
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'.

Study of Gene Polymorphisms Involved in the Metabolism and Action of Vitamin D in Amyotrophic Lateral...
Amyotrophic Lateral SclerosisThis is a case-control study performed on a biological collection. The polymorphisms present on a pre-defined list of genes will be studied for 400 Amyotrophic Lateral Sclerosis (sporadic type) DNA samples and 400 control DNA samples.

Non-interventional Study to Assess Adherence to Treatment for Patients With RMS (MAIN-MS)
Relapsing Multiple Sclerosis (RMS)This is an open label, non randomized, uncontrolled, multicenter, single arm observational study. In this study, the enrolled subjects will be treated with Rebif human serum albumin (HSA)-free formulation (with or without RebiSmart) 44 microgram (mcg), subcutaneous (sc), thrice in a week (tiw) for 24 months.

Rehabilitation in Multiple Sclerosis - Sometimes Too Much?
Multiple SclerosisThe primary objective is to evaluate changes in fatigue and physical activity (step counts) before and after rehabilitation in patients with MS (EDSS 3-6.5). The association of changes in fatigue and physical activity will also be analyzed for disease severity (EDSS), age, emotional status (depression) of the participants.

Acoustic and Perceptual Markers of Dysarthria in Amyotrophic Lateral Sclerosis (ALS)
Amyotrophic Lateral SclerosisPrimary Lateral Sclerosis1 moreThis study proposes to identify acoustic and perceptual markers related to upper motor neuron (UMN) degeneration and lower motor neuron (LMN) degeneration in the dysarthria of patients with amyotrophic lateral sclerosis (ALS) which involves the degeneration of both systems. ALS patients will be gathered in clinical groups according to electromyogram (EMG) and clinical signs observed in the bulbar site. UMN signs are defined as jaw clonus, gag reflex and pseudobulbar features (lability). LMN signs are defined as lingual atrophy and fasciculations. The dysarthria will be compared to dysarthria of patients involving an exclusive UMN system degeneration (in primitive lateral sclerosis) and an exclusive LMN system degeneration (Kennedy's disease). Patients will be compared to the controls who permitted to establish the standards of the "MonPaGe" tool. MonPaGe is a computerized tool based on a multidimensional and quantified assessment of voice and speech, by a set of targeted acoustic and perceptual criteria.

BETAEVAL Global - The New BETACONNECT Auto-injector : Adherence and EVALuation of Multiple Sclerosis...
Multiple SclerosisRelapsing RemittingConsidering the significance of an early and consequent Multiple Sclerosis (MS) treatment as well as the challenge to achieve high adherence to treatment, evaluating the benefits of any new measure to improve adherence is important. The data storage capabilities of the BETACONNECT device, including the automated recording of injections, will facilitate the collection of reliable data on patient's injection behavior and adherence, which should be unaffected by recall bias or reporting bias. To better understand the utilities of the new BETACONNECT device and characterize its contribution to adherence, we plan to prospectively follow-up MS patients using this device for 24 weeks. The study will take place in a real-life setting in Neurology centers across Europe.

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.

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.

Conception of an ICF Core Set for Systemic Sclerosis
Systemic SclerosisThe purpose of this study is to create and validate an ICF core Set for Systemic sclerosis