Biomarkers in Systemic Histiocytosis
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 500
- 试验地点
- 1
- 主要终点
- Identification of new biomarkers involved in histiocytosis
研究概览
简要总结
Systemic histiocytoses in adults (Langerhans cell histiocytosis, Erdheim-Chester disease, and Rosai-Dorfman disease) are rare inflammatory disorders in which recent discoveries have identified a clonal origin, with activating mutations in the MAP kinase pathway, enabling access to targeted therapies. However, the mechanism by which these mutations induce an inflammatory profile in tissue histiocytes remains largely unknown.
Despite these advances, there is a clear need to refine diagnostic and prognostic classification, to identify the biological mechanisms involved in the onset and progression of these diseases, to develop new targeted strategies, and to establish minimally invasive monitoring methods (liquid biopsies).
This project aims to make a decisive contribution toward these goals.
详细描述
Systemic histiocytoses are rare diseases with a clinical spectrum ranging from mild forms to severe, life-threatening multi-organ involvement. Numerous recent studies have identified somatic mutations in the MAP kinase pathway in tissue-infiltrating histiocytes, providing a better understanding of the disease pathophysiology and enabling access to more effective targeted therapies. However, due to the extreme rarity of these diseases, many unknowns remain.
These mutations do not appear to induce a proliferative oncogenic process, as seen in cancers where similar mutations have been identified. Instead, they seem to trigger a pro-inflammatory and pro-fibrotic immune response, ultimately leading to organ damage. The immune mechanisms induced by these mutations in histiocytes remain unexplored.
There are also currently no reliable data to accurately predict disease progression, including survival, treatment response, remission, or organ involvement.
It is therefore essential to establish patient cohorts to improve disease understanding and to identify effective diagnostic, prognostic, and predictive biomarkers-whether for standard treatment response or as potential theranostic markers (actionable by a specific treatment).
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
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
- •Age ≥ 18 years
- •Patient followed for systemic histiocytosis in Internal Medicine Department 2 at Pitié-Salpêtrière Hospital
- •Non-opposition to participation in the study
排除标准
- •Pregnant or breastfeeding women
- •Patients without French social security or covered by State Medical Aid (AME)
- •Patients deprived of liberty by judicial or administrative decision, or under legal protection
结局指标
主要结局
Identification of new biomarkers involved in histiocytosis
时间窗: 10 years
Plasma concentrations of several cytokines and chemokines involved in inflammation and fibrosis will be assessed using ELISA and Luminex assays (CSF, EGF, GM-CSF, FGF-basic, IFN-α, MCP-1, HGF, IFN-γ, MIG, VEGF, IL-1β, MIP-1α, IL-1RA, MIP-1β, IL-2, RANTES, IL-2R, IL-4, IL-5, IL-6, IL-7, IL-8, IL-10, IL-12 (p40/p70), IL-13, IL-15, IL-17, TNF-α, and Eotaxin),
次要结局
- Identification of new biomarkers involved in histiocytosis(10 years)
- Description of the correlation between the identified biomarkers and clinical manifestation of histiocytosis(10 years)
- Description of the correlation between the identified biomarkers and prognosis of histiocytosis(10 years)
- Description of the correlation between the identified biomarkers and response to treatment(10 years)