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Active clinical trials for "Sclerosis"

Results 571-580 of 3381

Studies in Patients With Tuberous Sclerosis Complex

Tuberous Sclerosis Complex

This study is aimed to carry out a systematic study to examine the effects of genetic variants (genetic modifiers) other than TSC genes on phenotypic variability in familial TSC patients (affected parent, child and unaffected siblings) and sporadic TSC.

Recruiting3 enrollment criteria

Circulating Biomarker for Amyotrophic Lateral Sclerosis (ALS)

Amyotrophic Lateral Sclerosis (ALS)

Amyotrophic Lateral Sclerosis (ALS) is a rare disease with a worldwide incidence of 2-3 cases per 100,000 individuals/year and it is characterized by progressive neurodegeneration of motor neurons. When motor neurons degenerate the ability of the brain to initiate and control muscle movement is lost. ALS manifests in two forms: Familiar ALS (FALS) with inherited risk genotypes, accounts for only 10% of cases and sporadic ALS (SALS) without apparent heritability accounts for 90% of cases. ALS can occur in both female and male subjects at any age but is more common in people aged over 40. Although the molecular mechanism underlying the pathogenesis of ALS is still under investigation, recent research has revealed that diseases affecting motor neurons may be associated to alterations of RNA metabolism and biogenesis of small non-coding micro RNAs (miRNAs). miRNAs are circulating molecules, whose expression profiles are widely described to have an important potential in monitoring the progression of a disease, to promote the development of more targeted therapies and/or to determine the effectiveness of treatments. Altered patterns of specific miRNAs expression have been described in several pathological conditions. Evidence shows a significant reduction in the levels of certain miRNAs also in patients with ALS. Among others, miRNA-218 has been described to play a critical role in the onset of motor neurons differentiation and in establishing cell identity and fate. Changes in the levels of miRNA-218 in the serum of ALS patients may potentially provide useful tools to determine the possible association with this disease and to candidate it as indicator of disease progression.

Recruiting12 enrollment criteria

Assessing the Role of Mitochondrial Dysfunction in Primary Progressive Multiple Sclerosis

Multiple Sclerosis

The purpose of this project is to study genetic determinants of mitochondrial impairment in primary progressive multiple sclerosis. Specific aims are: 1) identify mitochondrial-related pathways, inherited and somatic mitochondrial DNA mutations associated to primary progressive multiple sclerosis, 2) functionally assess the identified genetic alterations.

Recruiting4 enrollment criteria

Study of the Intestinal Microbiota of Patients With Systemic Sclerosis

Systemic Sclerosis

The term gut microbiota describes the entire intestinal microbial communities. Studies have established the important role played by the gut microbiome in modulating vital functions of the healthy host. The physiological effects of the microbiota for the host are, for the most part, beneficial. In several pathologies, an imbalance in the composition of the microbiota has been demonstrated. Systemic sclerosis is an autoimmune, disorder of the connective tissue, characterized by vascular lesions, immunological abnormalities, and fibrosis of skin and internal organs As in many inflammatory diseases, there are painful digestive manifestations in systemic scleroderma that affect up to 90% of patients. The exact pathophysiology of the digestive involvement in systemic sclerosis is uncertain. The digestive manifestations of systemic sclerosis are frequent and can affect the entire digestive system. However, there are few studies of the intestinal microbiota in this disease, which seems to be part of the same continuum of diseases with abnormalities of innate immunity. By analogy with chronic inflammatory bowel diseases, particularly Crohn's disease, we have raised the question of the existence of dysbiosis during scleroderma which could lead to episodes of acute, severe and recurrent inflammation of the peritoneum under the influence of triggering factors. The long-term prospects would be to look for ways to prevent attacks or to treat them more rapidly and effectively by using therapeutic targets in the intestinal microbiota. The study population will be seen in the usual care setting, identically to all patients with systemic sclerosis treated in the department. In case of an inflammatory disease outbreak, and depending on its severity, the patient will be seen again in consultation or hospitalized. Appropriate complementary examinations (biology, imaging, endoscopy) will be carried out and the treatment adapted.

Recruiting8 enrollment criteria

Impact of Neuropsychological Disorders in Multiple Sclerosis

Multiple Sclerosis

The study involves MS patients with and without neuropsychological disorders. The patient will benefit from: A routine neuropsychological assessment, including a cognitive and emotional assessment A clinical examination A three-dimensional analysis of movement

Recruiting13 enrollment criteria

Deficient T Regulatory Cell (Treg) Function in Patients With Relapsing Remitting Multiple Sclerosis...

Relapse Remitting Multiple Sclerosis

The purpose of this research is to find out how the T regulatory (Treg) cells control autoimmune response in multiple sclerosis. The investigators will identify Treg molecular markers and changes in function in patients with relapse remitting multiple sclerosis (RRMS). The investigators plan to study T regulatory immune cells in the blood of RRMS patients and control subjects to examine how Treg immune cells' deficient function may be involved in the development of mulitple sclerosis.

Recruiting8 enrollment criteria

From Genetics to Transcriptomics to Unravel the Mechanisms Behind a Poor Outcome in Multiple Sclerosis...

Multiple Sclerosis

MS is a heterogeneous disease either in its response to treatment or clinical manifestation. Indeed, the natural history of MS is varying from a benign condition to a devastating and rapidly incapacitating disease. Clinical heterogeneity could also be cellular and / or molecular. The aim is to identify from OMIC analyses, at the early stage of the disease, differentially expressed molecules and / or cell subpopulations derived from CD8 + T lymphocytes and / or CD4 + T lymphocytes and / or B lymphocytes and monocytes from patients with aggressive versus non-aggressive, compared to a cohort of healthy controls

Recruiting25 enrollment criteria

Expression Profile Study of Macrophages From Patients Affected by ALS or Other Related Motor Impairments...

Amyotrophic Lateral Sclerosis

The aim of this project is to analyze the macrophage transcriptome and protein markers of Amyotrophic Lateral Sclerosis (ALS) patients compared to controls (non-affected individuals, patients with other motor impairments) and asymptomatic ALS gene carriers, to find new pathways for therapeutic targets and disease biomarkers.

Recruiting10 enrollment criteria

Validation of a Novel Instrument Task for Assessing Upper Limb

Assessment of Arm and Hand Sensorimotor Functions in Multiple Sclerosis Subjects

The aim of this study i to investigate a new approach (Physical Peg Insertion Test, PPIT) to measure sensorimotor function in the arm and hand. To achieve this, this novel approach will be compared with an existing approach (Virtual Peg Insertion Test, VPIT).

Recruiting11 enrollment criteria

Efficacy of a Personalized Rehabilitation Program of Facial Involvement in Systemic Sclerosis

Systemic SclerosisFace2 more

Systemic sclerosis is a rare autoimmune disorder characterized by microangiopathy, activation of the immune system, and sclerosis of tissues including the skin. Facial involvement is frequent and disabling. It causes significant functional and aesthetic discomfort, and a major deterioration in quality of life. It results in a loss of suppleness of the skin and subcutaneous tissues, dysfunction of the temporomandibular joint, peribuccal rhagades, microstomia, and dry mouth causing difficulties in mouth opening, feeding, dental care, and weight loss. Facial involvement in systemic sclerosis can be assessed using the Mouth Handicap in Systemic Sclerosis (MHISS) score, a validated patient questionnaire assessing the functional and aesthetic consequences of systemic sclerosis on the face. Although common and disabling, facial involvement is underestimated and poorly managed. Immunosuppressive and/or anti-fibrosis drugs are not very effective. Facial rehabilitation could significantly improve the mouth handicap but facial rehabilitation is not currently performed in standard care in systemic sclerosis patients. The aim of the study is to evaluate the efficacy of a personalized rehabilitation program vs standard care in facial involvement of systemic sclerosis patients.

Not yet recruiting10 enrollment criteria
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