Active clinical trials for "Brain Diseases"

Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a panel of target sequencing that aims to identify 126 treatable severe early onset genetic diseases at birth caused by 361 genes. The list of diseases has been established in close collaboration with the Paediatricians of the University Hospital in Liege. The investigators use dedicated dried blood spots collected between the first day and 28 days of life of babies, after a consent sign by parents.

The purpose of the research is to determine if the Hepatitis B vaccine after birth provides enough protection after cooling for Hypoxic Ischemic Encephalopathy (HIE). To do this, Hepatitis B titers (blood sample) would be taken before, during, and after administering of the Hepatitis B vaccine series to measure efficacy of the vaccine.

Inflammatory bowel diseases (IBD), including Crohn's disease and ulcerative colitis, are characterized by extraintestinal manifestations in approximately 30% of cases. Only 3% of these manifestations are neurological diseases, but they have serious consequences for the patient's health, and often constitute a significant diagnostic problem. Neurological symptoms may precede the appearance of IBD symptoms by up to several years. According to the available literature, symptoms of neurological diseases are more common in men and are usually diagnosed after the diagnosis of IBD, but they are rarely associated with exacerbations of the disease. The most common of these are demyelinating diseases such as multiple sclerosis. The very application of treatment in patients with IBD may also play an important role in the development of neurological diseases of various types and pathogenesis. The use of immunosuppressants and therapy with biological drugs may lead to the impairment of the central nervous system due to changes in the white matter of the brain, a predisposition to opportunistic infections, John Cunningham virus infections and the resulting progressive multifocal leukoencephalopathy (PML). So far, the literature describes the occurrence of many neurological diseases in patients with coexisting IBD, caused by side effects of the treatment itself, cerebral vascular diseases or caused by immune disorders. Cases of Wernicke encephalopathy caused by vitamin B1 deficiency have also been reported. A broad term that defines symptoms of not only neurological diseases is encephalopathy. By definition, it means damage or disease that affects the brain. It occurs when the way the brain works is changed due to a change in the body. These changes cause changes in the psyche, causing confusion and a change in typical behavior. Encephalopathy is not a single disease entity but a disorder with complex pathophysiology. It is a serious disease that, if untreated (or rather its underlying cause), leads to permanent brain damage. Due to the variety of symptoms and their variable severity, the diagnosis of encephalopathy often escapes the team of chronically ill patients. Patients with IBD are such a group - young patients whose severe, incurable disease changes their philosophy of life. The influence of IBD on encephalopathy symptoms has not been evaluated so far. This study is designed to answer the question of whether encephalopathy occurs in people with IBD. By extrapolating the incidence of encephalopathy in people with another immunologically mediated disease, Hashimoto's disease, we hypothesized that such a disorder could also occur in people with IBD. We assume that autoimmune mechanisms underlying the disease will contribute to the etiopathogenesis of the phenomenon, similarly to thyroid disease. Additionally, with increasing incidence in the scientific literature, it is stated that in about 30% of cases, IBD symptoms overlap with functional bowel diseases such as Irritable Bowel Syndrome (IBS), so we plan, in the questionnaire presented to patients, to include questions regarding the coexistence of these disorder as described in the Roman IV Criteria.

The purpose of the study is to determine the effects of a novel, personalized, tactile cueing system on gait automaticity. The researchers hypothesized that step-synchronized tactile cueing will reduce prefrontal cortex activity (improve automaticity) and improve gait variability (as well as gait speed). The researchers predict that improved automaticity with improved gait variability will be associated with increased activation of other than prefrontal cortical areas while walking (i.e., sensory-motor). To determine the effects of cueing, 60 participants with PD from will be randomized into one, of two, cueing interventions: 1) personalized, step-synchronized tactile cueing and 2) tactile cueing at fixed intervals as an active control group. In addition, the researchers will explore the feasibility and potential benefits of independent use of tactile cueing during a week in daily life for a future clinical trial. This project will characterize the cortical correlates of gait automaticity, the changes in gait automaticity with cueing in people with PD, and how these changes translate to improvement in gait and turning. The long-term goal is to unravel the mechanisms of impaired gait automaticity in PD.

Sepsis associated encephalopathy (SAE) is a poorly understood acute cerebral dysfunction that frequently appears in the setting of sepsis induced systemic inflammation. In fact, altered mentation is recognized as an independent predictor of death and poor outcomes in patients with sepsis. SAE may be manifested by a number of symptoms characterized by a change in baseline behavior, attention, alertness, cognition, or executive functioning. It occurs in the absence of direct Central Nervous System (CNS) infection, and the exact pathophysiology is of SAE is unknown, but theoretically seems to encompass a constellation of mechanisms such as impairment of the blood brain barrier (BBB), endothelial dysfunction, alteration in cerebral blood flow and neurotransmission, circulating inflammatory mediators, cellular hypoxia, and metabolic disturbances, that ultimately result in neuronal dysfunction and cell death. SAE is characterized by an altered mental status (AMS) that ranges from delirium to coma, and can lead to long-term cognitive impairment. SAE may appear early in the course of sepsis, and is often underestimated as an independent factor of mortality, yet the pathophysiology of SAE remains unknown, and there is a lack of specific investigations available to clinicians. Studies have evaluated biomarkers as prognostic tools. The Investigator propose to measure neuron specific enolase (NSE), S-100B, glial fibrillary acidic protein (GFAP), ubiquitin C-terminal hydrolase L1 (UCH-L1), Tau protein, Copeptin, spectrin breakdown products (SBDP 145, SBDP150), αII-spectrin N-terminal fragment (SNTF), neurofilament light and heavy chains (NF-L, NF-H), myelin basic protein (MBP), secretoneurin (SN), and other peptide levels in the serum of sepsis patients who develop altered mental status, to evaluate the kinetics of said biomarkers for 72 hours. The Investigator will monitor the course of the patients' hospitalization to determine whether there are biomarker correlates with survival and outcomes, including neurologic impairment. Finally, this investigation may provide a mechanistic pathway that defines the development of AMS in septic patients.

The TIME study is a randomized, controlled trial to evaluate impact on early measures of neurodevelopment and the safety profile of therapeutic hypothermia in term neonates with Mild Hypoxic-Ischemic Encephalopathy who are < 6 hours of age. Neurodevelopmental outcome will be assessed at 12-14 months of age. The study will enroll 68 neonates randomized to therapeutic hypothermia or normothermia across 5 centers in California.

Age related focal epilepsies in children encompasses, according to the ILAE criteria, benign epilepsy with centro temporal spikes (BECTS), atypical benign partial epilepsy (ABPE) and epileptic encephalopathy with continuous spike and waves during sleep (ECSWS). These non structural epilepsies are associated with interictal sleep spike and waves activated by sleep. Moreover, high prevalence of learning disorders occur in children with age related epilepsies. A correlation is suspected between learning disorders and sleep activation of spike and waves. The investigators suppose that learning dysfunction is linked to loss of information during sleep of epileptic children, unlike for control patients. As sleep allows memory consolidation of words learned during wakefulness, an epileptic activity during sleep may disrupt this consolidation, leading to a loss of information. Hypothesis: the investigators hypothesize a disruption of memory consolidation after one night in children affected with ABPE and ECSWS (severe group) compared to memory consolidation in children affected with BECTS (benign group), and control group. Primary purpose: To demonstrate that the deficit of delayed recall in 15 word learning test after one night is higher for the "severe group", compared to the "benign group" and the control group. Secondary purposes: to study the evolution over time of memory consolidation to evaluate the correlation of the deficit of delayed recall with executive dysfunction, clinical factors of epilepsy, neurophysiological factors of epilepsy, and sleep architecture

The Multidisciplinary Expert System for the Assessment & Management of Complex Brain Disorders (MES-CoBraD) is an interdisciplinary project combining Real-World Data (RWD) from multiple clinical and consumer sources through comprehensive, cost-efficient, and fast protocols towards improving diagnostic accuracy and therapeutic outcomes in people with Complex Brain Disorders (CoBraD), as reflected in Neurocognitive (Dementia), Sleep, and Seizure (Epilepsy) disorders and their interdependence. It brings together internationally recognized experts in medicine, engineering, computer science, social health science, law, and marketing and communication from across Europe, and combines clinical information and scientific research in CoBraD with technical innovation in secure data-sharing platforms, artificial intelligence algorithms, and expert systems of precision and personalized care, with a primary focus on improving the quality of life of patients, their caregivers, and the society at large. It leverages RWD from diverse CoBraD populations across cultural, socioeconomic, educational, and health system backgrounds, with special attention on including vulnerable populations and minorities in an equitable manner and engaging key stakeholders to maximize project impact.

The underlying pathophysiology following traumatic brain injury (TBI) in how different neurodegenerative conditions are developed are still unknown. Different neuroinflammatory and neurodegenerative pathways have been suggested. The goal of this study is to follow-up patients that have been treated for TBI at the neurosurgical department about 10-15 years after their initial injury, in order to analyze fluid biomarkers of inflammation, injury and degeneration and associate these with structural imaging and long-term functional outcome. The investigators aim to invite about 100 patients back and perform advanced magnetic resonance imaging protocols, sample cerebrospinal fluid and blood for different bio- and inflammatory markers, study genetic modifications and associate it with outcomes being assessed through questionnaires. The investigators' hypothesis is that patients with ongoing inflammatory processes will present with more fluid biomarkers of neurodegeneration, worse clinical presentation and also more structural/atrophic signs on imaging. This will result in an increased understanding of the interplay between neuroinflammation and neurodegeneration in chronic TBI, as well as a panel of tentative biomarkers that could be used to assess level of disability following TBI and chronic traumatic encephalopathy (CTE).

The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle Disease International Registry (CMDIR) to acquire necessary data for adverse event calculations (intake survey and medical records curation). To support this study and become a participant, we ask that you register in the CMDIR. You can do this by visiting www.cmdir.org. There is no travel required. The registry includes affected individuals with congenital muscular dystrophy, congenital myopathy, and congenital myasthenic syndrome and registers through the late onset spectrum for these disease groups. The CMDIR was created to identify the global congenital muscle disease population for the purpose of raising awareness, standards of care, clinical trials and in the future a treatment or cure. Simply put, we will not be successful in finding a treatment or cure unless we know who the affected individuals are, what the diagnosis is and how the disease is affecting the individual. Registering in the CMDIR means that you will enter demographic information and complete an intake survey. We would then ask that you provide records regarding the diagnosis and treatment of CMD, including genetic testing, muscle biopsy, pulmonary function testing, sleep studies, clinic visit notes, and hospital discharge summaries. Study hypothesis: To use patient and proxy reported survey answers and medical reports to build a longitudinal care and outcomes database across the congenital muscle diseases. To generate congenital muscle disease subtype specific adverse event rates and correlate with key care parameters.