Active clinical trials for "Sclerosis"

MS is an autoimmune disease of the central nervous system that affects more than 120,000 people in France. The average age of onset of the disease is between 25 and 35 years. Given the wide range of ages of the patients, from 4 to 80 years, the ethical and socio-economic stakes are high in order to maintain their autonomy, sociability, family and intimate life, and their employment in the best possible conditions and for as long as possible. However, to date, there are no evaluation tools in French that allow us to understand the difficulties at work of MS patients. The Multiple Sclerosis Work Difficulties Questionnaire (MSWDQ-23) was developed specifically for MS patients and validated in English [1]. There is a short version of this questionnaire that facilitates its use in clinical practice [2]. It has been translated and validated in Spanish through a multicenter study, and is currently being validated in German, but does not currently exist in French [3]. The main objective of the WORKSEP project is to validate the French version of this questionnaire through a multicenter population-based cohort within the framework of the French-speaking Multiple Sclerosis Society (SFSEP). This validation study will involve the inclusion of 206 French-speaking MS patients, regardless of their professional status, all forms of MS combined, from the early stage (Clinically Isolated Syndrome) to the more advanced stages (primary and secondary progressive forms).

This study seeks to correlate microbiome sequencing data with information provided by patients and their medical records regarding ALS

200 cases of ALS patients were collected to explore whether sleep disorders are related to earlier onset age, and whether sleep disorders accelerate the progress of ALS and shorten the survival time of ALS patients.

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.

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.

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.

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.

Analyse a multidisciplinary follow-up of amyotrophic lateral sclerosis patients, monitored through a Cohort study at Geneva University Hospitals.