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NCT07304089
Stride Dystonia is a randomized, double-blind, placebo-controlled study to evaluate the efficacy, safety, and tolerability of VIM0423 in individuals with isolated dystonia. The main objectives of this clinical trial are to determine the following: * Does VIM0423 therapy improve dystonia symptoms compared to placebo? * Is VIM0423 well tolerated in individuals with isolated dystonia? and * Do the therapeutic effects of VIM0423 confer improvements on daily function and quality of life?
NCT01019343
Background: * Previous studies have given researchers information on how the brain controls movement, how people learn to make fine, skilled movements, and why some people have movement disorders. However, further research is needed to learn more about the causes of most movement disorders, such as Parkinson's disease. * By using small, specialized studies to evaluate people with movement disorders and compare them with healthy volunteers, researchers hope to learn more about the changes in the brain and possible causes of movement disorders. Objectives: * To better understand how the brain controls movement. * To learn more about movement disorders. * To train movement disorder specialists. Eligibility: * Individuals 18 years of age or older who have had a movement disorder diagnosed by a neurologist and are able to participate based on the specific requirements of the small study. * Healthy volunteers 18 years of age or older. Design: * Participants will have a screening visit with medical history, physical examination, and questionnaire to determine eligibility. Eligible participants will give consent to participate in up to seven additional outpatient visits for study procedures. The number of sessions and the procedures needed for participation depend on specific symptoms. * Participants must avoid drinking alcohol or caffeinated drinks (sodas, coffee, and tea) for at least 2 days (48 hours) before each session. * Potential studies may include magnetic resonance imaging (MRI) scans, functional MRI scans, electroencephalography, magnetoencephalography, transcranial magnetic stimulation, nerve and sensory stimulation, or movement and mental tasks during any of the above procedures. * This study does not provide treatment for movement disorders. Participants will not have to stop any treatment in order to participate.
NCT02686125
To compile characteristics of real-world outcomes of Boston Scientific Corporation's commercially approved VerciseTM Deep Brain Stimulation (DBS) Systems for the treatment of dystonia.
NCT07417280
Low intensity focused ultrasound (LIFUS) has the potential to be used as a means of non-invasive neuro-modulation. To this day, the use of LIFUS is under investigation. Studies in healthy subjects have shown that application of LIFUS to the motor region of the brain can mildly decrease neuron excitability in healthy controls. The purpose of the present study is to evaluate the effects of LIFUS on brain tissue excitability in patients with movement disorders in order to elucidate the therapeutic potential of LIFUS.
NCT05671068
Background: Myoclonus dystonia (DYT-SGCE) is characterized by myoclonus and dystonia. Such condition is associated with a high prevalence of psychiatric symptoms which are part of the phenotype. The mechanisms underlying these non-motor symptoms are still poorly understood. Objective: To investigate the neural correlates of cognition and emotion in DYT-SGCE. Design: Participants will have 1 - 2 visits at the clinical center. The total participation time is less than 24 hours. Participants will have a medical interview and a neurological exam. They may give a urine sample before MRI. Participants will have a short neuropsychologic and psychiatric interviews. Participants will have MRI scans. They will do small tasks or be asked to imagine things during the scanning.
NCT01581580
Background: \- Deep brain stimulation (DBS) is an approved surgery for certain movement disorders, like Parkinson's disease, that do not respond well to other treatments. DBS uses a battery-powered device called a neurostimulator (like a pacemaker) that is placed under the skin in the chest. It is used to stimulate the areas of the brain that affect movement. Stimulating these areas helps to block the nerve signals that cause abnormal movements. Researchers also want to record the brain function of people with movement disorders during the surgery. Objectives: * To study how DBS surgery affects Parkinson s disease, dystonia, and tremor. * To obtain information on brain and nerve cell function during DBS surgery. Eligibility: \- People at least 18 years of age who have movement disorders, like Parkinson's disease, essential tremor, and dystonia. Design: * Researchers will screen patients with physical and neurological exams to decide whether they can have the surgery. Patients will also have a medical history, blood tests, imaging studies, and other tests. Before the surgery, participants will practice movement and memory tests. * During surgery, the stimulator will be placed to provide the right amount of stimulation for the brain. Patients will perform the movement and memory tests that they practiced earlier. * After surgery, participants will recover in the hospital. They will have a followup visit within 4 weeks to turn on and adjust the stimulator. The stimulator has to be programmed and adjusted over weeks to months to find the best settings. * Participants will return for followup visits at 1, 2, and 3 months after surgery. Researchers will test their movement, memory, and general quality of life. Each visit will last about 2 hours.
NCT07323602
This study aims to investigate whether preoperative gait characteristics, measured by wearable sensors, can predict the clinical outcomes of Deep Brain Stimulation (DBS) in patients with dystonia. Participants scheduled for DBS surgery will undergo gait analysis using wearable sensors before the procedure. Clinical assessments, including the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and the SF-36 Health Survey, will be conducted preoperatively and postoperatively to evaluate surgical efficacy and quality of life. The study seeks to identify gait biomarkers that correlate with optimal DBS response.
NCT07309133
The goal of this clinical trial is to learn whether local field potential (LFP) signals recorded from the globus pallidus interna (GPi) using the Medtronic Percept™ deep brain stimulation (DBS) device can help optimize DBS programming for people with dystonia. The study will also explore whether LFP patterns can serve as a biomarker of disease activity and predict treatment response. The main questions it aims to answer are: Do LFP peaks in the alpha-theta range reliably correlate with dystonia severity and clinical characteristics? Can LFP-based programming achieve similar or better clinical outcomes compared to traditional programming methods? How do LFP profiles change with stimulation and other treatments such as botulinum toxin or oral medications? Researchers will compare two programming approaches: Traditional programming based on clinical assessment and imaging. LFP-guided programming based on the site and characteristics of LFP peaks Participants will: Undergo DBS surgery for dystonia as part of standard clinical care. Attend regular follow-up visits for DBS programming and outcome assessments. Complete clinical rating scales for dystonia severity, quality of life, cognition, and mood. Take part in neurophysiological assessments, including surface EMG, EEG, and reaction time tasks. Have LFP recordings collected using the Medtronic Percept™ device during clinic visits and, where possible, at home using device sensing features. This study will help determine whether LFP analysis can shorten the time to optimal DBS settings and improve outcomes for people with dystonia.
NCT03938363
Efficient gait requires effective postural control, both static and dynamic. Hence, postural disorders may affect gait. Yet, very little is known about the specific effects of focal postural disorders such as cervical dystonia (CD) and blepharospasm (BS) on patients' mobility. The present research therefore aims at analyzing gait characteristics in patients presenting with these conditions in order to document possible gait alterations. In addition, the investigators will explore the effect of botulinum toxin treatment, which the most frequently used therapeutic option, on the patients' gait characteristics. Indeed, while the treatment improves both dystonia and pain, and therefore quality of life, its influence on gait is presently unknown. the investigators aim at filling this knowledge gap
NCT04421365
The researchers will develop and evaluate the use of adaptive closed-loop brain-computer interface therapeutic intervention in laryngeal dystonia.
NCT05150106
The researchers will systematically evaluate current and novel clinical voice assessment tools and measures to elucidate distinct clinical phenotypes of those with laryngeal dystonia and voice tremor.
NCT03027310
Background: Researchers have some data on how the brain controls movement and why some people have tremor. But the causes of tremor are not fully known. Researchers want to study people with tremor to learn about changes in the brain and possible causes of tremor. Objective: To better understand how the brain controls movement, learn more about tremor, and train movement disorder specialists. Eligibility: People ages 18 and older with a diagnosed tremor syndrome Healthy volunteers ages 18 and older Design: Participants will be screened with: * Medical history * Physical exam * Urine tests * Clinical rating scales * Health questions * They may have electromyography (EMG) or accelerometry. Sensors or electrodes taped to the skin measure movement. Participation lasts up to 1 year. Some participants will have a visit to examine their tremor more. They may have rating scales, EMG, and drawing and writing tests. Participants will be in 1 or more substudies. These will require up to 7 visits. Visits could include the following: * EMG with accelerometry * Small electrodes taped on the body give small electric shocks that stimulate nerves. * MRI: Participants lie on a table that slides into a cylinder that takes pictures of the body while they do simple tasks. * Small electrodes on the scalp record brain waves. * A cone with detectors on the head measures brain activity while participants do tasks. * A wire coil held on the scalp gives an electrical current that affects brain activity. * Tests for thinking, memory, smell, hearing, or vision * Electrodes on the head give a weak electrical current that affects brain activity. * Photographs or videos of movement Participant data may be shared with other researchers.
NCT02689466
Background: Dystonia is a movement disorder in which a person s muscles contract on their own. This causes different parts of the body to twist or turn. The cause of this movement is unknown. Researchers think it may have to do with a chemical called acetylcholine. They want to learn more about why acetylcholine in the brain doesn t work properly in people with dystonia. Objective: To better understand how certain parts of the brain take up acetylcholine in people with dystonia. Eligibility: Adults at least 18 years old who have DYT1 dystonia or cervical dystonia. Healthy adult volunteers. Design: Participants will be screened with a medical history, physical exam, and pregnancy test. Study visit 1: Participants will have a magnetic resonance imaging (MRI) scan of the brain. The MRI scanner is a metal cylinder in a strong magnetic field that takes pictures of the brain. Participants will lie on a table that slides in and out of the cylinder. Study visit 2: Participants will have a positron emission tomography (PET) scan. The PET scanner is shaped like a doughnut. Participants will lie on a bed that slides in and out of the scanner. A small amount of a radioactive chemical that can be detected by the PET scanner will be given through an IV line to measure how the brain takes up acetylcholine. ...
NCT01272154
Purpose \- Objective : Sensorimotor adaptation allows the modification of the motor command taking into account the errors detected during execution of prior movements. It involves a large cortico-subcortical network. Isolated lesions of this network do not systematically alter sensorimotor adaptation except for cerebellar lesions. The cerebellum is thus a key structure for sensorimotor adaptation. However, the link between cerebellar and the cortical plasticity underlying sensorimotor adaptation remain unknown. Alteration of sensorimotor adaptation is associated with dystonia but it is unclear whether it is a cause or consequence of dystonia. It has been hypothesized that the abnormal plasticity observed in dystonia could account for the associated alteration of sensorimotor adaptation. Classically, basal ganglia dysfunction is considered to be crucial for dystonia pathogenesis. However, recent studies suggest that the involvement of the cerebellum may also be important in this setting. In primary dystonia, imaging studies showed abnormal cerebellar activation during sensorimotor adaptation tasks and neurophysiological studies demonstrated a decrease of cerebellar output. The aim of this study is to investigate the role of the cerebellum in the cortical plasticity underlying sensorimotor adaptation both in healthy subjects (normal plasticity) and in dystonic patients (abnormal plasticity). \- Methods: Paired associative stimulation PAS consists in repetitive pairing of a peripheral nerve and a cortical stimulation. This kind of stimulation has been designed to induce artificial plasticity that can be easily measured. This PAS induced sensorimotor plasticity is exacerbated and has lost its topographical specificity in dystonic patients.TMS using trains of TMS pulses (rTMS) can be applied on the cerebellum to modulate its output. We will test the effect of rTMS induced modulation (cTBS- inhibitory, iTBS-excitatory, sham) of the cerebellar output on PAS induced plasticity in patients with dystonia and healthy control. We will also assess the acute effect of the rTMS induced modulation of the cerebellar output on the dystonic symptoms and on the performance at a validated sensorimotor adaptation task. This will be done by double blind post-hoc scoring of the dystonia (BFM or TWSTRS) on standardized videorecording and measurement of the performance at the task after each rTMS session (cTBS, iTBS, sham). Finally, we will assess the variation of PAS effect on other parameters reflecting cortical excitability after each rTMS session (cTBS, iTBS, sham).
NCT07140302
The goal of this clinical trial is to evaluate the safety and clinical outcomes of stereotactic surgery (Deep Brain Stimulation or Radiofrequency Lesioning) in patients with dystonia. The main questions it aims to answer are: * Does stereotactic surgery improve dystonia severity as measured by the Burke-Fahn-Marsden Dystonia Rating Scale - Motor (BFMDRS-M)? * Are the procedures safe, with an acceptable complication profile during follow-up? Participants will: * Undergo stereotactic surgery for dystonia (either Deep Brain Stimulation or Radiofrequency Lesioning, based on clinical indication). * Be followed postoperatively for assessment of motor function and adverse events at the first postoperative week and six months after surgery.
NCT06967727
The Registry and Natural History of Epilepsy-Dyskinesia Syndromes is focused on gathering longitudinal clinical data as well as biological samples (blood, urine, and/or skin/tissue) from male and female patients, of all ages, who have a genetic diagnosis of epilepsy-dyskinesia syndromes. Through prospective review and molecular data analysis, the study aims to identify patterns and correlations between movement and seizure disorders, uncovering genotype-phenotype relationships. The initiative's goals are to enhance understanding of epilepsy-dyskinesia syndromes, inform precision medicine approaches, and foster international collaboration.
NCT06999096
Dystonia is a motor disorder caused by involuntary, intermittent, or sustained muscle contractions, leading to abnormal movements or postures. It can affect any body region and often results in significant functional disability and healthcare burden. Although its familial nature was recognized early on, the advent of high-throughput DNA sequencing has dramatically increased the identification of dystonia-associated genes. Dystonia now encompasses all modes of inheritance-autosomal dominant (e.g., TOR1A, KMT2B), autosomal recessive, X-linked, and mitochondrial-and over 100 genes have been implicated. Many forms involve structural variants (SVs) or copy number variations (CNVs), which are challenging to detect using standard short-read sequencing (srWGS). Molecular diagnosis is essential, ending the diagnostic odyssey and enabling genetic counseling, prognosis, reproductive planning, and-in some cases-targeted therapies. For instance, GNAO1-related dystonia may respond to deep brain stimulation, while dopa-responsive dystonia benefits from levodopa. Despite advances, srWGS has key limitations, especially for detecting repeat expansions, SVs, and phasing alleles. This likely explains the low diagnostic yield in dystonia compared to other neurological disorders, with over 70% of cases remaining unsolved. Long-read sequencing (lrWGS), such as Oxford Nanopore technology, overcomes many of these challenges by reading native DNA fragments thousands of bases long. It enables comprehensive detection of SNVs, indels, SVs, CNVs, methylation changes, and repeat expansions-including known and newly discovered pathogenic expansions (e.g., in NOTCH2NLC). It also allows phasing without parental samples, which is crucial in recessive cases. The investigators propose that lrWGS could significantly increase the diagnostic yield in dystonia, improving patient care, enabling appropriate genetic counseling, and paving the way for personalized treatment strategies.
NCT02504905
Background: \- People with dystonia have muscle contractions they can t control. These cause slow, repeated motions or abnormal postures. People with dystonia have abnormalities in certain parts of the brain. Researchers want to study the activity of two different brain areas in people with writer s cramp and cervical dystonia. Objective: \- To compare brain activity in people with dystonia to that in healthy people. Eligibility: * Right-handed people ages of 18-65 with cervical dystonia or writer s cramp. * Healthy volunteers the same ages. Design: * Participants will be screened with a physical exam. They will answer questions about being right- or left-handed. * At study visit 1, participants will:\<TAB\> * Have a neurological exam. * Answer questions about how their disease impacts their daily activities. * Have a structural magnetic resonance imaging (MRI) scan. Participants will lie on a table that can slide \<TAB\>in and out of a metal cylinder. This is surrounded by a strong magnetic field. * Do 2 simple computer tasks. * At study visit 2: * Participants will have transcranial magnetic stimulations (TMS) at 2 places on the head. Two wire coils will be held on the scalp. A brief electrical current creates a magnetic pulse that affects brain activity. Muscles of the face, arm, or leg might twitch. Participants may have to tense certain muscles or do simple tasks during TMS. They may be asked to rate any discomfort caused by TMS. * Muscle activity in the right hand will be recorded by electrodes stuck to the skin of that hand.
NCT06328114
This study aims to investigate the impact of accelerated transcranial magnetic stimulation (TMS) on brain function and behavior in patients with focal cervical dystonia. Previous research demonstrated that individualized TMS improved writing behavior in focal hand dystonia after one session. In this study, we aim to expand the application on TMS on focal cervical dystonia. The current study administers four TMS sessions in a day. The research involves 9 in-person visits. The effect of TMS will be assessed using functional MRI brain scans and behavioral measurements. The risk of TMS includes seizures; the potential risk of seizures from TMS is mitigated through careful screening, adhering to safety guidelines. The study's main benefit is enhancing dystonic behavior and deepening the understanding of brain changes caused by TMS in cervical dystonia, paving the way for further advancements in clinical therapy for this condition.
NCT06036199
The primary objective of the proposed study is to evaluate the safety of ExAblate Transcranial MRgFUS as a tool for creating bilateral or unilateral lesions in the globus pallidus (GPi) in patients with treatment-refractory secondary dystonia due to dyskinetic cerebral palsy