Search for Diagnostic and Prognostic Biomarkers (Molecular Signatures) in Systemic Sclerosis and Inflammatory Myopathies by a Multi-OMIC Strategy Integrating a Single Cell Analysis Approach
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 55
- 试验地点
- 2
- 主要终点
- Comparison of the molecular profiles between systemic sclerosis and inflammatory myopathies at 5 years and versus disease early stage.
研究概览
简要总结
Systemic sclerosis and inflammatory myopathies, which sometimes combine (scleromyositis), have shared pathophysiological elements. In both diseases, many cell subtypes are involved in damage to organs such as T lymphocytes, B lymphocytes, and unconventional (non-B, non-T) lymphocytes called innate lymphoid cell (ILC). The increasing complexity of our understanding of the immune system (multiplication of recognized cell subtypes) also makes the strategies for analyzing pathophysiological mechanisms more complex. Currently, no biomarker perfectly predicts the phenotype and evolution of patients. Multi-OMIC analyzes will be performed (identification of cell populations as well as genomic, transcriptomic and proteomic characterization) in blood and tissue samples (skin and muscle biopsy) in patients with systemic sclerosis and inflammatory myopathies, with the objective of identifying discriminating molecular signatures (biomarkers) according to the characteristics of the disease and its evolution.
详细描述
Cohort study, monocentric, comparative, non-randomized, open-label, prospective and longitudinal, quasi-experimental.
Participating subjects will be classified according to their clinical, biological and additional investigations into one of the 4 populations presented in the eligibility criteria.
A 1st sampling point will be carried out at inclusion visit (baseline). Prospective follow-up of participating patients will be carried out as part of their routine care (1 to 2 visits per year or more if disease complications appear).
During the 5-year follow-up, the investigating physician will remain attentive to the appearance of a new clinical element which will mark the course of the disease.
During the follow-up, 2 more sampling points will be carried out (blood and / or skin) on each participating patient.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Basic Science
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Control population without inflammatory myopathy (population 1), suspected myopathy for whom a blood test and muscle biopsy are required to confirm the diagnosis
- •Confirmed inflammatory myopathy (population 2)
- •Control population without systemic sclerosis (population 3), with primary Raynaud's phenomenon
- •Early diffuse systemic cutaneous scleroderma (population 4)
- •Male or female (age ≥ 18, no upper age limit)
排除标准
- •Populations 1 & 2
- •Contraindication to muscle biopsy
- •Diagnosed for another neuromuscular disease
- •Taking an immunosuppressant / immunomodulator treatment within 3 months before inclusion
- •Unbalanced cardiovascular pathology
- •Population 3 & 4
- •Contraindication to skin biopsy
- •Capillaroscopic and / or immunological anomaly suggesting scleroderma
- •Suspicion of scleroderma but diagnosed for another connectivitis
- •Immunosuppressive treatment (corticosteroids> 15 mg, methotrexate, mycophenolate mofetil) introduced for more than 1 month
- •Active or recent cancer <3 years (apart from non-melanoma skin cancer).
- •- Pregnancy or breast feeding
结局指标
主要结局
Comparison of the molecular profiles between systemic sclerosis and inflammatory myopathies at 5 years and versus disease early stage.
时间窗: At 5 years
Comparison of the molecular profiles (i.e., genomic \[New Generation Sequencing\], transcriptomic \[RNA chip\], proteomic \[mass spectrometry\] and identification of cell population \[single cell RNA sequencing\] between systemic sclerosis and inflammatory myopathies at 5 years and versus disease early stage.
Evolution of the molecular profiles (i.e., genomic [New Generation Sequencing], transcriptomic [RNA chip], proteomic [mass spectrometry] and identification of cell population [single cell RNA sequencing]) of systemic sclerosis during 5 years.
时间窗: 5 years
This study is descriptive (non-analytical), without prior hypothesis. Molecular profiles will be assessed by integration of multi-OMIC tools from a wide range of areas of biochemistry, chemistry, physics, computing science and molecular biology. During the 5-year follow-up, the investigating physician will remain attentive to the appearance of a new clinical element which will mark the course of the systemic sclerosis.
Evolution of the molecular profiles (i.e., genomic [New Generation Sequencing], transcriptomic [RNA chip], proteomic [mass spectrometry] and identification of cell population [single cell RNA sequencing]) of inflammatory myopathies during 5 years.
时间窗: 5 years
This study is descriptive (non-analytical), without prior hypothesis. Molecular profiles will be assessed by integration of multi-OMIC tools from a wide range of areas of biochemistry, chemistry, physics, computing science and molecular biology. During the 5-year follow-up, the investigating physician will remain attentive to the appearance of a new clinical element which will mark the course of the inflammatory myopathies.
Comparison of the molecular profiles between systemic sclerosis and inflammatory myopathies at disease early stage.
时间窗: Day 1
Comparison of the molecular profiles (i.e., genomic \[New Generation Sequencing\], transcriptomic \[RNA chip\], proteomic \[mass spectrometry\] and identification of cell population \[single cell RNA sequencing\] between systemic sclerosis and inflammatory myopathies at disease early stage.
Comparison of the molecular profiles between systemic sclerosis and inflammatory myopathies at one year and versus disease early stage.
时间窗: At 12 months
Comparison of the molecular profiles (i.e., genomic \[New Generation Sequencing\], transcriptomic \[RNA chip\], proteomic \[mass spectrometry\] and identification of cell population \[single cell RNA sequencing\] between systemic sclerosis and inflammatory myopathies at one year and versus disease early stage.
次要结局
- Identification of molecular profiles specific to the evolution of clinical and biological characteristics of systemic sclerosis and inflammatory myopathies(5 years)
- Assessment of the presence of discriminating molecular profiles in different cell subpopulations within these tissues (blood, skin, muscle) in systemic sclerosis and inflammatory myopathies(5 years)
- Identification of molecular profiles specific to the impact of the implementation of targeted treatments in systemic sclerosis and inflammatory myopathies(5 years)
- Assessment of the presence of discriminating molecular profiles in different tissues (blood, skin, muscle) in systemic sclerosis and inflammatory myopathies(5 years)