month 11
Mean Postural Kinematic Measure of Ataxia
大体时间：Baseline, Month 11
Kinematic measures of ataxia will be measured by 6 wearable sensors from the APDM Mobility Lab System. The system has recently been validated to track cerebellar ataxia severity in SCA patients. SCA patients have increased postural sway, increased toe-out angle variability, and increased double-support time variability. APDM sensors will also be used to study different gait cycles and finger-to-target movements as indicators for gait and hand ataxia, respectively.
Baseline, Month 11
Mean EQ-5D-3L Score
大体时间：Baseline, Month 11
The EQ-5D-3L is a self-assessed, health related, quality of life questionnaire. The scale measures quality of life on a 5-component scale including mobility, self-care, usual activities, pain/discomfort, and anxiety/depression.
Baseline, Month 11

其他结果措施

结果测量
措施说明
大体时间
Number of evaluable recordings completed by participants
大体时间：From Implant to End of Study (Approximately 11 Months)
EEG, EMG, and LFP recordings will be collected at rest and during ataxia-eliciting behaviors at specified study visits to characterize activity, as well as assess how DN-DBS modulates oscillatory activity and coupling, across the cerebellothalamocorticomuscular (CTCM) network.
From Implant to End of Study (Approximately 11 Months)

合作者和调查者

在这里您可以找到参与这项研究的人员和组织。

赞助

Gordon H. Baltuch

合作者

National Institute of Neurological Disorders and Stroke (NINDS)

调查人员

  • 首席研究员：Gordon Baltuch, MD、CUIMC
  • 研究主任：Sheng-Han Kuo, MD、CUIMC

研究记录日期

这些日期跟踪向 ClinicalTrials.gov 提交研究记录和摘要结果的进度。研究记录和报告的结果由国家医学图书馆 (NLM) 审查，以确保它们在发布到公共网站之前符合特定的质量控制标准。

研究主要日期

学习开始 (估计的)

2026年10月1日

初级完成 (估计的)

2029年12月1日

研究完成 (估计的)

2030年6月1日

研究注册日期

首次提交

2026年7月29日

首先提交符合 QC 标准的

2026年8月3日

首次发布 (实际的)

2026年8月7日

研究记录更新

最后更新发布 (实际的)

2026年8月7日

上次提交的符合 QC 标准的更新

2026年8月3日

最后验证

2026年8月1日

更多信息

与本研究相关的术语

其他研究编号

  • ACYY0046
  • 1UG3NS140720-01 (美国 NIH 拨款/合同)

计划个人参与者数据 (IPD)

计划共享个人参与者数据 (IPD)？

未定

药物和器械信息、研究文件

研究美国 FDA 监管的药品

不

研究美国 FDA 监管的设备产品

是的

此信息直接从 clinicaltrials.gov 网站检索，没有任何更改。如果您有任何更改、删除或更新研究详细信息的请求，请联系 register@clinicaltrials.gov. clinicaltrials.gov 上实施更改，我们的网站上也会自动更新.

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