Hypotonia

Researchers are evaluating the safety and technical feasibility of a new brain-machine interface (BCI)-assisted spinal cord stimulation (SCS) combined with an exoskeleton (EXS) system in adults aged 14 to 65 with chronic spinal cord injury (SCI). This study aims to determine if this system can safely and effectively improve lower limb motor function and quality of life in people who have had SCI for at least six months and have certain levels of motor impairment. Participants will receive implanted devices including high-density ECoG electrodes over the motor cortex and spinal cord stimulation electrodes at T11-L2. The system will be calibrated to synchronize the brain signals decoded by the BCI with the spinal cord stimulation and exoskeleton-assisted gait training. After implantation and calibration phases, participants will engage in daily one-hour training sessions, five times per week for one year, with ongoing adjustments to the system based on performance. Safety and efficacy will be assessed at multiple time points up to 12 months post-implantation. During the study, participants will be monitored through various assessments including motor function tests, neurophysiological measures, quality of life surveys, and device performance checks. Researchers will track adverse events and technical device data to evaluate safety. Follow-up visits will occur at 1, 2, 3, 6, and 12 months after device implantation. The study includes remote monitoring for device function and emergency support if needed, with a total participation time of at least one year.

Researchers are studying the use of robotics, sensors, and surface electromyography (sEMG) to create clinic-friendly methods for measuring rehabilitation effectiveness and developing personalized rehabilitation programs. This observational study includes healthy volunteers as well as patients with motor deficits and dysphagia, aiming to improve assessment techniques for these groups. Participants undergo motor function assessments using scales, sEMG, and inertia sensors to gather detailed movement and muscle activity data. These assessments are performed across different groups including healthy individuals, those with motor impairments like post-stroke hemiplegia, and patients with swallowing difficulties. During the study, participants' motor function changes are evaluated at one month from baseline using motor assessments, surface EMG, and kinematic tests. The study tracks how these measures change over time to better understand rehabilitation progress. The total participation period includes initial testing and follow-up assessments to monitor motor function improvements or changes.

Researchers are studying how advanced analysis of echocardiogram images combined with patient data can help diagnose the causes of certain heart diseases. This study focuses on building accurate and explainable artificial intelligence (AI) models to predict the origin of cardiac conditions, particularly hypokinetic cardiomyopathy and left ventricular hypertrophy, using echocardiographic information. The goal is to develop digital tools that improve understanding and diagnosis of heart disease causes. The study includes two groups of patients: one with hypokinetic cardiomyopathy where heart function is reduced but the cause is unclear, and another with left ventricular hypertrophy, a condition where the heart muscle is thickened due to various potential causes. Researchers will use echocardiographic data and patient clinical information collected during routine care, such as cardiac CT, MRI, or coronary angiography, to train and test AI algorithms. These algorithms will learn from 80% of the collected data and be evaluated on the remaining 20%. Participants will provide echocardiogram images of sufficient quality for analysis. The researchers will compare AI-based diagnoses with those made by physicians using additional tests to evaluate AI accuracy. The main measure is how well the AI predicts the cause of heart disease compared to standard medical diagnosis. The study does not involve treatment changes and will continue until 2027, with participants contributing data for AI development and validation.

Researchers are investigating how muscle health recovers after a period of inactivity by studying healthy adults aged 18-35 and 60-85. This interventional study aims to understand muscle changes during and after a 2-week leg immobilization period. The study plans to enroll 45 participants and will take place over 1 to 2 months. Participants will undergo a series of visits including initial blood screening, oral glucose tolerance testing, muscle biopsies, blood draws, body composition scans, MRI, and muscle strength testing. After the second visit, participants will have their leg immobilized for 14 days at home using provided equipment. Additional visits include blood draw during immobilization and multiple assessments shortly after immobilization ends. Throughout the study, researchers will monitor thigh muscle volume and leg muscle strength before and after immobilization. Activity levels will be tracked with a step monitor, and dietary assessments will be conducted. The study involves multiple muscle biopsies and imaging tests to measure muscle health and recovery, with the total participation lasting up to two months.

Researchers are investigating how using a lightweight head-mounted eye tracker (HMET) can help understand looking behavior, visual focus, and social interaction in toddlers with motor delays during power mobility training. The study compares training with specific environmental features, training without these features, and conventional therapy. It also evaluates outcomes related to body function, daily activities, participation, family perceptions, and explores how temperament, motivation, and caregiver-child interactions relate across these training programs. The study involves 30 toddlers aged 1 to 3 years with motor delays, randomly assigned to one of three groups: ROC-Stand training with specific environmental features (ROC-Stand(SE)), ROC-Stand training without specific environmental features (ROC-Stand(NSE)), and conventional therapy (Control), with 10 toddlers in each. Each toddler will receive 48 hours of training over 24 weeks, with two 2-hour sessions per week for 12 weeks, followed by a 12-week follow-up. Participants will continue their regular therapy throughout. During training, toddlers wear the HMET weekly for 20 minutes to record eye gaze and manual actions. Participants will undergo assessments before the intervention, after 12 weeks of training, and after the 12-week follow-up. These assessments include standardized tests of body function, mobility, psychosocial function, family perception, and participation. An activity log and caregiver feedback are collected weekly. The study aims to identify key environmental factors for early power mobility training and provide families and therapists with structured guidance on these techniques.

Motor deficits like lower limb weakness caused by lumbar disc herniation often require surgical treatment through microdiscectomy. This observational study aims to identify preoperative factors that may affect how well patients recover muscle strength after microdiscectomy for lumbar disc herniation. Researchers will examine factors such as severity and duration of paresis, age, body mass index, diabetes, and characteristics of the herniated disc. The study will include patients with motor deficits due to lumbar disc herniation who are scheduled for a single-level lumbar microdiscectomy. It is a prospective multicenter study involving three neurosurgical departments. Researchers will analyze primary factors like muscle strength and duration of paresis before surgery, along with secondary factors including obesity, diabetes, disc location, and morphology. Participants will be evaluated for muscle strength using the Medical Research Council Scale before and after surgery to categorize their recovery as full, partial, or none. Additional assessments include pain levels, functionality, and quality of life. The study plans to enroll 40 patients and will follow them through the perioperative period to understand how these preoperative factors influence surgical outcomes.

Researchers are evaluating the effects of different high-tech neurorehabilitation methods on cognitive and motor disabilities in people with multiple sclerosis (MS). The study aims to understand which patients benefit most from combined cognitive-motor rehabilitation compared to isolated cognitive or motor treatments. Participants are assigned to one of three groups: cognitive training using a computerized device for 60 minutes, robot-assisted gait training with the G-EO System for 60 minutes, or a combined group receiving 30 minutes of each type of training with breaks between sessions. The combined group will have sessions in varying sequences to reduce fatigue. Participants will undergo various cognitive and motor tests before treatment, after eight weeks of treatment, and two months post-treatment. These include the Symbol Digit Modalities Test, 2-minute walking test, and several other assessments measuring cognitive function, motor ability, fatigue, and quality of life. Satisfaction with treatment is also evaluated at the end. The study involves randomized assignment and single masking.

Researchers are studying toddlers aged 1 to 3 years with motor delays that affect their ability to walk independently. The study compares the effects of different intensity levels of early powered mobility training, called ROC-Stand, on looking behaviors, visual fixation, and social interaction. It also evaluates short-term and long-term outcomes related to body function, activity, participation, family perceptions, and caregiver-child interaction. The goal is to identify which training intensity best supports development and to understand individual differences in response to these treatments. Participants are randomly assigned to one of three groups: a 2-hour session of ROC-Stand training twice a week for 12 weeks, a 1-hour session of ROC-Stand training twice a week for 24 weeks, or a 1-hour session of conventional therapy twice a week for 24 weeks. Each session includes activities like goal-oriented driving in public spaces and natural play, with a focus on motor skills and socialization. During training, toddlers wear a lightweight head-mounted eye-tracker to record their visual and interactive behaviors. All groups continue their regular therapy throughout the year-long study. Participants undergo assessments at four points: before training, and at 3, 6, and 12 months after starting. These include standardized developmental tests, family perception questionnaires, and activity logs. Eye-tracking data are analyzed by trained coders to evaluate looking and social behaviors. Researchers monitor training conditions, caregiver feedback, and therapy outside the study. The primary outcome measures changes in looking and fixation behaviors over 24 weeks, while secondary outcomes assess developmental progress, motor skills, family stress, and participation. The study spans one year to capture both immediate and lasting effects of the interventions.

Researchers are studying individuals with genetic variants in hnRNP and other genes that are linked to neurodevelopmental disorders. These disorders affect the development of the central nervous system and can cause developmental delay, intellectual disability, autism spectrum features, and muscle tone abnormalities. The study aims to understand the patterns of neurological and medical issues in people with these genetic changes by collecting both past clinical data and new information over time. This is a non-interventional, observational study that collects medical data routinely gathered during clinical care. Participants with confirmed genetic variants related to neurodevelopmental abnormalities will be included. Researchers will collect data through questionnaires, neuropsychological and motor assessments, and electroencephalography to evaluate various aspects of the disorders. The study focuses on a range of hnRNP genes and other related genes. Participants will provide information through assessments that measure behavior, sleep, sensory issues, social communication, anxiety, language skills, executive functioning, motor performance, and daily activities over a period of 5 years. The study will also review neurological tests such as brain MRI and EEG. The research team will maintain an ongoing database to analyze medical and educational impairments associated with the genetic variants. The study is expected to continue until December 2030.

Researchers are studying how different amounts of dietary protein affect muscle protein synthesis in healthy, active adults who experience muscle disuse due to injury. The study focuses on overcoming muscle loss caused by reduced muscle use, which leads to a negative balance between muscle protein breakdown and synthesis. This work aims to identify the optimal protein dose to stimulate muscle rebuilding during periods of immobilization to improve recovery from musculoskeletal injuries. Participants will undergo a randomized, double-blind study where one leg is immobilized using a knee brace fixed at about 60 degrees of flexion for five days, while the other leg remains active as a control. During immobilization, diets will be standardized. After this phase, participants will consume either 20 grams or 40 grams of whey protein as a beverage to evaluate muscle protein synthesis responses in both legs. Throughout the study, participants will undergo stable isotope infusions, blood draws, and muscle biopsies to measure muscle protein synthesis rates. Researchers will assess how muscle responds to the protein doses after immobilization, using advanced methods like 2H5-Phenylalanine stable isotope techniques. The trial will help develop nutritional strategies to preserve muscle mass and support recovery after injury. The study includes careful monitoring of diet, physical activity, and safety, with participation lasting at least the immobilization and protein feeding phases.