Cerebellar Ataxia

Researchers are developing a multicenter registry to collect and share data on pediatric patients who have undergone deep brain stimulation DBS for movement disorders such as dystonia, epilepsy, Tourette syndrome, and mood disorders. The study aims to improve understanding of DBS safety and effectiveness in children, as current data are limited and individual centers often have too few cases for strong research. This registry will support large-scale analyses and help refine DBS as a treatment option for hyperkinetic movement disorders in the pediatric population. The study involves gathering both retrospective and prospective clinical data from multiple pediatric centers. The registry will collect information on surgical techniques, patient outcomes, implant sites, and long-term effects of DBS. This collaborative data-sharing approach enables comprehensive evaluation of which patients benefit most from DBS and how it impacts their quality of life over time. Participants include children aged 0 to 18 years who have already received or are scheduled to receive DBS for neurological movement disorders. Data will be collected over five years to monitor safety, efficacy, and quality of life outcomes. The study does not involve treatment administration but focuses on gathering and analyzing clinical information. Parental or legal guardian consent is required for prospective participation.

Researchers are studying how muscle and brain interactions relate to neurodegenerative diseases NDGs such as Amyotrophic Lateral Sclerosis, Alzheimers Disease, and Parkinsons Disease, as well as aging. The study explores whether changes at the neuromuscular junction, where muscle and nerve communicate, contribute to these conditions. It aims to identify factors that influence brain-muscle connections and how these may predict disease progression or aging outcomes. This observational case-control study includes two groups a Good Aging group of adults aged 60 or older without muscle or neurological impairments, and a Bad Aging group with patients diagnosed with NDGs or severe acquired brain injury, some with sarcopenia or cognitive issues. Researchers will collect clinical and biological data, including biomarkers, microRNA, and extracellular vesicle analyses, to better understand the muscle-brain relationship and movement issues. Participants will undergo assessments including the Edmonton Frail Scale at the start and after six months to measure frailty changes. The study will gather neurological and muscular phenotyping data to track participants health trajectories. The study spans from baseline to a 6-month follow-up, monitoring physical and cognitive function to inform future clinical strategies for minimizing risks linked to aging and neurological disorders.

Researchers are monitoring people with advanced idiopathic Parkinsons Disease who have moderate to severe motor symptoms that do not respond well to medication. This study is an international, observational registry following patients who have undergone a unilateral pallidotomy using the Exablate Neuro device. The goal is to collect long-term information about this treatment after its approval. The treatment involves a focused ultrasound procedure called unilateral pallidotomy performed with the Exablate Model 4000 system. This registry will observe patients who have already received this procedure as part of their standard care. No additional treatment is given as part of the study. Patients will be followed with visits at 3, 6, and 12 months after the procedure, and then annually for up to 5 years. During the follow-up visits, researchers will collect information including any side effects, medication use, motor function scores, dyskinesia severity, quality of life, work productivity, and overall impressions from both doctors and patients. Safety and effectiveness will be assessed mainly by tracking responder outcomes over five years. Participants will be closely monitored throughout the study period, which may last up to five years from the time of the procedure.

Cerebellar ataxia is a condition that affects coordination, balance, walking, limb movements, and eye movements due to problems in the cerebellum. This study aims to understand the clinical and genetic features of cerebellar ataxia by creating a registered group of Chinese patients with this condition to follow over time. This observational study does not involve any treatment or intervention. It includes patients diagnosed with cerebellar ataxia by two neurologists, their relatives, and unrelated healthy individuals to serve as controls. Participants or their legal guardians must be willing and able to give informed consent. Participants will be followed up for up to 20 years to observe the occurrence of hereditary cerebellar ataxia. Researchers will collect clinical and genetic information during the study period. The study also tracks participant adherence and compliance with scheduled visits, with attention to those able to complete trial procedures and visit schedules.

Cognitive problems often occur in people with neurodegenerative diseases. Researchers are exploring how sleep disorders relate to the progression of these diseases by studying their clinical signs, brain imaging, and biological markers. This observational study aims to better understand the mechanisms behind sleep problems in neurodegenerative conditions. Participants will have assessments including neuropsychological tests, brain MRI scans, and electroencephalograms. Biological samples will also be collected to measure markers like plasma Ab2-42 levels. These evaluations will help observe changes in sleep quality, cognitive function, heart rate variability, and other relevant outcomes over time. People in the study will undergo baseline and follow-up tests such as the Pittsburgh Sleep Quality Index PSQI, Montreal Cognitive Assessment MoCA, and Addenbrookes Cognitive Examination ACE-III. Researchers will monitor sleep patterns and biological markers to track disease progression. The study includes adults aged 30 to 80 years and will continue through June 2030, providing long-term data on sleep disorders linked to neurodegeneration.

Researchers are investigating epilepsy-dyskinesia syndromes, which are rare genetic diseases causing both movement disorders and epilepsy in children. This multinational retrospective survey, supported by the International Parkinson and Movement Disorder Society, aims to collect detailed clinical and molecular data to better understand these conditions. The study focuses on identifying patterns in disease features, progression, and genetic links to improve knowledge and support precision medicine. The study collects previously recorded data from multiple countries, harmonizing information on clinical features, disease progression, age of onset, genetic variants, and coexisting neurological conditions. By standardizing this data, the survey addresses challenges in rare disease research like small, dispersed patient groups and inconsistent protocols. The goal is to build a shared clinical database and analyze how movement and seizure disorders relate at both clinical and molecular levels. Participants are children aged 0 to 18 years with diagnosed movement disorders linked to specific genetic variants. The study reviews existing medical records and genetic information without new treatments or interventions. Researchers will assess the disease spectrum, how movement disorders affect quality of life, and the effectiveness of symptomatic treatments over one year. The study encourages international collaboration to advance understanding and improve care for these rare conditions.

Researchers are studying spinocerebellar ataxia types 1 and 3 SCA1 and SCA3 and Huntingtons disease HD, which are serious genetic neurodegenerative disorders without current treatments to slow their progression. This first-in-human trial evaluates a new drug called VO659, designed to target harmful gene mutations by binding to specific RNA sequences. The study aims to assess the safety, tolerability, and how the drug moves through and affects the body when given via spinal injections.

Researchers are evaluating an experimental vestibular implant system designed to improve balance in adults with bilateral vestibulopathy, a condition causing balance deficits and hearing loss. The implant is combined with a cochlear implant sound processor and programming software, aiming to preserve hearing in the implanted ear. This study focuses on adults with normal to severe hearing loss in the inner ear who have not benefited from conventional rehabilitation. The vestibular implant is surgically placed under the skin behind the ear in the mastoid bone and includes an electrode that stimulates the vestibular nerve. A sound processor worn behind the ear powers the implant via a coil. Participants will receive this implant and undergo a personalized rehabilitation program. The study evaluates changes in balance and hearing over time after implantation. Participants will be assessed before surgery and followed for six months after activation of the implant. Assessments include balance performance tests like the Dynamic Gait Index and Functional Gait Assessment, posturography tests, hearing threshold measurements, and questionnaires on dizziness, fall risk, and quality of life. Device or procedure-related adverse events will also be monitored throughout the study period.

Researchers are studying how electrical stimulation combined with walking practice impacts the connections between the brain and muscles in able-bodied adults. The goal is to develop new personalized rehabilitation methods based on understanding how brain and spinal circuits respond to these stimulations to improve walking performance. This preliminary study focuses on healthy individuals to explore changes in brain circuits and gait performance induced by electrical stimulation and stepping practice. Participants will take part in 1 to 5 sessions over 2 to 8 weeks. Sessions include treadmill or overground walking practice with or without functional electrical stimulation FES applied to leg muscles. FES is delivered during specific phases of walking using a specialized device to stimulate ankle muscles. Some participants will also undergo paired associative stimulation combining peripheral electrical stimulation and cortical magnetic pulses. Walking bouts range from 30 seconds to 6 minutes with rest breaks. During visits lasting up to 5 hours each, researchers will measure brain and spinal cord circuit excitability noninvasively before, during, and after walking or stimulation sessions. Assessments include gait performance and neurophysiology tests lasting up to 36 minutes. The study tracks changes in how brain and spinal circuits control muscles and walking ability. Participants safety, ability to follow commands, and informed consent are ensured throughout the study, which continues until December 2026.

Researchers are evaluating the long-term safety and effectiveness of Abbott deep brain stimulation DBS systems used for various movement disorders, including Parkinsons disease, essential tremor, disabling tremor, and dystonia. This international, prospective, multicenter study collects data from patients implanted with Abbott DBS devices during routine clinical care to understand outcomes over time. Participants implanted with the Abbott DBS system will be observed without altering their treatment, as this is an observational study. The study follows subjects for five years from their initial programming visit to gather information on device performance and patient motor function over time. During the study, participants will have regular assessments using disease-specific motor rating scales such as MDS-UPDRS Part III for Parkinsons disease and FTM-TRS for tremor. Researchers will monitor changes in motor symptoms and record any serious device- or procedure-related adverse events. Study involvement lasts for five years, allowing long-term collection of safety and effectiveness data.