Infantile Spasm

Researchers are studying the brain's action observation network (AON), which is involved in understanding and imitating movements, especially focusing on subcortical areas and the cerebellum. The study aims to explore how this network functions in healthy individuals and in people with Cerebral Palsy (CP) who have early brain injuries. This research seeks to understand differences in brain activation patterns and their relation to clinical features in CP patients using advanced imaging techniques. Participants will undergo a 7 Tesla MRI scan using a high-resolution functional and anatomical protocol. The MRI will capture detailed images of brain structures including the cerebral cortex, subcortical nuclei, and cerebellum. Visual tasks involving observation of hand movements and tool use will be presented during the scan. CP patients will also receive a full clinical assessment before the MRI. The study includes both healthy volunteers and CP patients, with careful monitoring of participant compliance to avoid motion artifacts. During the study, researchers will evaluate brain activation and connectivity maps of the AON from the 7T MRI data. Participants' motor functions and clinical characteristics will be assessed for correlation with imaging results. The study involves observation during MRI scanning, clinical assessments, and monitoring of participants' responses to visual stimuli. This trial is expected to provide detailed insights into brain network organization and its changes in CP. The total participation includes MRI scanning and clinical evaluations around a single visit.

Adults with cerebral palsy (CP) often face difficulties in accessing exercise programs tailored to their needs due to limited mobility, lack of suitable options, and restricted physiotherapy access. Regular exercise is important for improving physical health, mental well-being, and overall quality of life, but many adults with CP do not have structured opportunities for physical activity. This research aims to evaluate the feasibility of delivering an accessible online exercise program designed specifically for adults with CP, focusing on demand, practicality, acceptability, and potential benefits to physical, mental, and social health. The study will recruit 60 adults with CP who will be randomly assigned to one of two groups. One group will participate in an 8-week online exercise and education program that includes weekly online exercise classes targeting strength, balance, and range of movement, along with educational materials covering topics like exercise, nutrition, fatigue, bone health, pain management, mental health, and sleep. The other group will receive the same educational materials over 8 weeks without the exercise classes and will be informed about the home exercise program after the intervention period. Participants will be monitored throughout the study with data collected on attendance, completion rates, engagement with exercises, and any adverse events. Health-related surveys will be completed before and after the program to assess changes in physical function, mobility, pain, fatigue, sleep, self-efficacy, depression, and participation. Selected participants will also provide feedback through interviews. The study duration includes rolling recruitment over 1.2 years and outcome measurements over 2 years, aiming to support the development of effective online exercise programs for adults with CP.

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 evaluating a new therapy approach called MOBILE to improve walking ability in children and teens with Cerebral Palsy. This study aims to find out if the therapy is acceptable and helpful to both the children and their families when provided in a community setting. The key questions include whether participants tolerate the therapy, if families find it manageable, and if children complete all therapy sessions and assessments as planned over the course of the study. The therapy uses motor learning principles to target each child's specific walking goal. Participants will complete a total of 30 hours of therapy over 6 weeks, with at least 24 hours conducted in a clinic. The remaining hours can be done through a home program. This flexible format allows children to choose how they complete their therapy sessions while focusing on improving their walking patterns. During the study, children will be assessed before and after therapy to see if they meet their walking goals. Researchers will also interview participants about their experience with the therapy. Various outcome measures will be tracked over 2 years, including recruitment, adherence, retention, adverse events, fidelity to the intervention, and the acceptability of the therapy. Functional walking tests and quality of life assessments will be done at baseline, post-intervention, and at a 3-month follow-up. Participants are involved in therapy sessions, assessments, and interviews throughout the study period.

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.

This research aims to evaluate the feasibility and usefulness of two types of play-based training programs delivered by researchers and caregivers at home or in community settings. These programs focus on improving arm function in children aged 3 to 8 years with hemiplegia, a condition causing weakness on one side of the body. The study compares a joystick-operated powered ride-on toy program called SPEED training with a creative upper extremity training program called CRAFT training, assessing their acceptance, implementation, and impact on arm use and motor skills. Participants will be randomly assigned to either the SPEED or CRAFT training group. The SPEED group uses ride-on toys modified for joystick control on the affected side, involving navigation games and object tasks to encourage arm use. The CRAFT group engages in seated creative motor games, stretching, strengthening, building, and art activities using the affected arm. Training sessions last 30-45 minutes twice weekly for 6 weeks, with caregivers providing two additional 15-20 minute sessions weekly. The ride-on toy is kept at home during the intervention, and families log all training and other therapies received. Before starting, children undergo standardized assessments and wear sensors and activity monitors to track arm use over a week. These evaluations and caregiver questionnaires are repeated after the 6-week intervention and at a 1-month follow-up. Researchers video record sessions for scoring and monitor treatment adherence, retention, satisfaction, and changes in arm function, strength, movement control, and habitual activity. Participation lasts about 12 weeks, including pretests, intervention, posttests, and follow-up assessments.

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.