The DBA Registry: A Vital Tool for the Study of DBA

DBA注册表：DBA学习的重要工具

• 批准号: 6951192
• 负责人: Jeffrey M Lipton
• 金额: $ 33万
• 依托单位: FEINSTEIN INSTITUTE FOR MEDICAL RESEARCH
• 依托单位国家: 美国
• 财政年份: 2004
• 资助国家: 美国
• 起止时间: 2004-09-30 至 2009-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6951192
• 关键词: Internet; clinical research; congenital aplastic anemia; epidemiology; family genetics; genotype; human data; human subject; human tissue; patient /disease registry; phenotype; prognosis; technology /technique development

DESCRIPTION (provided by applicant): The Diamond Blackfan Anemia Registry (DBAR) is a comprehensive database of patients with the rare inherited bone marrow failure syndrome Diamond Blackfan anemia (DBA), a heterogeneous genetic disorder characterized by pure red cell aplasia, congenital anomalies and a predisposition to cancer. Anemia usually presents in infancy or early childhood and greater than 40% of patients have at least one congenital anomaly. The actuarial cancer risk although increased, is as of yet, undetermined. One of at least three DBA genes has been cloned. Of note, patients with the same genotype often do not manifest the same phenotype. Indeed, "affected" individuals within the same family may vary dramatically as to the degree of anemia, response to corticosteroids, the presence of congenital anomalies and the development of cancer. Prior to the development of the DBAR our knowledge regarding the epidemiology and response to various treatment modalities was determined exclusively from literature reports. For example the extreme toxicity of corticosteroids was only recognized through data obtained from the Registry. As well the ability to do meaningful biologic studies has been hampered by the rarity of the disorder. The objective of this application is to expand and update the DBAR in order to: 1) facilitate investigations into the epidemiology and biology of Diamond Blackfan anemia; 2) provide an accurate phenotype of DBA patients to facilitate genotype- phenotype correlations; 3) provide access of well characterized patients to treatment protocols; 4) provide patients to access to research studies; 5) provide patients with results of research studies; 6) serve as a resource to patients and their doctors to guide diagnostic, therapeutic, an reproductive decisions.

描述（由申请人提供）： Diamond Blackfan贫血注册中心（DBAR）是一个全面的数据库，该数据库是患有罕见的遗传性骨髓衰竭综合征钻石黑芬贫血（DBA），这是一种异质遗传疾病，其特征在于纯红细胞性疾病，先天性异常和易于癌症。 贫血通常出现在婴儿期或幼儿期，超过40％的患者至少有一个先天性异常。 尚未确定的精算癌风险虽然增加，但尚未确定。 至少三个DBA基因之一被克隆。 值得注意的是，具有相同基因型的患者通常不会表现出相同的表型。 的确，同一家族中的“受影响”的个体在贫血程度，对皮质类固醇的反应，先天性异常的存在和癌症的发展时可能会发生巨大变化。 在开发DBAR之前，我们对流行病学和对各种治疗方式的反应的了解仅从文献报告中确定。 例如，仅通过注册表获得的数据才能认识到皮质类固醇的极端毒性。 同样，进行有意义的生物学研究的能力也受到疾病的稀有性的阻碍。 该应用的目的是扩展和更新DBAR，以便以下内容：1）促进对钻石黑芬贫血的流行病学和生物学的调查； 2）提供DBA患者的准确表型，以促进基因型表型相关性； 3）提供良好特征的患者进入治疗方案； 4）为患者提供研究； 5）为患者提供研究结果； 6）作为患者及其医生的资源，以指导诊断，治疗性，生殖决定。