Active clinical trials for "Sclerosis"

Eosinophils are involved in tissue remodeling and fibrosis in many inflammatory diseases. Systemic sclerosis (SSc) is an autoimmune disease with fibrotic skin and lung complications. The profibrosing properties and data from the SSc literature suggest a possible role of the eosinophils in the process of fibrogenesis of SSc.

Ocrelizumab is FDA approved for therapy of multiple sclerosis (MS). It depletes B cells and stops MS inflammation.

Multiple sclerosis (MS) is a chronic progressive neurological autoimmune disease, that gradually affects patient's quality of life. There are about 2.5 millions patients world wide, with an increasing cost Burdon. Up to date, it remains unclear who are the exact cells to initiate the disease. During the disease, the repertoire of cells expands and undergoes changes. The purpose of this study is to characterize those changes.

Magnetization transfer imaging is a magnetic resonance technique that has been used over the last few years, and known for its ability to detect abnormalities that can be difficult to detect by conventional MRI techniques. The investigators would like to test if using an 7 Tesla MRI research scanner can help us diagnose Multiple Sclerosis more efficiently compared to the current clinical practice, i.e. if Multiple Sclerosis lesions in Gray Matter can be more readily identified and associated with disease stage on Magnetic Transfer MRI images as opposed to conventional procedures. Image analysis will allow the investigators to perform lesion segmentation and sequence comparison between different MRI techniques. The investigators will apply computation techniques to measure the local cortical thickness. Repeated scans at 6 monthly intervals over two years will give an insight into the changes in cortical thickness over time. Based on obtained data the investigators will look for the relationship between lesion loads in White Matter and Gray Matter, cortical thickness and disease stage.

To determine wether multimodal MRI (conventinal T1 and T2 sequences, diffusion, magnetization transfer, spectroscopy) is reproducible; to follow up a cohort of patients with early remmittent MS after treatment with interferon.

Fatigue is a frequent and disabling symptom in patients with multiple sclerosis (MS). The pathophysiology of this sign is not fully understood. Some data suggest that the fatigue is associated with sleep disorders. The aim of this study is to determine the polysomnographic parameters in MS patients with fatigue in comparison to MS patients without fatigue.

OBJECTIVES: I. Determine whether defects in fibrillin-1 cellular processing are present in the tsk1 mouse model that carries a known FBN1 gene rearrangement and in a population of Choctaw Native American patients with systemic sclerosis who have a strong genetic predisposition to the disease. II. Determine the ultrastructural features of fibrillin-1 in these patients. III. Screen the FBN1 gene for mutations beginning at the regions homologous to the tsk1 duplication and latent transforming growth factor binding proteins in these patients and in an unaffected Choctaw control group. IV. Determine the correlation between fibrillin-1 abnormalities and clinical presentation, autoantibodies, and ethnicity.

Both Neurofibromatosis type 1 (NF1) and Tuberous Sclerosis Complex (TSC) are highly heterogeneous diseases. Cognitive features seem to vary widely even between family members carrying the same mutation. This phenotypic variability is not well understood, but is generally assumed to be caused by modifier genes which regulate the affected pathways. However, recent studies brought forward an alternative explanation for the phenotypic variability. Post-mortem studies showed that second hit mutations causing loss of the second ('healthy') allele are more widespread than previously believed. These loss of heterozygosity (LOH) mutations cause bi-allelic loss of the disease-linked gene and are known to cause the gross of somatic features in both diseases (like neurofibromas and hamartomas). Hence, it could be the stochastic occurrence of second-hit mutations in the brain are the cause of the variable cognitive phenotypes. To investigate to what extent these LOH mutations in the brain contribute to the phenotype and to what extent this variation is due to genetic modifiers factors is unknown. The investigators therefore propose to elucidate this variability by comparing the correlation of cognitive features of monozygotic twins with NF1 or TSC to healthy twins in the population. If modifier genes are the cause of the variability of cognitive features in NF1 and TSC the investigators expect that the variability in cognitive tests in monozygotic twins is the same as monozygotic twins in the healthy population. However, if the variability is caused by the occurrence of LOH mutations, the investigators expect to have a lower correlation in our monozygotic patients compared to the healthy twins.

Systemic sclerosis is a rare pathology characterized by fibrosis and vascular lesion with skin, pulmonary, digestive and cardiac localisation. Calcinosis cutis is commonly described, but its prevalence and appear few documented in literature. Moreover, this studies used clinical observation to determine presence or absence of calcification, and rarely radiography, in particular for feet localisation. In the same way, skin calcification and organ injury association appear unclear. The aim of the study is firstly to determine prevalence of calcinosis cutis, with hand and feet radiography realisation in a cohort of systemic sclerosis patient. Secondly, will be determine the correlation between calcinosis and organ injury.

The aim of this study is to obtain an early biomarker of amyotrophic lateral sclerosis and Friedreich's Ataxia which allows to diagnose the disease in an initial stage and to follow up the patient with optic coherence tomography, a fast, non-invasive and comfortable method