View clinical trials related to Nerve Degeneration.
Filter by:Excessive daytime sleepiness which still remains after an effective treatment with nocturnal ventilotherapy or with other specific treatments (positional therapy, oro-mandibular devices) in patients with obstructive sleep apnea syndrome has a prevalence of 55% of treated cases, representing a notable theme of clinical and research interest. In recent years there have been several studies on the use of wakefulness-promoting drugs generally prescribed in patients with narcolepsy, in this disorder with promising results. Right in consideration of the forthcoming approval of these drugs, it is important to find biomarkers able to predict which patients will develop daytime sleepiness resistant to ventilatory treatment. Several studies have highlighted the association between obstructive sleep apnea syndrome and the increase of cerebral amyloid beta deposits, concluding that apnoic disorder can be considered a risk factor for the development of cognitive impairment and Alzheimer';s disease. In this scenario, it would be useful to identify biological markers able to underline which clinical phenotypes of sleep apnea syndrome are more associated with residual excessive daytime sleepiness and/or cognitive impairment. In recent years several kits for the assay of biomarkers of neurodegeneration have been developed not only in CSF, but also in human serum. Among them, the most important are light chain neurofilaments (NFL), amyloid isoforms 40 and 42 (Ab40 and Ab42). Other biomarkers found in neurodegenerative diseases associated with excessive daytime sleepiness are orexin A (OXA) and histamine (HA). In this view, the aim of this study is to evaluate the role of biomarkers of neurodegeneration in characterizing disease severity and response to treatment of obstructive sleep apnea syndrome with residual excessive daytime sleepiness.
The purpose of this research study is to measure cerebrospinal fluid (CSF) clearance in subjects with and without high blood pressure. CSF cushions the brain from impact and carries waste products from the brain to the bloodstream. This process is known as clearance. Impaired removal of proteins from the aging brain causes their buildup and may contribute to an increased risk for Alzheimer's disease. It is also suspected that clearance may be related to the health of vessels carrying the blood throughout the brain. It is known that high blood pressure damages blood vessels and thus may impair clearance. In this project we will examine if having high blood pressure is related to impaired brain clearance and whether treating high blood pressure improves clearance and reduces buildup of Alzheimer's disease-related proteins. Participants will be asked to undergo a medical examination, testing of memory, brain imaging (both magnetic resonance and positron emission tomography, and spinal tap at the beginning of the study and 1 -2 years later.
The English version of the "Clinical Assessment of Dysphagia in Neurodegeneration" (CADN), represents a rapid and valid clinical assessment tool for dysphagia in neurodegenerative population. Currently, there is no validated tool in Italian specific for the clinical assessment of dysphagia in neurodegenerative disease with strong psychometric characteristics. The present study aims to translate and validate the Italian version of CADN in neurodegenerative population. Psychometric properties will be measured.
Rares diseases are a heterogeneous group of conditions which need important tools for diagnosis. The use of high-throughput sequencing is able to diagnose half of the patients. For the other part it is impossible to conclude due to the presence of variants of unknown significance (VOUS). Functional analysis are needed to bring strong argument to reclassify variants as pathogenic or benign. The main objective is to evaluate the diagnosis yield of this strategy.
Multiple sclerosis (MS) is a chronic disease of the central nervous system characterised by multi-focal inflammatory and demyelinating lesions disseminated in the brain and in the spinal cord. Impressive advancements in the treatment of the autoimmune component of the disease have been achieved during the last decades, leading to a drastic reduction of white matter lesion accumulation and relapse rate along the disease course. However, the development of treatments effective for preventing or delaying the neurodegenerative component of the disease, that underly disability accrual and progression of the disease, remains a major challenge. The development of novel therapeutic strategies for neuroprotection that target all patients with MS is a priority objective for research in the next years. The critical steps towards identifying treatments that prevent neuro-axonal damage include a deep understanding of the mechanisms underlying neurodegeneration and the development of reliable biomarkers for assessing the efficacy of emerging drugs and for accelerating their translation to clinical use. The team of Prof. Stankoff has pioneered an innovative imaging approach combining positron emission tomography and MRI, and succeeded in generating individual maps or key biological processes such as endogenous remyelination, neuroinflammation, or early damage preceding lesion formation. Using these approaches, it has been shown that these mechanisms were influencing disability worsening over the disease course, but the investigators still lack long term longitudinal studies for the validation of these advanced imaging metrics as prognosis markers. Recently, preliminary results have also suggested that a multimodal combination of advanced MRI sequences may have the potential to reproduce some PET results. In this project the investigators propose to unravel the predictive value of individual maps of tremyelination, neuroinflammation, and early tissue damage, on long term disability worsening and to develop a novel imaging approach that aims to capture remyelination of lesions, ongoing inflammation invisible on T1 and T2 MRI sequences (subacute/chronic active lesions) and to predict short-term future disease activity (identify prelesional areas), from a single multimodal MRI acquisition in patients with MS.
Neurodegeneration with brain iron accumulation (NBIA) represent a group of rare neurodevelopmental diseases, genetically as well as phenotypically heterogeneous. The diagnosis is based on brain MRI. It is also based on genetic testing. However overlaps exist between the different clinical presentations and the molecular diagnosis may be misinterpreted. Two main purposes must be addressed to get a better molecular diagnosis: on one hand reaching enough exhaustivity which may be performed with a larger gene panel and next generation sequencing; on the other hand, it is now necessary to validate or infirm the deleterious consequences of variants with the help of functional studies.
TIRCON-reg aims to - continue the provision of a global registry and natural history study for NBIA disorders - harmonize and cover existing national and single site registries - enable participation of countries and single sites that so far have no access to an NBIA registry - join forces in order to recruit sufficient numbers of patients - define the natural history of NBIA disorders - define the most appropriate outcome measures - inform the design and facilitate the conduction of clinical trials
In this study, the investigators aim to provide a deeper understanding of Parkinson's disease and find a biomarker of Parkinson's disease. This is done using imaging scans called Positron Emission tomography (PET), Single Photon Emission Computed Tomography (SPECT), and Magnetic Resonance Imaging (MRI). The findings will provide a deeper understanding of the brain changes in Parkinson's disease. More importantly, this study will help with the discovery and development of new medications aiming to delay progression of Parkinson's disease symptoms
In this study, the researchers aim to find a biomarker of PD. Using imaging scans called Positron Emission tomography (PET), Single Photon Emission Computed Tomography (SPECT), and Magnetic Resonance Imaging (MRI). The PET and SPECT scans use small amounts of radiation and specific compounds called tracers, to study chemical changes in the brain in a way not possible with any other procedure. The MRI uses magnetic fields to generate images of brain structure and function
This is a multi-center longitudinal study that consists of five cohorts: cognitive normal aging (CN), Subjective cognitive impairment (SCI), mild cognitive impairment (MCI), Alzheimer's disease (AD) and vascular cognitive impairment (VCI). The goals of this study are as follow: 1.To establish longitudinal cohort study database containing comprehensive epidemiological data, neuropsychological test data, laboratory parameters, image data and biological samples. 2. To determine the risk factors of AD and other dementias. 3. To explore the conversion rates from CN to SCI, MCI or AD and the risk factors as well as biomarkers for the progression from CN to SCI, MCI or AD. 4. To explore and validate blood, CSF, urine, imaging and other biomarkers for the early detection and progression of AD.