Functional and Genetical Characterization of Pulmonary Langerhans Cell Histiocytosis: Diagnostic and Therapeutical Implications.
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 20
- 试验地点
- 1
- 主要终点
- Number of participants with mutations in the B-RAF oncogene in Langerhans histiocytosis
研究概览
简要总结
Very recent studies indicate that a high percentage of HCL, about 50%, have mutations in the B-RAF oncogene. The development of ultrasensitive methodologies capable of identifying these mutations in bronchoalveolar lavage will represent a significant advance in the diagnosis and treatment of these patients. An undetermined percentage of HCL does not present mutations in B-RAF. Consequently, the deep genetic analysis, through the use of techniques of massive sequencing, can favor the identification of new alterations that contribute to the development of the disease.
We hypothesized that patients with HCL may present a different inflammatory state to healthy subjects or smokers, allowing us to identify new biomarkers.
详细描述
The main objective of this study is to expand the genetic and pathophysiological knowledge of this disease. For this, the following points will be developed:
- Identification of mutations in the B-RAF oncogene in Spanish patients with pulmonary LCHF.
- Development of ultrasensitive genetic analysis methods capable of identifying mutations in B-RAF in bronchoalveolar lavage (BAL) samples.
- To determine if patients with mutations in the B-RAF oncogene present distinct clinical, radiological and / or functional characteristics compared to those with absence of the mutation.
- Characterization of the inflammatory profile of patients with HPCL.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- 未提供
排除标准
- 未提供
结局指标
主要结局
Number of participants with mutations in the B-RAF oncogene in Langerhans histiocytosis
时间窗: Baseline
次要结局
未报告次要终点