Myoclonus

Researchers are evaluating RAP-219, an investigational drug, for adults with refractory focal epilepsy, a condition involving difficult-to-control focal seizures. This open-label, multi-center study aims to assess the long-term safety, tolerability, how the drug behaves in the body, and its antiseizure activity in adults who have not responded well to previous treatments. Participants will receive RAP-219 starting with one 0.125 mg capsule daily for 3 days, then one 0.25 mg tablet daily for 28 days, followed by one 0.75 mg tablet daily for the rest of the treatment period. The study is open-label, meaning all participants know they are receiving RAP-219, and the treatment period may last up to 112 weeks with ongoing monitoring. During the study, participants will be regularly assessed for treatment-related side effects and seizure frequency compared to their baseline before treatment. Researchers will monitor seizure-free days, longest seizure-free intervals, and other seizure-related measures using clinical assessments and RNS system data. Safety will be tracked through adverse event reporting up to 8 weeks after the last dose. The total participation duration can be up to about 2 years, with ongoing evaluations throughout.

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 monitoring people with advanced idiopathic Parkinson's 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.

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 evaluating the safety, tolerability, and initial effectiveness of low-intensity focused ultrasound (LIFU) neuromodulation using the NaviFUS System in patients with drug-resistant unilateral or bilateral temporal lobe epilepsy (DR-TLE). This pilot study involves adults with epilepsy that has not responded to standard medications, aiming to reduce abnormal brain activity and seizures. Participants will undergo six LIFU treatment sessions over three consecutive weeks. Each treatment uses specific ultrasound exposure settings delivered by the NaviFUS System. Before treatment, patients will be observed and asked to keep a seizure diary for 8 weeks. After completing treatments, there is a 12-week follow-up period to monitor outcomes. Patients may continue their anti-seizure medications throughout the study. Participants will keep a seizure diary throughout the study to track seizure frequency and severity. Researchers will also assess safety by monitoring adverse events for up to 23 weeks. Additional evaluations include EEG scans to observe changes in brain activity, and questionnaires that measure anxiety, depression, and the personal impact of epilepsy. The total study duration includes a 2-month baseline, 3 weeks of treatment, and 12 weeks of follow-up.

Researchers are evaluating the long-term safety and effectiveness of Abbott deep brain stimulation (DBS) systems used for various movement disorders, including Parkinson's 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 Parkinson's 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.

Researchers are evaluating the use of Pulsed Low-Intensity Focused Ultrasound (PLIFU) to reduce or suppress seizure activity in adults experiencing non-convulsive or focal motor status epilepticus (SE) who have not responded to standard treatments. The study focuses on brain regions that generate or control seizures, aiming to assess the effects of this non-invasive brain stimulation in a hospital setting. Participants will receive up to two sessions of PLIFU treatment in the Intensive Care Unit. Each session lasts 10 minutes and uses a custom device that delivers ultrasound to specific brain areas without damaging tissue. Treatments will be given after anti-seizure medications have been administered, and the ultrasound is applied using safe, non-thermal settings. During the study, participants will be monitored continuously with surface EEG to measure epileptic brain activity before, during, and after PLIFU treatment. Researchers will observe changes in seizure activity and follow participants throughout their hospital stay. The main outcome is the change in epileptiform activity measured by EEG at baseline and 10 minutes after treatment. The study aims to gather preliminary data to support future research.

Researchers are evaluating the effectiveness of an AI-personalized mobile app called Medilepsy in improving medication adherence and transition readiness among underserved adolescents and young adults with epilepsy, ages 14 to 24, in Florida. This study compares the AI-enhanced version of the app with a standard version that does not include AI personalization. The research focuses on key outcomes including medical adherence, usability, and language experience. Participants are randomly assigned to one of two groups: the intervention group uses the AI-personalized Medilepsy app with an interactive Smart Chatbot that provides tailored prompts, adaptive education, and personalized support for epilepsy self-management. The comparison group receives a standard version of the Medilepsy app, which offers static prompts and general educational content without personalized feedback. The study lasts 3 to 6 months, during which participants use their assigned app version. During the study, participants will be monitored for medication adherence and transition readiness skills through app usage and assessments. Researchers will evaluate the usability of the app at the end of the 3 to 6 month period. The study collects data on how well the AI features support epilepsy management compared to the standard app version. Safety and participant engagement are also observed throughout the trial duration.

This research investigates the safety and effectiveness of two forms of mexiletine—prolonged-release (PR) and immediate-release (IR)—in patients with non-dystrophic myotonias, including myotonia congenita, paramyotonia congenita, and sodium channel myotonia. This multicenter, open-label, randomized, cross-over study aims to compare these forms to better understand their effects on this condition. The study plans to enroll 24 patients, split evenly between those who are new to mexiletine treatment and those with previous treatment experience. Participants will undergo a 4-week screening followed by two 12-week treatment periods. Initially, patients will be randomly assigned to receive either mexiletine PR once daily or mexiletine IR three times daily. After a washout period of at least 7 days, they will switch to the other treatment for another 12 weeks. Different doses of mexiletine PR (167 mg, 333 mg, or 500 mg) and mexiletine IR (167 mg) are used to assess safety and efficacy. Throughout the study, participants will be closely monitored through patient and physician reports of adverse events, electrocardiograms (ECGs), laboratory tests, physical exams, and vital signs. Efficacy will be measured using patient-reported outcomes and functional tests such as handgrip relaxation time, timed walking tests, and quality of life assessments. The main safety comparisons include heart rhythm intervals and rates, with observations continuing from baseline through week 24.

Researchers are investigating how individuals with limb weakness, limb paralysis, limb loss, or movement disorders move in various settings using different assistive devices and technologies. The study aims to understand how these devices impact human movement to improve technology and prepare for commercialization. Participants include both nondisabled individuals and those with disabilities who use assistive devices such as prostheses and orthoses. The study compares participants using their usual assistive devices or no device with those using investigational or commercially available devices, including prosthetic knees, ankles, feet, and ankle-foot orthoses. Activities are categorized into movement analysis in the laboratory and outside it, usability testing, and focus groups. Participants may complete different combinations of these activities, possibly more than once. During the study, participants will undergo various movement tests including walking speed, sit-to-stand timing, and the Timed Up and Go test, both with and without assistive devices. Assessments are collected at baseline and immediately after acclimating to the intervention. Participants’ perceptions are recorded, and safety during treadmill use is ensured. The study’s involvement varies per individual and includes multiple assessments to evaluate assistive technology impact on mobility.