Active clinical trials for "Brain Diseases"

Urea cycle disorders (UCD) are a group of rare inherited metabolism disorders. Infants and children with UCD commonly experience episodes of vomiting, lethargy, and coma. The purpose of this study is to perform a long-term analysis of a large group of individuals with various UCDs. The study will focus on the natural history, disease progression, treatment, and outcome of individuals with UCD.

Hepatic encephalopathy (HE) corresponds to the neurological or the neuropsychological symptoms caused by an acute or chronic liver disease and/or porto-systemic shunt. Many patients present neurological symptoms even if their liver disease is stabilized. Furthermore, HE is associated with an altered quality of life and an increased mortality. Its incidence is high with 30 to 80% of cirrhotic patients that will display according to retained diagnostic criteria. HE symptoms are going from subtle neuropsychological abnormalities detected only on neuropsychological testing, minimal HE, to altered consciousness, overt HE. Recently, the therapeutic armamentarium has increased with now several drugs (rifaximin, ammonia lowering agents) that are able to prevent new bouts of HE. Unfortunately, the diagnosis of minimal HE is difficult and no gold-standard is available. None of the proposed test is rapid and easily performed at bedside. Recently, different studies suggest the potential interest of the study of the ocular movements in HE. Abnormalities in ocular saccades could be an early predictor of cortical impairment. In a pilot feasibility study using an eye-tracker, we could show that cirrhotic patients with minimal HE had, compared to healthy controls, increased latencies, decreased speed of voluntary and reflex saccades, more errors in anti-saccades, more anticipations saccades and more difficulties to fix the target. Our hypothesis was that the use of the eye-tracker will enable the diagnosis of minimal HE by studying the characteristics of saccades and anti-saccades. Since no gold-standard is available for the diagnosis of minimal HE, we will use the conclusion of an adjudication committee formed by 2 experts. Their clinical judgment will take into account the results of medical history, clinical examination, neuropsychological testing, PHES, Critical Flicker Frequency test (CFF), ammonemia levels, EEG and brain MRI with spectroscopy.

Electrical activity emerges in the third trimester of pregnancy, plays an important role in the construction of cortical maps, and is impaired in patients with severe early epileptic encephalopathies (EOEE). EOEE are rare and severe epileptic syndromes characterized by epilepsy that begins within the first three months of life and is associated with rapid deterioration of motor, cognitive and behavioral skills. There is a genetic basis for the EOEE. Together with other laboratories, the investigators have identified de novo pathogenic variants in the KCNQ2 gene encoding the Kv7.2 subunit of the Kv7 / M potassium channel, a channel known to control neuronal excitability in the brain and spinal cord. via the current M (IM). Pathogenic variants of the KCNQ2 gene represent the main cause of EOEE and the term KCNQ2-related epileptic encephalopathy (KCNQ2-REE) is now used to define this condition. KCNQ2-REE patients have a remarkably homogeneous phenotype at the start, with epilepsy that begins in the first days after birth, seizures that result in tonic muscle spasms that last from 1 to 10 seconds, and an interictal EEG called "suppression-burst". "That is, paroxysmal bursts of activity interspersed with periods of electrical silence. In this group, more than 50% of the patients present a remission of the epilepsy and a quasi-normalization of the EEG which can occur a few weeks to several months after the onset of the seizures. Despite this positive evolution in terms of seizures, the developmental progression is abnormal and the phenotype is severe with an absence of language, autistic behavior and a subsequent development of motor disorders such as diplegia, spasticity, ataxia or dystonia. The ambition of this project is to increase knowledge of epileptic encephalopathies linked to KCNQ2 at the clinical and molecular levels, to decipher the pathophysiological mechanisms and to propose therapeutic strategies. This project aims to better describe the clinical, EEG, imaging, developmental and long-term follow-up characteristics of patients carrying the KCNQ2 mutation identified in the laboratory.

The aim of our study is to evaluate the feasibility of applying transcutaneous CO2 monitoring (tcPCO2) in neonates receiving therapeutic hypothermia and to quantify the agreement between tcPCO2 and PCO2 in this population with or without respiratory support. Although, transcutaneous measurement of CO2 tension is the most commonly used non-invasive CO2 monitoring system in neonatal intensive care, to date tcPCO2 technique has not been evaluated systematically or used routinely in the intensive care of infants with neonatal encephalopathy receiving hypothermia treatment.

XPRESSE is a multicenter observational prospective biomarker study in which critically ill patients with MRI-based PRES diagnosis will have copeptin kinetics from a daily blood sample for 6 days and a 3-month follow-up. This study aims to investigate the relationship between copeptin and PRES in order to establish the optimal therapeutic time window for vaptan treatment against PRES. Data collection using an electronic case report form will include demographic data, medical history and data related to PRES: onset modalities and date of symptoms control, radiological features of PRES, biological investigations, results of etiological investigations and therapeutic management (e.g., anticonvulsants, antihypertensive drugs, supportive treatments). Outcomes will include modified Rankin scale score and Glasgow Outcome Scale score at ICU discharge, 3-month modified Rankin Scale score and 3-month mortality.

A phase 1 study investigating the tolerability and pharmacokinetics of caffeine citrate in neonates with hypoxic ischemic encephalopathy receiving therapeutic hypothermia. This study is an essential first step to develop caffeine as a kidney protective medication in this in this vulnerable group of newborns.

A randomized controlled study was conducted to explore the efficacy of early transcranial direct current stimulation (tDCS) and repetitive transcranial magnetic stimulation (rTMS) to promote wakefulness in patients with disorder of consciousness (DOC). In order to improve the prognosis of DOC patients with nontraumatic brain injury, we compared the effects of tDCS and rTMS on clinical behavior and neurophysiological performance, and selected a wake-up technique that could improve the prognosis of DOC patients with nontraumatic brain injury as early as possible, so as to reduce the pain of patients and their loved ones, and to reduce the economic burden of society and families.

There is an urgent need for the development of digital progression biomakers, which are sensitive to detect small, but potentially clinically relevant changes in the disease course. Digital biomarkers are based on (i) continuously collected real-time data, during the patient's day to day activities; and (ii) task-based assessment. In this study the investigators are interested in developing algorithms for the detection of disease progression in PSP patients in key clinical parameters: bradykinesia, gait, rising from a chair and falls, based on (i) sensor data obtained by means of passive monitoring during daily living; and (ii) sensor data collected during the Virtual Motor Exam.

The goal of this single centre observational study is to use near-infrared spectroscopy (NIRS) monitoring to investigate cerebral oxygenation in two groups of newborn infants who are at high risk of brain injury. The NIRS monitor used in this study will be the Masimo O3 regional oximeter with neonatal sensors. Near-infrared spectroscopy (NIRS) monitoring uses near-infrared light to measure oxygen levels in the brain tissue (cerebral oxygenation). It provides information about blood flow to the brain and the balance between oxygen supply and demand in the brain tissue. It is non-invasive, safe and used routinely to monitor term and premature babies in the neonatal intensive care unit (NICU). This study will recruit two groups of infants admitted to the NICU who are at risk of brain injury in the newborn period, namely: Term and near-term babies who are undergoing cooling treatment (therapeutic hypothermia) for moderate to severe hypoxic ischaemic encephalopathy (HIE). Preterm babies who are born extremely prematurely (before 28 weeks of pregnancy). In the term/near-term group, the primary aims of the study are: To investigate if cerebral oxygenation during and after cooling treatment relates to markers of brain injury detected on detailed brain scans (MRI and MRS scans). To describe any changes in cerebral oxygenation which occur during and after seizures (fits) in babies undergoing cooling treatment. In the preterm group, the primary aims of the study are: To investigate if any changes in cerebral oxygenation occurring during skin-to-skin care are different in premature babies with brain injury (bleeding or cysts in the brain seen on ultrasound scan) compared to babies without these changes. To investigate if cerebral oxygenation at 36 weeks corrected gestational age differs in babies with bronchopulmonary dysplasia (BDP, a chronic lung disease of prematurity) compared to babies without BPD.

Hepatic encephalopathy (HE) is a common complication of cirrhosis, which seriously damages the life quality of patients. As the disease progresses, 50-80% of patients with cirrhosis develop HE. Minimal hepatic encephalopathy (MHE) is a manifestation of HE, in which the patient usually has no obvious clinical symptoms and can only be detected by neuropsychological testing. Early identification and timely treatment are the keys to improve the prognosis of HE, and the diagnosis of MHE are the priority in the process of the disease intervention. Guidelines in many countries suggest that MHE does not recommend routine treatment. However, patients with cirrhosis usually have complex clinical complications, so whether timely treatment should be taken remains to be explored. The purpose of this study is to investigate the incidence of MHE in cirrhotic patients, and to establish a real-world cohort for further study on drug therapy and efficacy evaluation.