Active clinical trials for "Brain Diseases"

Investigators at Boston Children's Hospital are conducting research in order to better understand the genetic factors which may contribute to disorders related to epilepsy. These findings may help explain the broad spectrum of clinical characteristics and outcomes seen in people with epilepsy.

This is a multi-center natural history study of Mitochondrial NeurogastroIntestinal Encephalopathy (MNGIE). Patients will be followed over time to assess clinical symptoms. The investigators hope to learn more about the disease of MNGIE as well as develop useful measures of disease status for use in future clinical trials. Additional clinical centers will be listed as they become available.

Dr. Elliott Sherr and his collaborators at University of California, San Francisco (UCSF) are studying the genetic causes of disorders of cognition and epilepsy, in particular disorders of brain development that affect the corpus callosum, such as Aicardi syndrome, as well as two additional brain malformations, polymicrogyria and Dandy-Walker malformation. The goal of the investigators' research is to use a better understanding of the underlying genetic causes as a foundation to develop better treatments for these groups of patients.

Early childhood is one of the periods of life in which the risk to develop epilepsy is highest. Besides, genetic causes are much more common in the young. Recently, an ever-increasing amount of genes has been found to be involved in numerous early-onset epilepsies. Thanks to next-generation sequencing (NGS), a diagnosis can now be reached in close to 50% of children with epilepsy and developmental delay. This, in turn, has led to the successful application of the concept of individualized treatment in a growing number of children with epilepsy. Genetic investigations have thus been progressively included in the routine work-up of children with early-onset epilepsies throughout the world, mostly in high-income countries up to now. As a result of a scientific collaboration between pediatric neurology divisions at University Hospitals Geneva (HUG), Switzerland, and Children's Hospital 2 in Ho Chi Minh City (HCMC), Viet Nam, genetic testing of children with early-onset epilepsies followed at the pediatric neurology division, Children's Hospital 2 started at the genetics laboratory of the Vietnam National University in 2017. Aims: Our project aims at establishing the proportion of patients in whom a causal genetic finding can be identified, in a prospective cohort of children with Developmental and Epileptic Encephalopathies (DEE) followed at Children's Hospital 2 (ND2). We also aim at identifying the percentage of these children in whom this approach would change current management. Methods: A series of children diagnosed with DEE and followed at ND2 Hospital, enrolled consecutively. Exome sequencing was applied to all, with biostatistical analyses of a panel of 671 genes involved in epilepsies and developmental disorders performed in parallel at Ho Chi Minh City Vietnam National University and Geneva Genetic Medicine Division. Sanger sequencing confirmation of potentially causal variants in patients, and in parents for familial segregation. Comparison of Vietnamese and Swiss genetic findings, and multidisciplinary discussions in formal Genome Boards. Additional genetic investigations, if deemed necessary in Genome Board sessions. Clinical management adapted to genetic findings wherever applicable, and follow-up according to standard practice. One-hundred-and-fifty patients are expected to participate during the 3-year study period.

The goal of this observational study is to identify early signs of poor neurodevelopmental outcome by performing specific neurological, neurophysiological and neuroimaging assessments in newborns with hypoxic-ischemic encephalopathy treated with therapeutic hypothermia. The main questions it aims to answer are: Identify patients at risk of neuromotor, cognitive and epileptic sequelae Plan early rehabilitation programs and future trials on early neuroprotection in infant at risk of neurodevelopmental disability Participants will be involved in serial assessment: Before and after therapeutic hypothermia and before discharge: neurological assessment, according to the modified Sarna (t) score, Thompson's score and Hammersmith Neonatal Neurological Examination (HNNE); General Movement Assessment Amplitude integrated electroencephalogram (aEEG) within 6 hours of life, for 6 hours. Neonatal Cranial Ultrasonography within 6 hours of life, in the third and seventh day of life. Brain magnetic resonance imaging between 7 and 14 days. Electroencephalogram (EEG) within 7 days. After discharge study population will perform: EEG between 3 and 6 months. Neurological assessment using Hammersmith Infant Neurological Examination (HINE) at 3-6-9-12 months. General Movement Assessment at 3 months. Neurodevelopmental assessment using the Griffiths Mental Development Scales at 24 months. Cognitive assessment using the Wechsler Preschool and Primary Scale of Intelligence between 36 and 41 months. Motor performance assessment using Movement ABC between 42 and 48 months.

Sepsis-associated brain dysfunction (SABD)with increased intracranial pressure is a complex pathology that can lead to unfavourable outcome. Although direct measurement of intracranial pressure using an intra-ventricular catheter remains the gold standard, it is burdened with potential serious complications due to its invasiveness. Ultrasonic measurement of optic nerve sheath diameter (ONSD) is a non-invasive method for ICP monitoring. Screening for SABD is crucial for early diagnosis and management, measurement of ONSD can detect elevated intracranial pressure in septic patients. Intracranial hypertension in septic patients might be a sign of SABD. Using ONSD for SABD screening requires further research. So, we hypothesized that ONSD could be used as an objective screening tool to predict and early diagnose SABD in adult septic patients.

Prediction of hepatic encephalopathy after insertion of a transjugular intrahepatic portosystemic stent shunt (post-TIPS HE) are critical for patient selection prior to TIPS insertion, and a currently unmet, clinically highly relevant need. In this prospective multicenter observational cohort study, the investigators aim to evaluate the ability of Stroop EncephalApp and the simplified Animal Naming Test (S-ANT1) in comparison to the goldstandard PHES to predict the occurence of post-TIPS HE in patients with decompensated liver cirrhosis. Moreover, secondary aims of this study include the detection of potential blood based biomarkers for prediction of post-TIPS HE and the predictive value of frailty and quality of life/sleep prior to TIPS insertion.

The NSR-GENE study is a longitudinal cohort study of approximately 300 parent-child trios from the Neonatal Seizure Registry and participating site outpatient clinics that aims to evaluate whether and how genes alter the risk of post-neonatal epilepsy among children with acute provoked neonatal seizures. The researchers aim to develop prediction rules to stratify neonates into low, medium, and high risk for post-neonatal epilepsy based on clinical, electroencephalogram (EEG), magnetic resonance imaging (MRI), and genetic risk factors.

Background: - Inflammation is how the body reacts to infection or injury. Infections or inflammation in the brain and nerves can be serious. There aren t always good tests to detect this. Researchers want to learn more about how diseases affect the brain and nerves to develop better tests and treatments. Objective: - To learn more about how inflammation and infections hurt the brain and nervous system. Eligibility: - People at least 2 years old with a diagnosis or suspected diagnosis of nervous system infection or inflammation. Design: For some participants, a clinician outside of NIH will collect blood, tissue, and other samples. These will be sent to NIH and analyzed. Other participants will have several visits to NIH. Children may not have all these tests. Participants will have: Medical history. Physical and neurological exam. Blood and urine samples collected. Saliva collected. They will chew on a piece of sterile cotton for one minute. Magnetic resonance imaging (MRI) scan. The scanner is a metal cylinder in a strong magnetic field. Participants will lie on a table that slides in and out of the cylinder. Participants will get a contrast agent through an intravenous (IV) catheter during the MRI. A needle will be used to guide a thin plastic tube (catheter) into an arm vein. Lumbar puncture. Skin will be numbed and a needle will be inserted into the space between the bones in the back. Fluid will be removed. Some participants may have optional study procedures. These may include eye tests, memory and thinking testing, tests with electrodes on the head, or skin biopsy.

Cirrhosis registry of consecutive adult consenting patients hospitalized with liver cirrhosis in the tertiary liver unit