Active clinical trials for "Immune System Diseases"

The goal of this research is to identify genes that may be related to the risk of developing CLL. Objectives: The objective of this study to investigate possible candidate susceptibility genes for familial chronic lymphocytic leukemia (CLL) by identifying and recruiting high-risk families. Through our ongoing study of familial aggregation in CLL kindreds (protocol 2003-0498 'Genetic Study of Chronic Lymphocytic Leukemia'), we have identified CLL patients who have one or more living or dead relative(s) affected with CLL or other leukemias or lymphomas. We will also identify patients in high-risk families from referrals from leukemia clinicians and from self-referrals from patients who learn about our study from the ClinicalTrials.gov website. We plan to invite probands (patients diagnosed with CLL) and their family members with other leukemias and lymphomas and a sample of unaffected relatives to participate in a genetic/linkage study. We will obtain demographic and clinical information along with specimens (blood or buccal samples) from all participants. These families will be part of the Genetic Epidemiology of CLL Consortium, a multicenter, multidisciplinary consortium, based at the Mayo Clinic Cancer Center under the direction of Susan Slager, PhD. This is funded from NCI through a subcontract with Mayo Clinic. Genotypic data will be analyzed at Mayo Clinic, and coded, de-identified data will be shared with the NIH Genome-Wide Association Studies (GWAS) data repository.

Evaluate the autoantibodies, such as glutamic acid decarboxylase (GAD65), tyrosine phosphatase (IA-2 or ICA125), islet autoantibodies (IAA) and other associated autoimmune autoantibodies: microsomal antibodies, thyroglobulin antibodies, gastric parietal cell antibodies in patients with type 1 DM.

OBJECTIVES: I. Determine by quantitative magnetic resonance imaging measurements the change in the total volume of brain parenchyma as well as its gray and white matter, T2 and enhanced T1 lesion volume, and the magnetization transfer ratio histogram parameters, and correlate these measurements with clinical measures of disability in patients with multiple sclerosis. II. Measure the quantity of whole brain N-acetylaspartate in patients with multiple sclerosis and compare these values to those from age matched controls. III. Determine the correlation between specific neuropsychological tests which assess global cognitive functioning and the quantitative measurements taken in these patients in this study.

To investigate if asthma affects the inflammatory balance of the endometrium and thereby interfere with implantation, as indicated by the characteristics of the inflammatory cells in the endometrium and airways in women with asthma who are referred for IUI or IVF due to infertility, compared to otherwise healthy women who are referred for IUI or IVF due to infertility.

Asthma is a chronic respiratory disease affecting approximately 10% of the population, the majority of patients with very mild to mild asthma. Asthma is characterized primarily by the presence of symptoms clinical variables, reversible airway obstruction and airway hyperresponsiveness. Inflammation is a key factor in the pathophysiology of the disease. Eosinophilic inflammation is the most common type. However, in the literature it is usually associated with more severe and difficult to control asthma. Although mortality associated with asthma has drastically decreased in recent years, several events still occur. Strangely enough, these frequently affect mild asthmatics. Although there is still a misunderstanding in relation to these events, the most recent practice guides have recommended an approach based on the use of inhaled corticosteroids (ICS) in all, including mild asthmatics. This change of therapeutic cap is still debated, but indicates a need for new studies in this population. Recently, the investigators demonstrated that a subgroup of asthma patients with mild asthma had a eosinophilia. The evolution of this subgroup without bronchial obstruction or respiratory symptoms remains unknown. Indeed, it seems imperative to determine the fate of these subjects in comparison with asthma mild non-eosinophilic since it could be a subgroup at risk of poor outcome. The objective of this study will be to examine the course of asthma in very mild to mild asthma patients who exhibit eosinophilic inflammation of the respiratory tract compared to noneosinophilic subjects. This will be a prospective observational, longitudinal study. Participants for whom a result of induced sputum showing an eosinophil level greater than or equal to 3% was observed at least 1 year ago will be contacted to participate in the study. They will be matched for age, gender and duration of asthma to subjects without eosinophilia. These subjects will not be on bronchial anti-inflammatory medication. They will have a complete evaluation including respiratory function tests, a methacholine challenge and sputum induction. They will also complete questionnaires on controlling their asthma and exacerbations.

The coronavirus (COVID-19) pandemic has brought severe challenges for myeloma patients. Myeloma patients are considered ultra-high risk for COVID-19 and fall into the strictest group for shielding. When on treatment, but also during times of active surveillance, patients have to regularly and frequently leave shielding and visit the hospital for blood tests to monitor their disese. This is specifically for quantification of circulating tumour protein biomarker tests for paraprotein (PP) and/or serum free light chains (sFLCs) by specialised biochemistry units. This research aims to evaluate the potential use of an at-home patient administered technique to sample blood. The purpose of the blood sampling technique is to monitor your disease status. We want to test if it is possible to monitor a patient's disease status using this alternative blood collection method when compared to monitoring disease status using the traditional blood collection methods (venous blood sampling). The new VAMS method is not intended to be used interchangeably or will not replace the current method. This study is to evaluate an alternative sample type that may be used to improve the patient pathway, especially during these uncertain times.

The 3-m backward walk test (3MBWT) is used to evaluate neuromuscular control, proprioception, protective reflexes, fall risk and balance. The aim of our study was to reveal the test-retest reliability and validity of the 3MBWT in Multiple Sclerosis patients. Our study will be done as a "test-retest" design and psychometric properties of 3 m backward walking test in MS patients will be examined. Mini Mental State Examination, 3 m walk back test, Berg Balance Scale, Timed Up and Go, Timed 25 Step Walking Test and 4-Square Step Test will be applied to the patients. All evaluations will be made by the same physiotherapist. The second and third evaluation (retest) will be performed by the same physiotherapist two days after the first evaluation (test) and 2 weeks later to measure test-retest reliability. It will be preferable to collect data with the same evaluator to avoid inter-rater error rate between evaluations. It will be preferable to collect data with the same evaluator to avoid inter-rater error rate between evaluations. The sample size, according to Lexell and Downham (2005), 40-50 participants should be included in reliability studies. Considering this recommendation, which defines the reliability of 3MBWT, it is planned to include 50 individuals with MS in our study.

Human speech is as unique as a fingerprint and analysing speech had advanced so much that speech can now be used instead of PIN numbers in banking. The investigators want to find out whether changes in everyday speech can signal the worsening of asthma. The investigators are planning to collect voice samples from people as their asthma gets better and worse in order to analyse the changes in voice quality - if any. The participants donating the voice samples will remain anonymous and the voice files will be transferred securely to our analytic system.

Asthma is a chronic inflammatory disease of the airways that causes recurrent episodes of wheezing, breathing difficulties and coughing. The prevalence of asthma is 8% in school-aged children and 30% in preschoolers, making asthma the first chronic disease in children. Symptoms are due to diffuse but variable airway obstruction, reversible spontaneously or after inhalation of beta2 agonists (β-2a) such as salbutamol. Exacerbations of asthma are frequent and difficult to assess by parents and the patient himself. It is estimated that approximately 2.5% of children with asthma are hospitalized annually. The global burden caused by asthma can thus be reduced by improving early detection of bronchial obstruction, prescribing immediate treatment with the appropriate background therapy, and reliably and objectively assess response to treatment. The natural history of asthma symptoms in children shows a great intra and inter-individual variability. The difficulty of assessing the severity of an attack by the parents or the child himself, when he is old enough to control his chronic disease, is a key element in the management of asthma and allows the treatment to be adapted quickly, sometimes avoiding hospitalization. Healthcare professionals can assess the severity of the episode using the Pediatric Respiratory Assesment Measure (PRAM) score, which has the advantage of being adaptable at any age. The Global Alliance against Chronic Respiratory Diseases (GARD) integrates in its diagnostic strategy for chronic respiratory diseases, the lung function test, which allows the quantification of respiratory function in the context of diagnosis and long-term follow-up. Although spirometry are non-invasive tests, they still require a high level of patient cooperation, which remains problematic before the age of 7 years. The digital stethsocope integrates a capacity for recording auscultations and data transmission to high-performance software. This has made it possible to extend auscultation beyond what was audible to the human ear alone (over 20-20,000 Hertz).Auscultatory sounds analysis, particularly those most often associated with obstructive syndrome could be simple, reproducible and a reliable method of assessing the severity and response to treatment in children's asthma. Major advances in signal processing and unsupervised learning in artificial intelligence research provide the potential for high-performance analysis of physiological measures.

Glial fibrillary acidic protein (GFAP)-Immunoglobulin G (IgG) have recently been described as a biomarker of a novel inflammatory central nervous system (CNS) disorder, termed autoimmune GFAP astrocytopathy. Thus far, four major clinical series have been published (two from Mayo Clinic USA, one from Italy and one from China). GFAP-IgG detected in serum or in cerebrospinal fluid, by tissue-based assay and confirmed by cell-based assay, are associated with encephalitis or meningoencephalitis of acute or subacute onset, less frequently with myelitis or optic disk edema. The characteristic MRI feature is brain linear perivascular radial gadolinium enhancement in the white matter perpendicular to the ventricle, consistent with the immunohistochemical staining pattern of GFAP in rodent brain sections. Approximately 20% of reported cases are associated with a neoplasm (ovarian teratoma mostly). Coexisting neural autoantibodies are described in some patients, N-methyl-D-aspartate (NMDA)-receptor (R)-IgG mostly, followed by aquaporin 4 (AQP4)-IgG. The disease is usually corticosteroid responsive although relapse can occur. In contrast, Chinese patients display poorer outcomes. Pathophysiology is not well understood but the intracellular antigen location makes GFAP-IgG unlikely pathogenic whereas animal models and neuropathologic data suggest a T-cell immune-mediated disorder. The aim of the investigators is to report the first French cohort of patients GFAP-IgG positive. Investigators retrospectively assessed clinical, immunological and radiological features, treatment response and outcomes.