Active clinical trials for "Neurodegenerative Diseases"

The literature to date indicates that noninvasive positive pressure ventilation (NIPPV) provides effective noninvasive ventilator support, prolongs survival, and improves quality of life (QOL) in Amyotrophic Lateral Sclerosis (ALS) patients. It is generally recommended to patients when their pulmonary function testing demonstrates a drop to 50% forced vital capacity (FVC). One result of using NIPPV may be a reduction in the work of the breathing which would lead to decreased caloric needs. However, the work of breathing and the effects of noninvasive ventilation on caloric use have not been studied in patients with ALS. This is extremely important since there may be a reduction in the caloric needs when ALS patients are placed on NIPPV and if the caloric intake is not adjusted, overfeeding can occur. Overfeeding with too many calories can lead to an increase in carbon dioxide which would actually worsen the respiratory failure. The overall aim of this project is to evaluate how many calories are used by ALS patients while at rest, when placed on NIPPV, and when breathing against a resistance. This will be accomplished using a metabolic cart during these activities. At present, the metabolic cart is routinely used in ALS patients at the time of feeding tube placement to calculate caloric needs. Using the cart to calculate the caloric expenditure on and off the ventilator will aid in calculating the work of breathing and the effects of NIPPV on work of breathing.

The specific aim of this study is to compare ocular movements abnormalities between males with pre-mutation on FRM1 gene (symptomatic or asymptomatic on the motor plan and/or on the cognitive plan), males without the pre-mutation and males with multi-systematized atrophy, in order to identify the neuronal structures implicated in this pathology.

The purpose of the interventional study is to determine whether Nicotinamide is effective at upregulating the Frataxin (FXN) gene in patients with Friedreich's ataxia (FRDA) where this gene is abnormally 'switched off'. The purpose of the non-interventional study is to investigate the use of novel, highly-sensitive technology to capture clinical deficit and measure subtle changes in the activities of daily living and to correlate functional changes to levels of expression of Frataxin protein and the epigenetic structure of the Frataxin gene over a 9-12 month period without nicotinamide. Healthy volunteers will be included as comparators in this part of the study.

This is a cross-sectional and longitudinal study to evaluate the clinical utility of [18F]THK-5351 positron emission computed tomography in cognitively healthy volunteers, mild cognitive impairment (MCI), Alzheimer's disease (AD) and other neurodegenerative patients.

The progression of neurodegenerative disorders and the increasing number of elderly people intensifies the need of institutional care, which contrasts with the desire of most elderly and patients to live independently at home. The rapid evolution of assistive technology offers new possibilities in providing medical professionals preventive services in real-time. Therefore, the main focus of this study is on the individual sensors and how they can be combined to one unobtrusive system to assess the human behaviour and daily activities during day and night in an instrumented apartment in healthy participants.

Apathy, defined as a lack of motivation in behaviour, cognition and affect, is common in neurodegenerative diseases. Specific scales are available for the evaluation of apathy but it lacks objective evaluation methods. The aim of this study is to evaluate the changes in reaction time task according to the presence or absence of reward stimulation and to assess the relation between these performances and apathy scales.

This study will investigate the performance of physician readers trained to read florbetapir-PET scans using electronic media training.

The investigator aims to examine the clinical utility of WES, including assessment of a variety of clinical outcomes in undiagnosed pediatric cases.

ALCOTRA (Alpes Latines COoperation TRAnsfrontalière) is one of the European cross-border cooperation programmes covering France and Italy and financed by the ERDF (European Regional Development Fund). It includes the thematic plan (PITEM), called "PROSOL" (PROximity and SOLidarity), set up in the PIEDMONT region (Italy). The PITEM PROSOL strategy aims to develop new social and health services for vulnerable populations in the rural areas and cross-border Franco-Italian mountains of the South regions (Provence Alpes Cote d'Azur, Liguria, Piedmont and Aosta valley). As part of the PITEM PROSOL project, a PROSOL telemedicine platform has been developped for the management of isolated patients from the territory of the Latin Alpes and suffering from neurological diseases (neurodevelopmental disorders, neuromuscular diseases and neurodegenerative diseases). These patients are divided into 3 experimental groups: WOMEN (project 5106), SENIORS (project 4128) and YOUTH (project 5162). A PROSOL e-learning platform (https://www.prosol-elearning.com/) has also been developped for these patients, their caregivers and community physicians to improve knowledge and management of these diseases. Experimentation of these platforms by several participants (and their caregivers) has highlighted the need, often discontent, of a personalized management of physiotherapy for patients with neuromuscular diseases (MNM) and neurodegenerative diseases (Alzheimer's disease). As physical activity has a beneficial and protective effect of these diseases, and inactivity is one of the important risk factors in worsening symptoms contributing to the loss of patients' motor and cognitive functional abilities, a program of self-physical rehabilitation has been designed by neurologists and physiotherapists of expert centers for a personalized and adapted treatment for each patient. The PROSOL TELEKINECT project offers a physical rehabilitation program to be carried out autonomously at home, with coaching by physiotherapists via the telemedicine platform, as well as close monitoring of exercise response regarding the level of pain and fatigue of patients, thus ensuring their maximum safety. The objective of the PROSOL TELEKINECT project is to evaluate the value of an appropriate physical rehabilitation programme for each type of patient. The feasibility and beneficial effects of this program will be assessed using conventional assessments of motor function and patient quality of life, but also using a connected watch coupled with artificial intelligence algorithms to collect and analyze physiological data remotely in real time in the patients' natural environment. The results of this pilot study will be used to lay the foundation for a larger clinical study to test a new digital strategy for self-treatment rehabilitation, aimed at reducing unequal access to care for patients with neuromuscular and neurodegenerative diseases, and residents of transboundary territories, thus offering the establishment of a preventive and supportive approach to these diseases.

The Translocator Protein (TSPO) is a protein which reaches very high levels when there is inflammation in the brain. Recently, radioligands have been developed which attach to the TSPO (a radioligand is a drug which has been tagged with radioactivity). Using positron emission tomography (PET) imaging, the radioligand can be detected following injection into a patient. However, it is difficult to accurately measure the amount of TSPO using PET at the moment. This is because the brain does not have a "reference region" for TSPO (ie an area in the brain with no TSPO at all). "Reference regions" are very useful to help work out how much of a PET signal represents "specific binding" (of the radioligand to the target of interest), and how much represents "non specific binding" (of the radioligand to many other structures which are not of interest). In the absence of a reference region, non specific binding can be estimated by giving a drug which binds to the TSPO. The drug prevents the radioligand binding the TSPO and (in a manner of speaking) "creates" a temporary reference region so non specific binding can be measured. To do this, we will use XBD173 (Emapunil is an anxiolytic drug which acts as a selective agonist at the peripheral benzodiazepine receptor) to bind TSPO and block binding of the PET ligand ([11C]PBR28), a TSPO ligand from the phenoxyarlyacetamide class. Most TSPO PET studies (and in one of our previous studies approved by West London REC) quantify the signal using a ratio of specific binding in the brain to radioactivity in the blood. This requires arterial line insertion which is burdensome for subjects, and increases variability. In this study we aim to determine the ratio of specific binding in the brain to nonspecific binding in the brain by using the temporary reference region. For more accuracy the participants will repeat the scanning procedure so determine test-retest variability of the amount of TSPO.