Dysregulation of Hematopoiesis in Fanconi Anemia
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 213
- 试验地点
- 1
- 主要终点
- Loss of function analyses
研究概览
简要总结
RATIONALE: Analyzing tissue and blood samples from healthy volunteers or patients with Fanconi anemia, myelodysplasia, myeloproliferative disorders, or myeloma in the laboratory may help doctors learn more about the causes of blood cancers.
PURPOSE: The purpose of this study is to analyze in the laboratory blood and bone marrow cells from healthy volunteers or patients with Fanconi anemia, myeloproliferative disorders, or myeloma.
详细描述
OBJECTIVES:
- Identify the specific molecular function of the Fanconi anemia (FA) complementing gene products in hematopoietic progenitor cells from patients and normal volunteers.
- Identify functional defects in hematopoietic stromal cells, including macrophages, from patients with FA, and selected blood cancers as well as normal volunteers.
OUTLINE: Peripheral blood mononuclear leukocytes, skin fibroblasts, and marrow fibroblasts are collected for loss-of-function and gain-of-function analysis related to the Fanconi anemia complementing gene.
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
- 1 Year 至 55 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- 未提供
排除标准
- 未提供
结局指标
主要结局
Loss of function analyses
时间窗: Duration of the study
Identification of functional defects in Fanconi anemia hematopoietic stromal cells
时间窗: Duration of the study
Microsequencing of unique proteins
时间窗: Duration of the study
Affirmation that the block points identified are recapitulated in progenitor cells from peripheral blood
时间窗: Duration of the study
Proteins binding to Fanconi anemia, complementation group C (FACC) gene-product by affinity chromatography of nuclear and whole cell lysates of normal cells
时间窗: Duration of the study
Screening of proteins binding to FACC gene-product using monoclonal antibodies specific to signal transduction and cell cycle proteins
时间窗: Duration of the study
Location of specific downstream block point imposed by antisense molecules using antibodies specific to signal transduction, cell cycle, or repair proteins for the FACC protein
时间窗: Duration of the study
次要结局
未报告次要终点
研究者
Laura Newell
Assistant Professor
OHSU Knight Cancer Institute