West Syndrome

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 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 efficacy of perampanel as an additional therapy for children and adolescents with pediatric epileptic syndrome and partial-onset seizures. The study aims to measure how well perampanel reduces seizure frequency, focusing on the 50% responder rate during the maintenance phase of the core study. This phase 2, open-label trial includes participants from 1 month to less than 18 years old with specific epilepsy diagnoses. The study includes a Core Study and two Extension Phases. The Core Study starts with a 4-week screening period, followed by a 23-week treatment period divided into a 10-week titration phase and a 13-week maintenance phase. Participants receive perampanel oral suspension or tablets once daily for up to 56 weeks. Those completing the Core Study may join Extension Phase A, which has a 33-week treatment period and a 4-week follow-up. Extension Phase B is available for participants in areas without commercial perampanel or extended access programs, continuing treatment as deemed beneficial by investigators. Throughout the study, participants will undergo regular assessments including seizure frequency monitoring, cognitive and behavioral evaluations, growth and development measurements, and safety checks such as vital signs, laboratory tests, and electroencephalograms. Researchers will track responders who achieve seizure reductions and evaluate overall clinical impressions and drug effects. Participation may last up to about 60 weeks, including all phases and follow-up periods, with careful monitoring of adverse events and treatment impact.

Researchers are investigating how to prevent relapse in infants with Infantile Epileptic Spasms Syndrome (IESS) who have responded to standard treatment. This study aims to find out if low-dose prednisolone is safe, well tolerated, and can reduce the risk of relapse, which is linked to poor long-term outcomes like autism and other types of epilepsy. The study is a Phase 2 randomized clinical trial with a quadruple-blind design conducted by the University of California, Los Angeles. Participants will be randomly assigned to receive either low-dose prednisolone with famotidine or matching placebos for 4 months. During the first 7 months, patients will have monthly clinic visits including electroencephalography (EEG) to monitor their condition. After this period, they will have a final evaluation at age 2 years to assess relapse, development of other seizures, and behavioral outcomes. The study also evaluates the feasibility of the treatment and study procedures. Throughout the trial, infants will be closely monitored for any treatment-related side effects and for relapse of epileptic spasms. Researchers will assess developmental and behavioral status at age 2 years and track the incidence of autism spectrum disorder. Safety is monitored from enrollment through the 5-month visit, and participants are followed until their last evaluation at age 2 years. Total participation lasts until the child reaches 2 years of age, with regular visits and assessments to ensure careful observation.

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.

Researchers are evaluating the safety and feasibility of two EEG-guided treatment strategies for controlling refractory status epilepticus after cardiac arrest. This Phase II clinical trial focuses on unconscious patients who have been resuscitated from cardiac arrest but develop seizures that are resistant to standard anti-seizure medications. The study aims to determine whether guiding anesthetic treatment to achieve burst suppression or seizure suppression on EEG is more effective for seizure control in this critical condition. Participants will be randomly assigned to one of two groups. One group will receive intravenous anesthesia adjusted to produce burst suppression on continuous EEG for 24 hours, while the other group will receive anesthesia aimed at seizure suppression on EEG for the same duration. If seizures recur, the assigned EEG target treatment may be repeated for another 24-hour cycle. After the treatment periods, anesthetics will be tapered with continued EEG monitoring. During the study, researchers will closely monitor seizure control, neurological function at discharge and up to 180 days later, seizure recurrence, and treatment intensity. Safety monitoring includes watching for side effects like low blood pressure and metabolic complications related to anesthetics. The total study duration includes initial treatment and follow-up assessments to evaluate outcomes such as death or disability and seizure recurrence within specified timeframes.

Researchers are studying patients over 60 years old undergoing major non-cardiac surgery to find the best blood pressure level to maintain during surgery for optimal brain health. This observational study aims to determine if non-invasive monitors measuring brain electrical activity (EEG) and blood oxygen levels (cerebral oximetry) can help tailor blood pressure for each individual and understand how much this optimal level differs between patients. Participants will have EEG and cerebral oximetry monitoring stickers placed on their foreheads before surgery, which will collect data throughout the surgery and up to 24 hours afterward or until extubation. These monitors will be connected to specialized equipment that records brain and blood pressure data in real-time without affecting medical care. The study includes assessments before surgery, during surgery, and after surgery, including cognitive and delirium testing using standardized tools like the Montreal Cognitive Assessment (MoCA) and Confusion Assessment Method (CAM). During the study, participants will complete questionnaires about their brain health at enrollment and daily after surgery. They will undergo baseline cognitive testing before surgery, continuous brain monitoring during surgery, and daily cognitive and delirium assessments during hospitalization. Follow-up assessments by phone will occur at one month and six months after surgery. Researchers will also collect medical data such as medications, pain scores, and vital signs to analyze alongside cognitive outcomes. The primary focus is on measuring cerebral autoregulation and brain function related to blood pressure during and after surgery.