The Living With a Long-Term Condition Study
AsthmaAtrial Fibrillation43 morePsychological distress (anxiety and depression) is common in and experienced differently by people living with long-term health conditions (LTCs). Being able to measure whether psychological distress is related to living with a LTC would allow researchers and clinicians to provide interventions specifically tailored to the challenges of living with a LTC and therefore provide the most appropriate support for these patients. Such a measure would also be useful in research to identify the presence of illness-related distress in different patient groups. This project will therefore create a new measure of illness-related distress that has applications for both research and clinical practice. This will involve the psychometric validation of the new illness-related distress measure to test how valid and reliable the measure is. The aim of the project is to provide initial validation of the Illness Related Distress Scale in a community sample, recruited through online platforms. The objective of the study is to gather initial validity and reliability data for the scale.
Innovative Measures of Speech and Swallowing Dysfunction in Neurological Disorders
Amyotrophic Lateral Sclerosis (ALS)Myasthenia Gravis3 moreThis study is evaluating the use of two painless, non-invasive technologies in the assessment of muscle health over time in both healthy volunteers and patients who have diseases that affect the nervous system.
Natural History Study of Synucleinopathies
Patients With SynucleinopathiesNeurogenic Orthostatic Hypotension6 moreSynucleinopathies are a group of rare diseases associated with worsening neurological deficits and the abnormal accumulation of the protein α-synuclein in the nervous system. Onset is usually in late adulthood at age 50 or older. Usually, synucleinopathies present clinically with slowness of movement, coordination difficulties or mild cognitive impairment. Development of these features indicates that abnormal alpha-synuclein deposits have destroyed key areas of the brain involved in the control of movement or cognition. Patients with synucleinopathies and signs of CNS-deficits are frequently diagnosed with Parkinson disease (PD), dementia with Lewy bodies (DLB) or multiple system atrophy (MSA). However, accumulation of alpha-synuclein and death of nerve cells can also begin outside the brain in the autonomic nerves. In such cases, syncucleinopathies present first with symptoms of autonomic impairment (unexplained constipation, urinary difficulties, and sexual dysfunction). In rare cases, hypotension on standing (a disorder known as orthostatic hypotension) may be the only clinical finding. This "pre-motor" autonomic stage suggests that the disease process may not yet have spread to the brain. After a variable period of time, but usually within 5-years, most patients with abnormally low blood pressure on standing develop cognitive or motor abnormalities. This stepwise evolution indicates that the disease spreads from the body to the brain. Another indication of this spread is that acting out dreams (i.e., REM sleep behavior disorder, RBD) a problem that occurs when the lower part of the brain is affected, may also be the first noticeable sign of Parkinson disease. The purpose of this study is to document the clinical features and biological markers of patients with synucleinopathies and better understand how these disorders evolve over time. The study will involve following patients diagnosed with a synucleinopathy (PD/DLB and MSA) and those believed to be in the "pre-motor" stage (with isolated autonomic impairment and/or RBD). Through a careful series of follow-up visits to participating Centers, we will focus on finding biological clues that predict which patients will develop motor/cognitive problems and which ones have the resilience to keep the disease at bay preventing spread to the brain. We will also define the natural history of MSA - the most aggressive of the synucleinopathies.
Autoimmune Features of Neurodegenerative Disorders
Parkinson DiseaseAlzheimer Disease1 moreThis study is being conducted to better understand the role of inflammation in Parkinson's disease (PD) and Alzheimer's disease (AD). The investigators plan to recruit 30 PD, 30 AD/Amnestic Mild Cognitive Impairment (aMCI), and 60 age matched healthy controls in this study to study the role of immune response in PD and AD. The study involves up to two study visits involving brief questionnaires and blood draw of up to 250cc (approximately 17 tablespoons) to be collected. More ways to participate, including 1) smaller amount blood donation (up to 100cc per visit for 1-2 visits); and 2) participation via tele-visit and mobile phlebotomy visits (blood donation up to 50cc, ~5 tubes, by a certified mobile phlebotomist at home/location of choice) now available.
Parkinson's Foundation PD GENEration Genetic Registry
Parkinson's DiseaseDevelopment of a central repository for PD-related genomic data for future research.
Subthalamic Nucleus Stimulation With Directional Leads on Patients With Parkinson Disease at Fluctuations...
Parkinson DiseaseSubthalamic Nucleus Stimulation1 morePatients with subthalamic nucleus have to go through a lot of examinations and tests, before and after surgery which is difficult, sometimes painful, for the patient. The investigators used to chose the best plot of the leads for stimulation by a procedure long and exhausting for the patient and the examinator. The investigators can chose the plot using a software (Guide Xt), which can delete the exhausting test. The investigators would like to study the non inferiority of this tool to choose the best plot .
Cerebro Spinal Fluid Collection (CSF)
Alzheimer DiseaseDementia With Lewy Bodies3 moreCognitive neurodegenerative diseases are a major public health issue. At present, the diagnosis of certainty is still based on anatomopathological analyses. Even if the diagnostic tools available to clinicians have made it possible to improve probabilistic diagnosis during the patient's lifetime, there are still too many diagnostic errors and sub-diagnostic in this field. The arrival of biomarkers has made it possible to reduce these diagnostic errors, which were of the order of 25 to 30%. This high error rate is due to different parameters. These diseases are numerous and often present common symptoms due to the fact that common brain structures are affected. These diseases evolve progressively over several years and their early diagnosis, when the symptoms are discrete, makes them even more difficult to diagnose at this stage. In addition, co-morbidities are common in the elderly, further complicating the diagnosis of these diseases. At present, the only cerebrospinal fluid (CSF) biomarkers that are routinely used for the biological diagnosis of neurodegenerative cognitive pathologies are those specific to Alzheimer's disease: Aβ42, Aβ40, Tau-total and Phospho-Tau. These biomarkers represent an almost indispensable tool in the diagnosis of dementia. It is therefore important to determine whether Alzheimer's biomarkers can be disrupted in other neurodegenerative cognitive pathologies, but also to find biomarkers specific to these different pathologies by facilitating the implementation of clinical studies which will thus make it possible to improve their diagnosis.
Systematic Assessment of Laryngopharyngeal Function in Patients With MSA, PD, and 4repeat Tauopathies...
Multiple System AtrophyParkinson Disease1 moreThis is a non-interventional observational study designed to systematically record the results of routine laryngeal examinations and specific characteristics of dysphagia in patients with multiple system atrophy (MSA), Parkinson's disease (PD) and progressive supranuclear palsy (PSP) and related 4repeat tauopathies. The results of a fiberoptic / flexible endoscopic evaluation of swallowing (FEES) while performing a structured task protocol will be recorded. If available, laryngeal electromyography (EMG) results will also be recorded. In addition to the examination results, demographic and disease-specific data are collected, and two questionnaires, the Swallowing Disturbance Questionnaire for Parkinson's Disease (SDQ-PD) and the swallowing specific Quality Of Life Questionnaire (SWALQOL), are administered.
Characterization of Patients With Uncommon Presentations and/or Uncommon Diseases Associated With...
CardiomyopathyLi-Fraumeni Syndrome3 moreBackground: - Researchers are interested in studying individuals who have known or suspected metabolic or genetic diseases that put them at a high risk for heart diseases or diseases of their blood vessels. To improve the results of the study, both affected and nonaffected individuals will be asked to provide blood and other samples and will undergo tests to evaluate heart and lung function. Nonaffected individuals will include relatives of affected individuals and healthy nonrelated volunteers. Objectives: - To study individuals who have or are at risk for cardiovascular diseases, as well as their unaffected relatives and healthy volunteers. Eligibility: - Individuals between 1 and 100 years of age. Participants may be healthy volunteers, individuals with cardiovascular diseases, or unaffected relatives of individuals with cardiovascular diseases. Design: Participants will have some or all of the following tests, as directed by the study researchers: Photography of the face and full body Body measurements Radiography, including chest or limb x-rays Metabolic stress testing to study heart and muscle function Echocardiography to study heart function Magnetic resonance imaging (MRI) studies, including cardiovascular MRI, angiography, and contrast MRI, to study heart function and performance Computed tomography (CT) angiogram to obtain images of the heart and lungs Positron emission tomography (PET) imaging to study possible fat infiltration of the heart Six-minute walk test to study heart, lung, and muscle function and performance Vascular ultrasound to study blood vessel walls Blood, tissue, and other specimens will be collected for research and testing, and will be taken either as part of the clinical study or during surgical procedures. Follow-up studies may be performed under separate research protocols.
Clinical Applicantion of Multi-Tracer PET/MR Imaging in Neurological Disorders/Disease
Alzheimer DiseaseParkinson Disease2 moreThe goal of this clinical trial is to learn about the application of domestic PET/MR in major brain diseases. The main questions it aims to answer are: Overcome the bottleneck of early accurate diagnosis and treatment in major brain diseases clinical practice. Promote the clinical application of domestic PET/MR, enhance international competitiveness. Participants will have a PET/MR scan of the brain.