Conegliano

Researchers are studying the effects and safety of BIIB141, also known as omaveloxolone or SKYCLARYS®, in children and teens aged 2 to 15 years who have Friedreich's Ataxia (FA). While this drug is already approved for people 16 years and older with FA, this study aims to learn how it works and how safe it is in younger participants. The study focuses on how BIIB141 affects FA symptoms related to balance and stability, overall health, heart function, and puberty progression. Researchers will also learn how the body processes BIIB141 in this younger group. The study has two parts. In Part 1, participants are randomly assigned to take either BIIB141 or a placebo once daily for up to 52 weeks, with visits to the research center on Day 1, Week 4, Week 12, Week 26, and Week 52, and daily doses taken at home on other days. In Part 2, which lasts up to 104 weeks, all participants receive BIIB141, continuing or starting the treatment based on their earlier group. Visits in Part 2 occur at Weeks 4, 8, 12, 26, and every 26 weeks afterward, with phone check-ins as well. Participants will be involved for up to about 3 years, including screening for eligibility before starting. The study includes up to 10 visits and several phone calls for monitoring. Researchers will assess balance and stability scores, report any medical problems or serious events, track changes in heart function, growth measurements, puberty stages, and mental health. Safety and how well participants tolerate the drug will be closely monitored throughout both parts of the study and after the last dose.

Researchers are evaluating the long-term safety of BIIB141, also known as omaveloxolone or SKYCLARYS®, in people with Friedreich's Ataxia (FA). This observational study collects health information without changing participants' medical care. It includes participants from the Friedreich's Ataxia Global Clinical Consortium (FA GCC) UNIFIED Natural History Study (UNIFAI), aiming to understand how FA affects patients over time and to monitor serious adverse events (SAEs), including heart failure and liver damage related to the drug. Participants are divided into two groups: those who have never taken omaveloxolone before and will start it within 6 months after joining the study, and those who started omaveloxolone less than 12 months before enrollment and are continuing treatment. The drug is taken as prescribed by the participant's own doctor. Study visits and health checks will occur based on the doctor's judgment and drug label recommendations. Data will be collected at multiple time points up to 60 months (5 years). During the study, researchers will gather information from regular doctor visits at 1, 2, 3, 6, 12, 24, 36, 48, and 60 months, tracking safety outcomes like serious adverse events and drug-related heart and liver problems. They will also record reasons for stopping or interrupting treatment and any instances of taking more drug than prescribed. Each participant may be involved in the study for up to 5 years, with ongoing monitoring of safety and treatment adherence.

Researchers are evaluating the safety and effectiveness of pulmonary vein isolation using high power short duration radiofrequency energy in patients with paroxysmal or persistent atrial fibrillation. This prospective, multi-center study aims to understand how clinical and procedural factors relate to the recurrence of atrial fibrillation 12 months after ablation. At least 850 patients will be enrolled to provide reliable data on treatment outcomes and safety. Patients will undergo catheter ablation with approved mapping and ablation catheters. The procedure includes sedation or anesthesia, vascular access through femoral or subclavian veins, and creation of electrical isolation around the pulmonary veins using the QDot Micro catheter at specified power and duration settings. Mapping catheters will verify effective isolation and identify any vein reconnections for additional treatment. Post-procedure assessments include ECG and optional echocardiograms to check for complications. After the ablation, participants will have regular follow-ups at 3 months and detailed evaluations up to 12 months, including physical exams, ECGs, and 24-hour Holter monitoring to detect arrhythmia recurrence. The study will measure the relationship between clinical and procedural details and arrhythmia recurrence rates, with safety and efficacy monitored throughout. Freedom from atrial fibrillation symptoms during follow-up indicates successful treatment.

Researchers are studying the brain mechanisms involved in spatial navigation skills in children and adolescents aged 8 to 17 years. These skills help people orient themselves, find objects, interact with them, and remember their locations. The study compares typically developing children with those who have cerebral palsy (CP) to better understand differences in navigation abilities and how CP affects these skills. The goal is to improve knowledge of CP and support the development of better rehabilitation methods in the future. Participants will undergo a preliminary assessment that includes cognitive testing using the Raven test and evaluation of spatial navigation skills with the Corsi test and the maze sub-test of the WISC-III. They will also complete a navigation task in an immersive virtual reality environment while wearing an EEG cap to record brain activity. During this task, participants navigate a five-way maze to find a treasure, completing up to 30 trials lasting a maximum of 120 seconds each. Throughout the study, participants will be evaluated using EEG to measure brain activity and tests to assess navigation performance. The researchers will analyze power spectral density and navigation outcomes from the virtual reality task. The study involves a single assessment period where data on brain function and navigation skills are collected to better understand spatial navigation in both typically developing children and those with CP.

The DiamondTemp Global Registry is a prospective, multi-center, observational post-market study focused on patients with arrhythmia. It aims to collect clinical performance and safety data from a wide range of patients treated with the commercially available DiamondTemp Family of Cardiac Ablation Catheters. Participants will be followed for at least 12 months after their procedure to monitor outcomes according to standard care practices at their institutions. Participants will undergo a cardiac ablation procedure using the DiamondTemp Ablation System. This device is used during the planned procedure as part of routine clinical care. There is no comparison group, as this is an observational registry collecting real-world data on the device's use. The study does not specify additional treatment phases or interventions beyond the procedure. During the study, participants will be followed for a minimum of 12 months post-procedure. Researchers will collect data on freedom from arrhythmia recurrence and any device or procedure-related adverse events during this period. Follow-up aligns with standard clinical practice, allowing assessment of both safety and effectiveness outcomes in a real-world setting.

Researchers are conducting a prospective, exploratory, multicenter pilot study to investigate the structural and functional brain connectivity in patients with Friedreich's Ataxia (FRDA), a progressive neurodegenerative disorder caused by mutations in the FXN gene. This condition leads to motor, sensory, cognitive, and emotional deficits, along with cerebellar degeneration and changes in brain networks. The study aims to identify neurophysiological biomarkers by analyzing brain activity and its relationship with cognitive function and clinical severity, especially in response to rehabilitation treatment. Participants will undergo high-density electroencephalogram (HD-EEG) recordings during resting state and while performing an upper limb motor task. Thirty patients with confirmed genetic diagnosis will be included, aged 8 to 60 years, with a Scale for the Assessment and Rating of Ataxia (SARA) score less than 30. The study involves an intensive multidisciplinary rehabilitation program lasting 3 to 4 weeks, depending on the participant's age. Brain activity and connectivity patterns will be analyzed before and after treatment, as well as one year later, to explore changes and potential disease biomarkers. Throughout the study, participants will complete detailed neuropsychological evaluations assessing memory, attention, language, visuospatial skills, executive functions, and emotional aspects. Connectivity data from HD-EEG will be correlated with cognitive profiles and clinical scores from SARA and mFARS scales. Outcome measures include connectivity and functional activity derived from HD-EEG recorded from enrollment through treatment and one year of follow-up. The study aims to monitor brain function changes and their link to clinical and cognitive outcomes over time.

This research investigates Friedreich Ataxia, a rare inherited genetic disorder causing progressive neurological and heart symptoms due to mutations in the FXN gene. The study aims to deepen understanding of the disease's natural progression and support the development of safe and effective treatments. It combines data from two established natural history studies to enhance knowledge and improve clinical trial design for this condition. The study is a global, multicenter, prospective, longitudinal, observational effort. Participants with Friedreich Ataxia will be assessed annually for up to 25 years using a standardized protocol across all sites. Data collected will include medical history, neurological exams, walking and limb function tests, and patient-reported quality of life. Optional additional assessments may explore speech, vision, fatigue, balance, and cognition. By uniting multiple research centers worldwide, the study expands the clinical consortium focused on Friedreich Ataxia. Participants will have yearly visits where researchers will gather clinical outcome data, including neurological and functional assessments, cardiac exams, lab tests, and health questionnaires. The study will track changes using measures like the modified Friedreich Ataxia Rating Scale, Scale for the Assessment and Rating of Ataxia, activities of daily living, and upright stability over time. This long-term monitoring aims to identify disease milestones, evaluate symptom progression, and inform future treatment development and trial designs.

Researchers are evaluating how conventional and intensive physiotherapy can help improve gross motor skills such as posture, walking, and balance in children who have tumors in the posterior fossa of the brain. These tumors often require surgery, which can lead to ataxia, a condition affecting coordination and balance. The study aims to provide scientific evidence on the effectiveness of different physiotherapy approaches for these children. The study compares conventional physiotherapy, which involves one-on-one sessions without robotic or virtual reality devices (except treadmill training), with an intensive physiotherapy program. The intensive intervention consists of two 45-minute sessions per day, five days a week, over four weeks. Treatments focus on enhancing gross motor function and balance, tailored to each participant's needs. Participants will be assessed at enrollment and after four weeks of treatment using the Gross Motor Function Measure (GMFM) to track improvements. Additional evaluations include assessments of daily living independence, fall risk, ataxia severity, and walking endurance through various standardized scales and tests. The total participation time spans the four-week treatment period, allowing researchers to monitor functional changes and safety during this time.

Researchers are investigating the best treatment approach for patients with acute coronary syndrome (ACS) who have intermediate narrowing (40-70% diameter stenosis) in coronary arteries not responsible for the current heart event. The study compares strategies based on optical coherence tomography (OCT), a detailed imaging method identifying vulnerable plaques, against physiology-based methods like fractional flow reserve (FFR), instantaneous wave-free ratio (iFR), and resting full-cycle ratio (RFR) that measure blood flow to guide treatment. This trial involves about 1420 ACS patients from around 40 sites worldwide and aims to clarify which method better guides intervention in these intermediate lesions. Participants are randomly assigned to one of two groups: the OCT-guided group or the physiology-guided group. In the OCT group, lesions showing specific vulnerability signs on imaging, such as thin fibrous caps and macrophage clusters, or very small minimum lumen areas, will receive treatment using a drug-eluting stent (DES). In the physiology group, treatment with DES occurs if flow measurements (iFR, RFR, or FFR) indicate significant blockage. If these criteria are not met, intervention may be deferred. Both groups use advanced devices for imaging and flow measurement to guide decisions. During the study, participants will be closely monitored for cardiac events such as cardiac death or spontaneous heart attacks related to the treated vessel over a period of 2 years, with follow-up extending to 5 years. Researchers will assess these outcomes to determine the effectiveness of each strategy. The study includes detailed imaging, physiological assessments, and clinical evaluations to track patient progress and safety throughout the trial.

Researchers are investigating the brain's structural and functional networks in people with epilepsy, focusing on how alterations in these networks relate to seizure activity and cognitive function. This study examines these network changes compared to healthy individuals, aiming to improve understanding of the epileptogenic network beyond the traditional focus on the epileptogenic zone. The study addresses the challenges in diagnosing and defining these networks, which are crucial in managing drug-resistant focal epilepsies. The study uses noninvasive methods to analyze brain networks by reconstructing EEG-derived functional relationships and structural brain region connections. These reconstructions involve assessing functional connectomes from EEG data and structural connectomes using brain thickness covariance from MRI scans. This approach integrates routine clinical MRI with advanced simulations to test and validate hypotheses about the epileptogenic network. Participants undergo one-time assessments including MRI and resting state EEG recordings, along with neuropsychological evaluations to understand cognitive function. The primary outcome measure is identifying regional changes in functional connectivity from these data. The study includes patients aged 6 to 65 years with confirmed focal or generalized epilepsy and monitors their brain network alterations compared to healthy controls. This observational study helps deepen knowledge about brain network involvement in epilepsy and its impact on cognition.