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Cerebellar DBS in SCA1 and SCA3 Study

3 sierpnia 2026 zaktualizowane przez: 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.

Przegląd badań

Status

Jeszcze nie rekrutacja

Warunki

Interwencja / Leczenie

Szczegółowy opis

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.

Typ studiów

Interwencyjne

Zapisy (Szacowany)

12

Faza

  • Nie dotyczy

Kontakty i lokalizacje

Ta sekcja zawiera dane kontaktowe osób prowadzących badanie oraz informacje o tym, gdzie badanie jest przeprowadzane.

Kontakt w sprawie studiów

Kopia zapasowa kontaktu do badania

Lokalizacje studiów

  • Stany Zjednoczone
    • New York
      • New York, New York, Stany Zjednoczone, 10032
        • Columbia University Irving Medical Center
        • Kontakt:
        • Kontakt:
        • Główny śledczy:
          • Gordon Baltuch, MD
        • Pod-śledczy:
          • Sheng-Han Kuo, MD
    • Ohio
      • Cleveland, Ohio, Stany Zjednoczone, 44195
        • Cleveland Clinic
        • Kontakt:
        • Główny śledczy:
          • Andre Machado, MD
        • Pod-śledczy:
          • Kenneth Baker, PhD

Kryteria uczestnictwa

Badacze szukają osób, które pasują do określonego opisu, zwanego kryteriami kwalifikacyjnymi. Niektóre przykłady tych kryteriów to ogólny stan zdrowia danej osoby lub wcześniejsze leczenie.

Kryteria kwalifikacji

Wiek uprawniający do nauki

  • Dorosły

Akceptuje zdrowych ochotników

Nie

Opis

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.

Plan studiów

Ta sekcja zawiera szczegółowe informacje na temat planu badania, w tym sposób zaprojektowania badania i jego pomiary.

Jak projektuje się badanie?

Szczegóły projektu

  • Główny cel: Leczenie
  • Przydział: Nie dotyczy
  • Model interwencyjny: Zadanie dla jednej grupy
  • Maskowanie: Brak (otwarta etykieta)

Broń i interwencje

Grupa uczestników / Arm
Interwencja / Leczenie
Eksperymentalny: 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.
Urządzenie: 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.

Inne nazwy:
  • DBS System

Co mierzy badanie?

Podstawowe miary wyniku

Miara wyniku
Opis środka
Ramy czasowe
Incidence of treatment-related adverse events
Ramy czasowe: 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

Miary wyników drugorzędnych

Miara wyniku
Opis środka
Ramy czasowe
Mean Scale for Assessing and Rating of Ataxia (SARA) Score
Ramy czasowe: 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
Ramy czasowe: 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
Ramy czasowe: 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
Ramy czasowe: 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
Ramy czasowe: 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
Ramy czasowe: 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
Ramy czasowe: 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
Ramy czasowe: 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
Ramy czasowe: 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

Inne miary wyników

Miara wyniku
Opis środka
Ramy czasowe
Number of evaluable recordings completed by participants
Ramy czasowe: 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)

Współpracownicy i badacze

Tutaj znajdziesz osoby i organizacje zaangażowane w to badanie.

Sponsor

Gordon H. Baltuch

Współpracownicy

National Institute of Neurological Disorders and Stroke (NINDS)

Śledczy

  • Główny śledczy: Gordon Baltuch, MD, CUIMC
  • Dyrektor Studium: Sheng-Han Kuo, MD, CUIMC

Daty zapisu na studia

Daty te śledzą postęp w przesyłaniu rekordów badań i podsumowań wyników do ClinicalTrials.gov. Zapisy badań i zgłoszone wyniki są przeglądane przez National Library of Medicine (NLM), aby upewnić się, że spełniają określone standardy kontroli jakości, zanim zostaną opublikowane na publicznej stronie internetowej.

Główne daty studiów

Rozpoczęcie studiów (Szacowany)

1 października 2026

Zakończenie podstawowe (Szacowany)

1 grudnia 2029

Ukończenie studiów (Szacowany)

1 czerwca 2030

Daty rejestracji na studia

Pierwszy przesłany

29 lipca 2026

Pierwszy przesłany, który spełnia kryteria kontroli jakości

3 sierpnia 2026

Pierwszy wysłany (Rzeczywisty)

7 sierpnia 2026

Aktualizacje rekordów badań

Ostatnia wysłana aktualizacja (Rzeczywisty)

7 sierpnia 2026

Ostatnia przesłana aktualizacja, która spełniała kryteria kontroli jakości

3 sierpnia 2026

Ostatnia weryfikacja

1 sierpnia 2026

Więcej informacji

Terminy związane z tym badaniem

Inne numery identyfikacyjne badania

  • ACYY0046
  • 1UG3NS140720-01 (Grant/umowa NIH USA)

Plan dla danych uczestnika indywidualnego (IPD)

Planujesz udostępniać dane poszczególnych uczestników (IPD)?

NIEZDECYDOWANY

Informacje o lekach i urządzeniach, dokumenty badawcze

Bada produkt leczniczy regulowany przez amerykańską FDA

Nie

Bada produkt urządzenia regulowany przez amerykańską FDA

Tak

Te informacje zostały pobrane bezpośrednio ze strony internetowej clinicaltrials.gov bez żadnych zmian. Jeśli chcesz zmienić, usunąć lub zaktualizować dane swojego badania, skontaktuj się z register@clinicaltrials.gov. Gdy tylko zmiana zostanie wprowadzona na stronie clinicaltrials.gov, zostanie ona automatycznie zaktualizowana również na naszej stronie internetowej .

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