Conegliano

Researchers are studying omaveloxolone, also known as BIIB141 or SKYCLARYS, to understand its effects and safety in children and teens aged 2 to 15 years with Friedreichs Ataxia FA. Omaveloxolone is already approved for people 16 years and older, but this study focuses on younger participants to see how the drug affects their FA symptoms, overall health, and heart function. The study also examines how the body processes omaveloxolone in this younger age group. Participants will first be screened for up to 4 weeks to determine eligibility. In Part 1, they will be randomly assigned to receive either omaveloxolone or a placebo by mouth once daily for about one year in a double-blind setup. Participants will have up to 9 clinic visits and 1 phone call during this time. Those who complete Part 1 can join Part 2, where all participants will receive omaveloxolone openly for about two years, with up to 8 clinic visits and 1 phone call. After stopping the medication, a follow-up phone call will occur about one month later. Throughout the study, participants will undergo various assessments including the modified Friedreichs Ataxia Rating Scale mFARS, questionnaires on quality of life and daily activities, and tests of muscle strength and nerve function. Researchers will monitor safety by tracking adverse events and heart health through echocardiograms. The total participation time can be up to three years, including all visits and follow-ups, to evaluate long-term effects and safety of omaveloxolone in young people with FA.

Researchers are evaluating the long-term safety of a drug called BIIB141, also known as omaveloxolone or SKYCLARYS4, in people with Friedreichs Ataxia FA. This observational study collects health information from participants without changing their medical care. It involves participants from the Friedreichs Ataxia Global Clinical Consortium FA GCC UNIFIED Natural History Study UNIFAI to better understand how FA affects patients and to monitor safety events related to the drug. Participants are divided into two groups those who will start omaveloxolone treatment as prescribed by their doctors during the study, and those who have started treatment less than 12 months before joining. Participants will be followed for up to 5 years. Doctors will decide how often participants visit based on clinical judgment and drug labeling. Data will be collected at multiple time points, including 1, 2, 3, 6, 12, 24, 36, 48, and 60 months. During the study, researchers will monitor serious adverse events, including heart failure and liver damage related to the drug. They will also track reasons for stopping treatment, leaving the study, or taking more of the drug than prescribed. Participants remain under their own doctors care, and health data from regular visits will be collected throughout the study period.

Researchers are evaluating the safety and effectiveness of pulmonary vein isolation PVI using high power short duration HPSD radiofrequency energy in patients with paroxysmal or persistent atrial fibrillation AF. This prospective, multi-center study aims to understand the relationship between clinical and procedural factors and the success and safety of this ablation method, with a follow-up period of 12 months to monitor AF recurrence. Patients with paroxysmal or persistent AF will undergo catheter ablation using approved mapping systems and catheters. The procedure involves sedation or anesthesia, vascular access through femoral or subclavian veins, and placement of diagnostic and ablation catheters in the left atrium. Ablation is performed with a QDot Micro catheter delivering radiofrequency energy in specific modes to isolate pulmonary veins. Effectiveness of the isolation is confirmed during the procedure, and any reconnections are addressed. Post-procedure, an ECG and optional echocardiogram are done to check for complications. During the 12-month follow-up, patients will have regular assessments at 3 months including history, physical exams, ECG, and 24-hour Holter monitoring to detect arrhythmia recurrence. Additional follow-ups between 6 and 12 months help confirm freedom from arrhythmia if no symptoms are reported. Researchers will measure outcomes such as arrhythmia recurrence rates, procedural times, vein reconnection, anesthesia impact, pain perception, and fluoroscopy duration to evaluate the procedures overall safety and efficacy.

Researchers are investigating the brain mechanisms involved in spatial navigation skills in children and adolescents aged 8 to 17 years. These skills help individuals find their way, locate objects, and remember their positions in both familiar and new environments. The study focuses on comparing typically developing children with those affected by cerebral palsy CP to better understand differences in navigation abilities and how they relate to the condition. Participants will complete a navigation task within an immersive virtual reality environment while their brain activity is recorded using an electroencephalogram EEG. They will wear virtual reality viewers and an EEG cap as they navigate a five-way maze to find a treasure across 30 attempts, each lasting up to two minutes. Before this, their cognitive and spatial navigation skills will be assessed using tests like the Raven test, Corsi test, and the maze sub-test of the WISC-III. During the study, researchers will evaluate brain signal patterns and navigation performance from the single session of EEG recording and task completion. The study will measure power spectral density and navigation success to understand neural activity linked to navigation skills. This research aims to improve knowledge about spatial navigation in childhood and CP, potentially guiding future rehabilitation approaches. Participation includes one visit with assessments and virtual reality testing.

Researchers are investigating Friedreichs Ataxia FRDA, a progressive neurodegenerative disease caused by mutations in the FXN gene, which leads to reduced frataxin protein and impaired iron regulation. This condition affects motor and sensory functions, as well as cognitive and emotional abilities, due to cerebellar degeneration and changes in brain networks connecting the cerebellum and cortex. The study aims to identify neurophysiological biomarkers and explore how brain connectivity relates to cognitive function and clinical severity, especially in response to rehabilitation. Participants with genetically confirmed FRDA, aged 8 to 60 years and with a SARA score below 30, will undergo high-density electroencephalogram HD-EEG recordings both at rest and during an upper limb motor task. They will also complete detailed neuropsychological testing covering memory, attention, language, visuospatial skills, and other cognitive and emotional areas. Following initial assessments, participants will engage in a 3- to 4-week intensive rehabilitation program. HD-EEG recordings will be repeated after treatment and again one year later to track changes in brain connectivity and identify potential markers linked to disease progression. Throughout the study, participants will be assessed with neuropsychological scales and clinical motor scales SARA and mFARS alongside HD-EEG data collection. The primary measures focus on brain connectivity and functional activity changes from enrollment through treatment and the one-year follow-up. The study will evaluate correlations between brain activity patterns and cognitive and motor function over time, aiming to better understand disease mechanisms. Total study participation will include baseline assessments, rehabilitation, post-treatment evaluations, and long-term follow-up at one year.

Researchers are conducting a global, multicenter, prospective, longitudinal, observational natural history study to better understand Friedreich ataxia, a rare inherited neurological and cardiac condition caused by mutations in the FXN gene. This study aims to support the development of safe and effective drugs and biological treatments by tracking the disease progression in diagnosed individuals worldwide over time. Participants will be assessed annually for up to 25 years through yearly study visits. Data collection includes medical records, neurological exams, timed walking tests, upper limb function measures, and patient-reported quality of life assessments. Additional optional assessments at some sites may cover speech, vision, fatigue, balance, and cognition. This study combines previous natural history studies to strengthen data and expand research networks globally. During the study, participants will undergo evaluations such as neurological and functional assessments, cardiac examinations, laboratory tests, and health questionnaires. Researchers will monitor changes in clinical outcomes like disease progression, symptom severity, and quality of life using measures including the modified Friedreich Ataxia Rating Scale and the Scale for the Assessment and Rating of Ataxia. This long-term observation aims to identify disease milestones, track treatment impacts, and inform future clinical trials and outcome measures.

Researchers are evaluating the effectiveness of conventional and intensive physiotherapy to improve gross motor skills such as posture, walking, and balance in children and young adults affected by posterior fossa tumors. These tumors are located in the cranial posterior fossa, and surgery to remove them can lead to ataxia, a condition affecting coordination and movement. The study aims to provide evidence on motor rehabilitation for this group, which currently lacks sufficient scientific data. The study focuses on intensive physiotherapy defined as two 45-minute sessions daily, five days a week, over four weeks. This therapy is personalized to each participants needs and mainly targets gross motor function and balance improvement. Conventional physiotherapy is provided one-on-one without the use of robotic or virtual reality devices, although treadmill training is allowed. The interventions are observed without randomization or placebo. Participants will be assessed at enrollment and after four weeks of treatment using several measures the Gross Motor Function Measure GMFM to evaluate overall motor skills, the WeeFIM or FIM for daily living autonomy, the Pediatric Balance Scale for fall risk, the Scale for Assessment and Rating of Ataxia, the six-minute walking test for walking endurance, and gait analysis. These evaluations help track progress and safety throughout the study period ending in January 2026.

This research investigates epilepsy by studying how the brains structural and functional networks relate to the condition. It focuses on understanding the epileptogenic network, which is a complex brain network involved in generating seizures, rather than just a single epileptogenic zone. Researchers aim to explore how these brain networks differ in people with epilepsy compared to healthy individuals and how these differences may impact cognitive functions. Participants will undergo diagnostic tests including the reconstruction of brain connections from EEG and MRI data. The study observes resting state EEG and MRI scans to analyze functional and structural brain networks. This observational study uses noninvasive methods and simulative models based on routine MRI scans to identify and validate hypotheses about the epileptogenic network. During the study, participants will have their brain connectivity measured once at recruitment to identify regional changes in functional connectivity and to assess the spread of the epileptogenic network. They will also participate in neuropsychological assessments. The study runs from June 2023 to December 2026 and includes patients aged 6 to 65 years with epilepsy, with no active treatment changes involved.

Researchers are observing walking patterns and fatigue in adults with neuromuscular diseases such as muscular dystrophies, myopathies, spinal muscular atrophy, and Charcot-Marie Tooth disease. The study aims to objectively measure fatigue through clinical walking tests and to explore how feasible it is to collect physical activity data during daily life using wearable sensors over a one-week period. Participants include adults aged 18 to 75 who can walk independently, with or without assistance. The study involves observing walking speed variability during a six-minute walking test and monitoring physical activity in everyday settings using wearable devices. Both patients with neuromuscular diseases and a control group are included for comparison. During the study, participants will undergo a six-minute walking test to assess changes in walking speed and gait variability. Subjective fatigue levels and clinical progression of their neuromuscular condition will also be recorded. Physical activity will be monitored for one week with wearable sensors to gather data on daily life movements. The study includes healthy volunteers and runs until December 2026.

This research aims to assess the early safety and effectiveness of a procedure called percutaneous deep foot venous arterialization in patients with chronic limb-threatening ischemia CLTI who have no other revascularization options. CLTI is the most advanced stage of lower limb arterial disease, carrying high risks of death and major amputation. About 5-10% of patients with peripheral arterial disease develop CLTI, which has a 20% mortality rate within six months of diagnosis. For some patients, standard revascularization methods are not possible or effective, and this study explores an alternative approach to restore blood flow. The study is a multicenter, prospective, single-arm observational study including patients undergoing the PiPER procedure, which involves using veins to reroute arterial blood flow to the foot instead of damaged arteries. The procedure will follow current clinical practice without extra tests or procedures. Patients will be monitored through clinic visits at 30 days, 6 months, 12 months, and 24 months after the procedure to track their progress. Participants will be involved in scheduled follow-up visits where researchers will collect data on their demographics, medical history, treatment details, and health outcomes for up to two years. Assessments will include safety outcomes at 30 days and 6 months, procedural success, blood vessel openness, amputation rates, wound size, oxygen levels in tissues, and disease severity classifications at several intervals. This long-term monitoring aims to evaluate the procedures safety and effectiveness in this high-risk patient group.