Active clinical trials for "Sclerosis"

HLA-DRB1 * Gene and some genes involved in inflammation and immunity (IL-7R, GPC5, CTSS) have been linked to risk of MS and the response to treatment with immunomodulators. This research aims to estimate the risk that confers some variations in the sequence of these genes.

The study will based on qualitative methods investigate motivational factors among patients diagnosed with multiple sclerosis for registering nutrition, environmental factors, stress provoking factors and physical activity (NESPA). The aim is to gain knowledge on motivational factors for using a digital tool for collecting data on NESPA and incorporate this knowledge into a form which can be used in requirement specifications for such a digital tool.

To develop a test to characterize and monitor Multiple Sclerosis (MS) disease status and therapy response from a participant's home by analyzing the gene expression from participant self-collected blood samples using a novel fingerstick collection kit.

Fatigue is consistently rated as the top symptomatic complaint for individuals with multiple sclerosis (MS). Currently, the MS Fatigue Impact Scale (MFIS), a subsection of the Multiple Sclerosis Quality of Life (MSQoL), is the clinical standard used by neurologists for monitoring and tracking fatigue in individuals with MS. However, fatigue is multidimensional phenomenon and subjective measures have had poor or limited relationships with functional status. While previous study has focused on contributing factors to fatigue such as sleep disorders and diminished cortical excitability, this line of inquiry has neglected the role of muscle structure and function on fatigue in every day functional tasks. An alternative approach is to assess quantitative fatigue using anaerobic testing methods. However, more knowledge is needed to understand the role that quantitative fatigue plays in self-reported fatigue measures and function of daily activities. Our purpose is to determine the association between quantitative fatigue tests with performance-based measures of mobility and self-reported health-related quality of life. Our secondary goal is to understand how the intrinsic properties of muscle tissue influence muscle performance in Veterans with MS.

This study aims to investigate the factors (clinical, care-related and genetic) affecting renal outcome in patients with TSC (Tuberous sclerosis complex)

The purpose of this study is to determine whether there is a correlation between cognitive functions and volume of specific brain area measured in MRI of multiple sclerosis patients.

This is a multi-center, prospective, controlled study. MS patients (1° group: 30 patients in relapse; 2° group: 30 patients in remission) and age/sex-matched healthy controls (3° group: 30 subjects) will be enrolled in the study. Patients' disability level will be evaluated by EDSS and MSFC. Patients and controls will be tested for either coagulation/complement (C3, C4, C4a, C9, fibrinogen, factor VIII and X, D-dimer, protein C, protein S, antithrombin, factor II, aPTT, von-Willebrand factor), soluble markers of endothelial damage (thrombomodulin, Endothelial Protein C Receptor), antiphospholipid antibodies, lupus anticoagulant, complete blood count, viral serological assays or microRNA microarray. Patients will undergo dynamic susceptibility contrast-enhanced MRI using a 3.0-T scanner to evaluate CBF, CBV, MTT, lesion number and volume.

The research is aimed to explore the needs of clinical patients and their caregiver,so as to provide suggestions to the designer of the communication system.

The purpose of this study is to compare walking to leg strength and endurance in people with multiple sclerosis (PwMS). Using these findings, we hope to be better understand what causes PwMS to have problems walking.

Tuberous Sclerosis is a rare genetic disorder that affects about one in 15,000 individuals. It is part of the phacomatoses: a germline mutation of the gene Tuberous Sclerosis Complex 1 (TSC1) or TSC2 causes a protein dysfunction, hamartin and tuberin respectively, leading to mTOR signaling pathway activation, thus tumors rise on the skin but also brain, eyes, kidneys, heart. Thanks to the advent of sequencing techniques of the human genome, genes involved were found twenty years ago. Most commonly, these are de novo private mutations and autosomal dominant Mendelian transmission. About 15% of patients have a phenotype corresponding to the disease but no mutation is found. Although the initial clinical description was in 1880, publications regularly describe new signs in Tuberous Sclerosis, especially for skin. Cutaneous manifestations are important in the diagnostic criteria of the disease and often even the first sign of appeal. However, no data is available on the relationship between genotype and dermatological phenotype. Therefore the investigator intend to review all cutaneous finding in Tuberous Sclerosis patient and try to link with their mutation.