Active clinical trials for "Neurodegenerative Diseases"

Amyotrophic lateral sclerosis (ALS) is a progressive neuromuscular condition characterized by weakness, muscle wasting, fasciculations and increased reflexes. Depending on the site of onset, individuals with ALS progressively lose control of their skeletal muscles; bulbar or the extremities. As symptoms worsen and spread, muscle atrophy becomes apparent and upper motor neuron symptoms such as spasticity complicate gait (in lower limb involvement) and manual dexterity (in upper limb involvement). The patients progress to a state of profound disability and have great difficulty in communicating; some may even be entirely "locked in" to their bodies. The capacity for simple communication could greatly improve their quality of life. New technologies are giving people with disabilities alternate communication and control options. One such instrument is the EEG-based Brain-Computer Interface (BCI) which can provide both communication and control functions to those who have lost muscle control. By recording electroencephalographic (EEG) signals or brain waves from the scalp and then decoding them, the Wadsworth BCI allows people to make selections on a computer screen [i] In this study we will be investigating the feasibility of using EEG-based Brain-Computer Interface technology as a communication solution for individuals with ALS. The specific question addressed will be: Can individuals with ALS use the BCI for communication when they present with extreme loss of neuromuscular control and severe communication impairments? The goal of the project is to determine whether this device is a practical and realistic means for individuals with ALS to communicate. The study is intended to evaluate both the complexity of the system and the degree to which each participant will be able to communicate. Trials will consist of asking the subject to follow a series of simple instructions and complete certain tasks while using the BCI. This study design requires that the individual live in the Philadelphia region. Please contact the Wadsworth Center of the New York State Department of Health and State University of New York at Albany directly if you reside outside of this area.

Brain 18F-FDG PET (positron emission tomography) is recognised as having a good negative predictive value in the search for a neurodegenerative origin of cognitive disorders. Indeed, a ratio of 0.1 on the occurrence of worsening cognitive disorders has been reported in case of normal brain FDG PET. However, the risk of developing objective cognitive disorders in patients with no cognitive complaints is estimated at 8% per year and the risk of developing dementia in patients with mild cognitive disorders at 22% per year. Cerebral 18F-FDG PET is a prognostic factor for the occurrence of unusual clinical manifestations (MCI) or the conversion of MCI to Alzheimer's disease, but we do not really know the impact on the longer term occurrence of cognitive impairment in patients with normal cerebral 18F-FDG PET. Only a longitudinal study will allow us to really know the true negative predictive value of a normal 18F-FDG PET scan and the factors associated with a risk of dementia in these subjects. This will allow us to better understand the prognostic impact of a normal brain 18F-FDG PET scan and to identify a sub-population that remains at risk, including in the case of normal brain 18F-FDG PET.

The AETIONOMY project will generate a refined taxonomy and testable mechanisms underlying the derived stratification of patients.

Resting-state functional magnetic resonance imaging (RS-fMRI) has frequently been used to investigate local spontaneous brain activity in Parkinson's disease (PD) in a whole-brain, voxel-wise manner. To quantitatively integrate these studies, we conducted a coordinate-based meta-analysis on 15 studies that used amplitude of low frequency fluctuation (ALFF) and 11 studies that used regional homogeneity (ReHo). All these ALFF and ReHo studies have compared PD patients with healthy controls. We also performed a validation RS-fMRI study of ALFF and ReHo in a frequency-dependent manner for a novel dataset consisting of PD and healthy controls.

There is increasing evidence that examining our eyes can tell us a lot of information about our health, and systemic diseases. We want to study what eyes can reveal about serious neurodegenerative diseases like multiple sclerosis, and motor neurone disease, by analysing the retinal images from a simple non-invasive eye scan, that is already being routinely used to provide immediate clinical information in this group of patients.

This study is intended to obtain clinical information and establish a repository of DNA, RNA, peripheral blood monocyte, lymphocyte and skin tissue samples from people with ALS and related neurodegenerative motor neuron diseases, people with a family history of these conditions, and healthy people with no family history of these disorders. The samples will be used in future research to learn about how these disorders affect people, what causes these conditions, and how the investigators can tell when someone has this kind of disease. Future research may also include the generation of stem cells from stored blood cell and skin cell samples. Participants will not be paid for taking part in this study.

Cerebellar ataxia with neuropathy and bilateral areflexia syndrome (CANVAS) is a late onset neurodegenerative disorder with a slowly progressive ataxia. It's genetic causative etiology with an autosomal recessive inheritance has a recent discovery. It is clinically characterized by impaired visually enhanced vestibulo-ocular reflex, although patients commonly present with imbalance as a main concern, associated with sensory complaints. It has been demonstrated that sensory impairment in CANVAS patients is due to degeneration of dorsal root with abnormal sensory nerve conduction. Previously defined diagnostic criteria included cerebellar atrophy on brain MRI, neuronopathy on electrophysiological studies and negative genetic testing for other inherited ataxia syndromes like Friedriech ataxia and spinal cerebellar ataxia (SCA). Peripheral nerve ultrasound is a noninvasive technique, able to identify abnormal peripheral nerves with underlying injuries and specific sonographic characteristics. Pelosi et al established that patients with CANVAS have a smaller nerve cross sectional area (CSA) compared to healthy individuals and/ or axonal neuropathies. The main objective of this study was to obtaine a detailed description of peripheral nerves in consecutive patients with CANVAS syndrome followed in theneurology department of the Universitary Hospital of Nimes (France), using conventional electrophysiology and peripheral nerve ultrasound.

The presence of abnormalities in the cerebral venous circulation, defined as Chronic Cerebrospinal Venous Insufficiency (CCSVI), has recently been reported in patients with Multiple Sclerosis (MS), in healthy subjects and in subjects with other neurological diseases. These reports have aroused much interest both in the scientific world and, above all, among the communities of patients and Associations having the aim of aiding people with MS and of promoting scientific research into this disease. In the literature published so far there is a lack of verification in large samples of the prevalence of CCSVI in MS compared with that observed in healthy subjects and in those with other diseases of the nervous system. This is an observational study investigating the prevalence of CCSVI in subjects with MS and comparing it with the prevalence observed in a control population consisting of Healthy Controls (HC) and in a population affected by other neurological diseases of the central nervous system of degenerative, vascular, inflammatory and autoimmune origin. A total of at least 1,200 adults with MS will be included in the study, as well as 400 healthy subjects and 400 subjects with other neurodegenerative diseases.

The purpose of a CSF repository is to collect samples of spinal fluid from controls and patients with neurologic disorders including but not exclusively ALS, Dementia, CRPS, neuropathies, and other neuromuscular diseases. This CSF repository will allow the use of CSF in biochemical studies of various neurologic diseases. It would also provide a supply of the necessary normal and disease control patients. CSF would be obtained from patients who are undergoing spinal taps for other reasons including diagnosis, treatment, or participation in clinical trials. We are proposing to collect an additional < 3 ml of CSF from a lumbar puncture that is already being performed for diagnostic or therapeutic reasons, in order to store it in our laboratory for use in future research studies. No lumbar punctures will be initiated specifically for this protocol.

The purpose of this study is to collect biofluid samples for the banking and usage in ALS research. Through comparison of these samples, the researchers hope to learn more about the underlying cause of ALS, as well as find unique biological markers, which could be used to develop new therapies.