Restless Legs Syndrome

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.

The trial investigates the WatchPAT (WP) device's ability to detect sleep disorders compared to the gold standard polysomnography (PSG) in patients suspected of sleep disorders. Participants include individuals referred for sleep studies or those with comorbidities related to central sleep apnea. The study is prospective and blinded, aiming to gather data on the WP device's performance during clinical sleep evaluations. Participants will spend one night in a clinical sleep laboratory where they will simultaneously wear the WP device with a finger probe and chest sensor while undergoing a full-night PSG recording with standard channels. The PSG data will be recorded and manually scored without access to WP data to maintain blinding, while the WP device data will be analyzed automatically. This design allows comparison between the WP device and PSG results. During the study night, demographic and medical information will be collected from participants or their medical charts. Researchers will assess the Apnea-Hypopnea Index (AHI) and sleep stages from one night of sleep as primary outcomes, with the Respiratory Disturbance Index (RDI) as a secondary outcome. The study involves a single overnight visit with no long-term follow-up, focusing on accurately measuring sleep disorder indicators through both methods.

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 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 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.

Willis-Ekbom disease (WED), also called restless legs syndrome (RLS), is a common neurological disorder that affects sleep and quality of life. It is thought to involve central dopamine dysfunction linked to brain iron deficiency. Many people with WED have periodic limb movements during sleep, which cause sleep interruptions and repeated rises in blood pressure and heart rate. These changes may increase the risk of hypertension and cardiovascular diseases. This study aims to compare autonomic nervous system activity in patients with WED to healthy volunteers to better understand these risks. Participants will undergo measurements of cardiac sympathetic activity using a special imaging test called 123I-metaiodobenzylguanidine (123I-MIBG) scintigraphy. Additional tests include blood and urine samples to measure inflammatory markers and catecholamine levels, as well as 24-hour ambulatory blood pressure and heart rate monitoring. The study groups include patients diagnosed with WED and healthy control volunteers. These assessments will help analyze differences in sympathetic nerve activity and cardiovascular function between the groups. During the study, participants will have imaging scans, blood pressure monitoring over 24 hours, and laboratory tests on blood and urine samples. Researchers will measure heart and blood pressure changes related to sleep stages, limb movements, and arousals. The main outcome is the heart-to-mediastinum ratio from the 123I-MIBG scan, indicating cardiac sympathetic activity. Secondary outcomes include the washout rate of the tracer, circadian blood pressure patterns, and biomarker levels. The study began in 2017 and is ongoing until 2027, involving adults aged 18 to 74 years.

Researchers are conducting a prospective, longitudinal natural history study to understand the clinical progression of children and adults with Synaptotagmin1-Associated Neurodevelopmental Disorder, also known as Baker Gordon Syndrome (BAGOS). The study aims to develop effective outcome measures and diagnostic tools to prepare for future clinical trials, focusing on demographic, genetic, environmental factors, treatments, and medications linked to the disorder's development and outcomes. Participants will undergo various assessments including standard scales and questionnaires to evaluate global development, language, memory, and motor functions. They will keep sleep and seizure diaries, provide a small blood sample for whole genome sequencing and proteomic analysis, and have brain imaging via MRI and electroencephalography (EEG) to identify disease biomarkers. A small skin sample will be collected to develop patient-specific stem cells for further research on the impact of Synaptotagmin1 mutations. During the 24-month study, participants and their caregivers will be assessed using neurological and disability evaluation scales, behavior assessments, and other developmental tests. Researchers will collect medical data, monitor motor milestones, and evaluate sleep and attention. Caregivers and legal representatives will also participate by completing questionnaires and consenting to study procedures. The goal is to enhance understanding of BAGOS and prepare the healthcare system for future treatments.

Researchers are evaluating a behavioral intervention designed to improve glucose metabolism during pregnancy in African American women who are overweight or obese. This randomized controlled trial compares a culturally tailored sleep-focused intervention to an attention control group to see how each affects maternal metabolic health. The study aims to address disparities in pregnancy complications among this population by focusing on sleep hygiene and cognitive-behavioral techniques. Participants are randomly assigned to one of two groups: the BETTER intervention, which includes sleep hygiene practices and cognitive-behavioral principles, or the Birth-Prep control group, which involves training about pregnancy-related topics and follow-up. The trial takes place at the University of Illinois health clinics and monitors participants from 16 to 22 weeks of gestation through later pregnancy stages. During the study, participants undergo baseline and follow-up assessments of fasting glucose and insulin resistance between 16 and 36 weeks of gestation. Sleep quality and duration are also evaluated subjectively and objectively at multiple time points. Medical records are reviewed up to three months post-delivery to capture pregnancy outcomes. The trial includes regular monitoring and data collection to assess the effects of the interventions on maternal glucose metabolism and sleep patterns.

Researchers are investigating how exercise affects molecules in the blood of adults with restless legs syndrome (RLS) to better understand what causes this condition. The study aims to find out how long-term exercise and a single exercise session change protein levels in the blood. Participants will be assigned to either an exercise group or a no-exercise group to compare these effects. Participants in the exercise group will follow a 12-week program specifically designed for people with RLS. This program includes strength training, cardiovascular exercise like walking or bicycling, and stretching sessions three times per week. Those in the no-exercise group will not receive any intervention or interaction during the same 12-week period. Both groups will complete exercise tests and provide blood samples before and after the program. Throughout the study, participants will undergo assessments including blood protein analysis and measures of RLS severity, cardiorespiratory fitness, and sleep patterns at the start and after 12 weeks. The researchers will monitor changes in protein expression profiles twice at baseline and twice at the 12-week follow-up. This will help determine the effects of exercise on RLS symptoms and related biological markers.