preclinical Testing of Novel Therapies in FA

FA 中新疗法的临床前测试

• 批准号: 8255537
• 负责人: Markus Grompe
• 金额: $ 30.17万
• 依托单位: OREGON HEALTH & SCIENCE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2011
• 资助国家: 美国
• 起止时间: 2011-04-01 至 2015-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8255537
• 关键词: Acute Myelocytic Leukemia; Androgen Receptor; Androgens; Anemia; Biological Assay; Bone Marrow; Cafe-au-Lait Spot; Cause of Death; Cells; Clinical; Congenital Abnormality; Disease; Drug usage; Failure; Fanconi' s Anemia; Functional disorder; Gene Expression; Gene Transduction Agent; Genes; Hematopoiesis; Hematopoietic; Hematopoietic stem cells; Hemorrhage; Human; In Vitro; Knockout Mice; Longevity; Malignant Neoplasms; Marrow; Measures; Mediating; Methods; Microphthalmos; Modeling; Molecular; Mus; Organ; Oxidants; Oxymetholone; Pancytopenia; Patients; Pharmaceutical Preparations; Pluripotent Stem Cells; Preclinical Testing; Radial; Rare Diseases; Resveratrol; Screening procedure; Signal Pathway; Solid; Solid Neoplasm; Squamous cell carcinoma; Stem cells; Superoxide Dismutase; Testing; Therapeutic; Thioctic Acid; Thumb structure; adeno-associated viral vector; analog; cancer prevention; clinically relevant; efficacy testing; gene discovery; gene repair; gene therapy; improved; in vivo; mutant; novel; prevent; progenitor; small molecule; stem; tempol; tumor

FA is a rare disease and about 500 patients with FA are alive in the U.S.A. The 3 main clinical features of FA are birth defects (missing thumb/radius; microphthalmia; cafe-au-lait spots etc.), progressive marrow failure and cancer suscepfibility [1]. In FA. the life span Is severely shortened [2]. The main cause of death is bone marrow failure with the associated complications of anemia, bleeding and infecfion. Another cause of death is cancer, particulariy acute myelogenous leukemia, but also solid tumors, particulariy squamous cell carcinomas [3].

FA 是一种罕见疾病，在美国约有 500 名 FA 患者存活。FA 的 3 个主要临床特征是出生缺陷（拇指/桡骨缺失、小眼球、咖啡斑等）、进行性骨髓衰竭和癌症易感性[1]。在足协。寿命严重缩短[2]。死亡的主要原因是骨髓衰竭以及贫血、出血和感染等相关并发症。另一个死亡原因是癌症，特别是急性髓性白血病，但也有实体瘤，特别是鳞状细胞癌[3]。