Dystonia

Researchers are studying the brains 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.

The GENESIS clinical study aims to map HLA genetic variation in the Greek population and evaluate possible correlations with selected underlying diseases. It is a multicenter, prospective, non-interventional clinical study targeting 12,000 subjects over an anticipated duration of 36 months, with the goal of creating a pilot HLA map for medical research and possible clinical applications. Each subject will complete one visit at a participating site and provide demographic information, including date of birth, gender, race, ancestry, height, and weight, as well as information about smoking or vaping, alcohol consumption, arterial blood pressure, diagnosed diseases, and current treatments. Recent clinical laboratory results from up to 12 months before sample collection may also be collected when available, including blood count, metabolic, liver enzyme, and biochemical parameters. Two buccal swabs will be collected from each subject for DNA extraction and HLA genotyping analysis. Selected DNA samples will also undergo low-pass whole genome sequencing to further investigate associations between the HLA region and autoimmune diseases. After the analysis is completed, an individualized ancestry report will be securely available to study subjects if they elect to access it.

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 childs 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 postoperative respiratory complications PORC in children with obstructive sleep apnea OSA who undergo adenotonsillectomy. It combines data from two centers University Hospital Antwerp and Heim Pal National Pediatric Institute in Hungary. The study examines how common these complications are and whether they vary according to different health conditions such as obesity, craniofacial malformations, Down syndrome, or neurological disorders that affect airway muscle tone. Data come from a retrospective analysis of electronic health records originally collected in two prospective studies. These records include children who had adenotonsillectomy for OSA, with postoperative care following a set protocol. The study looks at factors like the obstructive apnea-hypopnea index, oxygen levels during sleep studies, age at surgery, and presence of other health conditions to understand their relationship with PORC and to help develop a management plan. Participants information was collected without needing additional consent because it uses existing anonymized data. Researchers assess the prevalence of PORC within 24 hours after surgery and analyze how different factors affect this risk. This study does not involve new treatments but reviews existing data to improve postoperative care. The study includes children aged 1 to 18 years who had adenotonsillectomy for OSA, with follow-up limited to the immediate postoperative period.

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.

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 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.

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 long-term safety of buntanetap in people with Parkinsons Disease PD. This 36-month open-label study involves two groups one includes PD participants previously in buntanetap trials, and the other includes participants receiving deep brain stimulation DBS treatment. The study aims to monitor safety and adverse events related to buntanetap over an extended period. Qualified participants will take buntanetap capsules at a dose of 30 mg once daily after a screening period lasting up to 42 days. Cohort 1 includes those invited from prior buntanetap studies, while Cohort 2 consists of PD participants treated with DBS in specific brain areas for at least 12 months. Medication adjustments are required before visits to observe participants in an OFF medication state. Throughout the study, participants will have regular assessments conducted by trained clinicians using tools like MMSE, MoCA, C-SSRS, and MDS-UPDRS to evaluate cognitive and motor functions. Safety will be closely monitored, focusing on adverse events during the full 36 months. Support persons will accompany participants to visits, and medication stability and general health will be regularly evaluated to ensure study compliance and participant well-being.