Active clinical trials for "Brain Diseases"

Perinatal asphyxia is common cause of acquired neonatal brain injury in neonates associated with hypoxic-ischemic encephalopathy, leading to long-term neurologic complication or death. In 2000, the neonatal mortality rate in Egypt was found to be 25 per 1000 live birth. In this survey, hypoxic ischemic encephalopathy accounts for 18% of neonatal mortality and is the second most common cause of neonatal death.

Since 2017, a revolution began in the departments of nuclear medicine, with the routine use of gamma-cameras with semiconductor. These gamma-cameras (which obtained the CE-marking in 2016), offer a technological breakthrough by providing an additional information. They allow "to quantify" for the 1st time in clinical routine conditions, the quantity of radioactivity, by means of a "SUVspect", in a volume of interest, while respecting the recommendations of best practice of the learned societies of French nuclear medicine (SFMN), European (EANM) and American (SNM), without injection of tracer nor acquisition or additional irradiation. The SUVspect is therefore an indicator of the quantity of tracer in a given volume of acquisition. Until now, the interpretation criteria of scintigraphies are based on the homogeneity of distribution of a tracer in the explored organ (for single organs such as the heart or the thyroid, for example) or in the asymmetry of distribution of the tracer (for the double organs, such as the kidney or the joints). This new gamma-camera allows to study the distribution of the radio-tracers in "list" mode, allowing to retrospectively reconstruct the images in various ways (for example, by modifying the size of the matrix of acquisition, the energy windows, the time of acquisition). Therefore, we can simulate and propose modifications in current procedures. Every patient referred to our department of nuclear medicine to undergo a scintigraphy with a tracer of nuclear medicine (with a marketing authorization) can, while benefiting from an examination by this gamma-camera, to be the object of this study, and to profit from this additional information. So, without changing the diagnosis or the usual care, we wish to take advantage of this additional information to improve the criteria of interpretation of our examinations. This possibility being new, there is no available bibliography (our department is the 5th department of nuclear medicine in Europe to equip itself with this large field-of-view gamma-camera CZT, the DNM 670, made by General Electric), while 2961 articles speak about the SUVmax (in PET) in Pubmed.

As a common white matter (WM) disease in preterm neonates, punctate white matter lesion (PWML) frequently leads to the abnormalities of brain development (e.g. the motor, visual and auditory disorders), even to cerebral palsy (CP) and amblyopia during childhood. However, it is lack of certain methods in identifying the prognosis of PWML. Through using various advanced MRI techniques, neuro-behavioral and visual assessments, a multicenter longitudinal study would be conducted to follow-up the PWML neonates with varying spatial-position and degree lesions. Through tracking the variations in WM microstructures from neonate period to childhood (2 years old and 3 years old), this study aims to explore (1) the potential relations between varying PWMLs and motor and visual disorders (2) the relations between WM MRI-metrics and neurodevelopmental assessment results, and thus determine the early biomarkers to identify CP and amblyopia.

This is a a study to identify inherited disease genes. The study will use molecular techniques to map genetic diseases using techniques such as Affymetrix SNP chips. The powerful combination of the information generated by the Human Genome Project and technical advances such as microarrays enables attempts to identify genes responsible for inherited disorders more possible than ever before. Starting with even modest pedigrees of only a few individuals, or even single individuals, it is possible to identify the gene(s) involved. It is proposed to collect up to 20 ml of peripheral blood and/or buccal cell samples from subjects and relevant family members. Currently the following disorders are approved for investigation. The current list of disorders: Aarskog-Scott syndrome, Café-au-Lait spots, Cerebral cavernous malformation, delXp, del2q, del10p, del11q, del12p, del13q, del14q, del16q, del17q, del18q, del Xp21, Choreoathetosis, Congenital Vertical Talus (CVT), Clubfoot, Tarsal coalition and other congenital limb deformities, Cystic Fibrosis (CF)-like disease, Desbuquois syndrome, Droopy Eyelid syndrome (Ptosis), Fanconi-Bickel syndrome (FBS), FENIB (familial encephalopathy with neuroserpin inclusion bodies), FG syndrome, Idiopathic generalised epilepsy (IGE), Renpenning syndrome, transient neonatal diabetes with 6q UPD, translocation (13;14), translocation (3;8), translocation (2;18), Uncharacterized familial dementia and X-linked mental retardation (XLMR).

Neonatal mortality remains unacceptably high. Globally, the majority of mothers now deliver in health facilities in low resource settings where quality of newborn care is poor. Health systems strengthening through digitial quality improvement systems, such as the Neotree, are a potential solution. The overarching aim of this study is to complete the co-development of NeoTree-gamma with key functionalities configured, operationalised, tested and ready for large scale roll out across low resource settings. Specific study objectives are as follows: To further develop and test the NeoTree at tertiary facilities in Malawi and Zimbabwe To investigate HCPs and parent/carer view of the NeoTree, including how acceptable and usable HCWs find the app, and potential barriers and enablers to implementing/using it in practice. To collect outcome data for newborns from representative sites where NeoTree is not implemented. To test the clinical validity of key NeoTree diagnostic algorithms, e.g. neonatal sepsis and hypoxic ischaemic encephalopathy (HIE) against gold standard or best available standard diagnoses. To add dashboards and data linkage to the functionality of the NeoTree To develop and test proof of concept for communicating daily electronic medical records (EMR) using NeoTree To initiate a multi-country network of newborn health care workers, policy makers and academics. To estimate cost of implementing NeoTree at all sites and potential costs at scale

SUSAC's Syndrome (SS) is characterized by the clinical triad of encephalopathy, hearing loss, and retinal artery branch occlusions. Since the first description of SS in 1979, hundreds of patients with SS, mostly young women, have been reported. However, comprehensive epidemiological, clinical and etiological features of SS have never been specifically addressed so far. The objective of this study is to characterize the epidemiological, clinical, and etiological features of SUSAC's Syndrome. In this aim, the investigators will constitute a national clinical-based cohort including all SS cases retrospectively reported in France since the last 20 years and all new cases prospectively observed. French Society of Neurology, Ophthalmology and Internal Medicine will be asked to collaborate. Every case will be reviewed by an expert comity of internists, neurologists and neuroradiologists to validate the diagnosis. The exhaustive and systematic analysis of each case will help to better define different aspects of the disease such as the incidence and prevalence, the clinical presentation, the diagnostic modalities and the impact of treatments. Diffusion tensor magnetic resonance imaging of the brain will be obtained to more carefully study the cerebral microvasculopathy of the disease. Serum, cerebrospinal fluid, and DNA samples from each patient will also be collected to study potential autoimmune, thrombotic and infectious markers.

Infection with SARS-CoV-2 or severe acute respiratory syndrome coronarvirus type 2 was highlighted in December 2019 in the city of Wuhan in China, responsible for an pandemic evolution since March 11, 2020. The infection affects all ages of life, although affecting children in a very small proportion of cases. The typical presentation of the disease combines fever (98%), cough (76%), myalgia and asthenia (18%) as well as leukopenia (25%) and lymphopenia (63%). Upper airway involvement rare. The main clinical presentation requiring hospitalization of infected patients is that of atypical pneumonia which may require critical care management (27%), and progress to an acute respiratory distress syndrome (67%) involving life-threatening conditions in almost 25% of patients diagnosed with SARS-CoV-2 infection. Other organ damage have been reported, mainly concerning kidney damage (29%) which may require renal replacement therapy in approximately 17% of patients. Neurological damage has been very rarely studied, yet reported in 36% of cases in a study including patients of varying severity. Finally, the mortality associated with this emerging virus is high in patients for whom critical care management is necessary, reported in 62% of patients. We therefore propose a prospective observational study which aim at reporting the prevalence of acute encephalopathy at initial management in Critical/Intensive care or Neurocritical care , to report its morbidity and mortality and to identify prognostic factors.

Sepsis-associated encephalopathy (SAE), is one of the most common organ dysfunction during the acute phase in sepsis and septic shock. Electroencephalogram (EEG) and auditory evoked potentials (AEPs), which reflect different aspects of brain function, are the most commonly used neurophysiological indices to detect acute brain dysfunction in critically ill patients including sepsis and septic shock. AEPs show the systemic responsiveness of the central nervous to auditory stimuli, so they can be considered a direct measure of brain responsiveness. Mismatch negativity (MMN) is a change-specific component of ERPs, which elicited by a deviant stimulus occurring in a sequence of repetitive stimuli. This component is thought to represent the automatic and unconscious detection of acoustic changes which requires good perceptual discriminative capacity and iconic memory. The peaks of MMN appear at 100 ~ 250 ms from deviant stimulus onset; with increasing magnitude of stimulus change, the peak latency of MMN was shortened and the amplitude increased. Since MMN can be elicited even in the absence of attention, subjects do not need to actively participate. The MMN has been extensively demonstrated to be used in the prediction of awakening in comatose patients for various reasons, and also has been reported to predict awakening in deeply sedated critically ill patients recently. However, it remains unclear whether SAE affects MMN in amplitude and latency that reflects cognitive processing of the auditory information. Patients with sepsis and septic shock who met the inclusion criteria were screened daily on the CAM-ICU scale, and those with positive CAM-ICU were diagnosed with SAE.All patients were tested for event-evoked potentials on Day 1 and Day 3 after inclusion and were followed up to Day 28 after discharge. The investigators intend to observe the dynamic change of MMN amplitude and latency between SAE and non-SAE groups. Logic regression analysis was used to determine whether the change of MMN was a predictor of SAE.

The project aims at designing a machine learning solution able to recognize characteristics signals patterns of brain damages in full term babies born within a context of Hypoxic Ischemic Encephalopathy (HIE)

The cerebrovascular autoregulation (AR) is impaired in patients with hepatic encephalopathy. Patients with the indication to liver transplantation mostly have mild to severe hepatic encephalopathy. Transplantation should recover the encephalopathy. The aim of the study is to investigate the AR during liver transplantation, with the questions if the AR is impaired at the beginning of surgery and if there are changes in AR. For follow up the AR will be measured at the first days after transplantation at the ICU.