Relating Genetic and Environmental Risk Scores to Multiple Sclerosis Susceptibility
Multiple SclerosisBackground: - Research shows that both genes and the environment influence a person s risk for getting multiple sclerosis (MS). However, it is not possible to accurately predict who will develop MS. Researchers want to study people with MS and their family members. They have developed a Genetic and Environmental Risk Score for MS. This score combines information from a person's medical history and genes. It also includes environmental factors that may be related to developing MS. This study will test this risk score to see if it can help predict who will develop MS. Objectives: - To evaluate a score for genetic and environmental risk factors that may help predict whether a person will develop MS. Eligibility: Individuals at least 18 years of age who have MS. Individuals between 18 to 50 years of age who are the parent, brother, sister, or child of a person with MS. Design: People with MS will allow researchers to look at their personal and medical data. These data will have been collected in other MS-related studies. Relatives of people with MS will fill out a questionnaire and give blood and saliva samples. They will fill out the questionnaire again one year later. Some relatives will have additional optional testing. These tests will include a physical exam and imaging studies. There may also be other tests. These tests may be repeated every 1 to 5 years for 20 years.
An Observational, Retrospective, UK & Ireland Audit of Patient Adherence to Rebif® Injections Using...
Relapsing Multiple SclerosisThis is an observational, retrospective, UK & Ireland audit measuring patient adherence to Rebif® injections with the RebiSmart™ injection device. Data will be collected from Multiple Sclerosis (MS) patients who have been prescribed Rebif® and have been using the RebiSmart™ device for injection for a minimum of 24 months.
Real-World Betaseron Health Economic Outcomes Study for Relapsing Forms of Multiple Sclerosis
Multiple SclerosisRelapsing-RemittingA Web based real world observational study in Relapsing-Remitting Multiple Sclerosis (RRMS) population capturing outcomes reported by patients and by the physicians during 12 months after initiating or resuming Betaseron.
Oral Health and People With Systemic Sclerosis
Systemic SclerosisThe public health impact of this study will be the application of the greater understanding of the oral health status, oral health related behaviors, and quality of life of patients with systemic sclerosis (scleroderma or SSc). It is hoped that risks and protective factors can be identified to be associated with the oral health status of adults with systemic sclerosis,leading to the development of interventions for improved oral health in this population,and providing the basis for a larger study of oral health problems of adults with systemic sclerosis.
Characterizing Upper Extremity Function in Individuals With Multiple Sclerosis
Multiple SclerosisUpper extremity (UE) function is critical to maintaining independence. Better understanding of UE involvement in MS will provide necessary information to prioritize the design and selection of future interventions. The goal of the proposed project is to characterize UE involvement in a population of community-based persons with MS across the International Classification of Functioning, Disability & Health (ICF) domains and constructs.
Hemodynamic Changes in Connective Tissue Disease
Systemic SclerosisThe study serves the identification of early forms of pulmonary arterial hypertension (PAH) in connective tissue disease and the hemodynamic follow-up of the investigated patients. The basic hypothesis is that PAH may start with a remodeling of small pulmonary arteries, which leads to a stiffening of the vessels, indicated by the inability to vasodilatation and thus a disproportional increase in pulmonary pressure during exercise. Recent studies have shown that a proportion of such patients may develop manifest PAH within a few years. The early identification of these patients and the understanding of the natural course of the disease may improve prognosis. The aim of the present study is to investigate hemodynamic and clinical changes in patients with connective tissue disease in a time interval of 3-5 years with a focus on the development of pulmonary hypertension.
Mycophenolate Mofetil Pharmacokinetics in Systemic Sclerosis
Systemic SclerosisGastrointestinal ComplicationDrug of investigation: Mycophenolate mofetil (MMF), given orally as a tablet twice daily. Dosage of drug: This study recruits patients who have been prescribed a steady dose of MMF in the range between 1000 and 3000 mg daily by their physician. Design: This is an open-label PK study. Disease studied: Systemic sclerosis (SSC, scleroderma). Variables assessed: Estimated AUC0-12 for MMF. Gastrointestinal manifestations of SSc. Concomitant medication. Study population: Inclusion criteria: Diagnosis of SSC fulfilling the 2013 classification criteria for this disease. Participant should have been prescribed a stable dose of MMF tablets, taken twice daily, for at least 3 months prior to the study. Exclusion criteria: Failure to comply with study protocol. Limited access to repeated venous puncture. Recipient of organ transplant. Pulmonary arterial hypertension. Number of participants: The study aims at the inclusion of 35 subjects. Primary objective: To investigate the PK of orally ingested MMF in SSC. Secondary objectives: To investigate how SSC manifested in the gastrointestinal (GI) tract may alter the PK of MMF. To investigate how the PK of MMF in SSc is altered by medications often used in SSC, i.e. proton pump inhibitors (PPI), NSAID and calcium channel blockers.
Improved Detection of Multiple Sclerosis Plaques in Inversion Recovery by Optimization of Sequence...
Multiple SclerosisThis study evaluates different optimized MRI sequences for the detection of brain lesions in patients with multiple sclerosis in comparison with the recommended FLAIR sequence
Amyotrophic Lateral Sclerosis: a New Paradigm
Amyotrophic Lateral SclerosisAmyotrophic Lateral Sclerosis (ALS) is a degenerative neuromuscular disease, progressing inexorably to respiratory failure, the by involvement of respiratory muscles, the commitment with most impact on the prognosis of ALS. According to current knowledge, the clinical presentation of the disease is characterized by spinal or bulbar involvement, the latter being associated with a worse prognosis. There are multiple factors described in the aetiology of ALS, as the successive damage the motor neuron, which can happen in high-impact athletes, or exposure to heavy metals. Genetic mutations are also described, being associated to a higher prevalence of ALS. Data from retrospective studies with ALS populations reveal a prevalence of 4-8 cases per 100,000 persons. Research carried out in Trás-os-Montes e Alto Douro region (Northeast of Portugal) shows a high prevalence of ALS, with near 10 cases per 100,000 persons, with a recent increase in the bulbar involvement. The reasons for the high prevalence of ALS in this region are unknown.
Electrophysiological Study of Spatiotemporal Gait Parameters in Patients in Early Stage of Multiple...
Multiple Sclerosis35 patients with multiple sclerosis have been enrolled in a previous study to record and analyze gait parameters. This study aims to enroll gender and and matched healthy subjects for a control group, to compare patients' gait parameters with healthy subjects'.