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

描述（由申请人提供）： Diamond Blackfan贫血登记处（DBAR）是一个关于罕见的遗传性骨髓衰竭综合征Diamond Blackfan贫血（DBA）患者的综合数据库，DBA是一种异质性遗传疾病，其特征是纯红细胞再生障碍，先天性异常和癌症易感性。 贫血通常出现在婴儿期或幼儿期，超过40%的患者至少有一种先天性异常。 癌症风险虽然增加，但尚未确定。 至少有三个DBA基因之一已被克隆。 值得注意的是，具有相同基因型的患者通常不表现出相同的表型。 事实上，同一家庭中的“受影响”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方面可能差异很大。 在开发DBAR之前，我们关于流行病学和对各种治疗方式的反应的知识仅从文献报告中确定。 例如，皮质类固醇的极端毒性仅通过从登记处获得的数据得到确认。 此外，由于这种疾病的罕见性，进行有意义的生物学研究的能力也受到了阻碍。 本申请的目的是扩展和更新DBAR，以便：1）促进对Diamond Blackfan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）提供充分表征的患者对治疗方案的访问; 4） 为患者提供研究机会; 5） 向患者提供研究结果; 6） 作为患者及其医生的资源，指导诊断、治疗和生殖决策。

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.