Natural History of Rare Genetic Steroid Disorders

描述（由申请人提供）：一个由研究者、机构和患者支持团体组成的联盟将组成一个罕见疾病临床研究网络，专注于以类固醇生成缺陷为特征的多种疾病。我们将研究这些罕见疾病的纵向历史，并确定身高，生育能力和性别的治疗结果。威尔医学院、洛克菲勒大学、哥伦比亚大学、德克萨斯大学西南医学中心、魁北克大学、德布罗塞斯医院（里昂）和FMUSP临床医院（圣保罗）的研究人员之间的长期非正式合作将促进建立一个富有成效的合作研究网络，利用每位研究人员的丰富经验。威尔、洛克菲勒的临床研究中心和德克萨斯大学西南医学中心将参与。该联盟的每一位研究者都对一大批患有影响类固醇合成的特定遗传缺陷的患者进行了多年的跟踪调查，包括这些疾病从产前到死亡的自然历史。建立一个存储和管理数据库将为正在进行的研究提供一个框架，使保存和使用由每种疾病专家收集的大量临床数据成为可能。此外，这些疾病的标准化临床描述模板的设计将允许前瞻性研究，可以为受影响的个体或有风险的个体提供公开登记。我们的研究小组包括研究人员，他们已经确定了每一种疾病的分子遗传缺陷，在已知的情况下，他们拥有专门用于识别新突变的实验室。临床和分子遗传信息的结合将提高医疗保健的标准，并可能根据对这些疾病的自然史和分子遗传基础的详细了解，开发出新的治疗方法。我们计划的重要组成部分是：(1)建立临床研究网络，与DTCC合作，汇集我们网站的数据并分析这些数据；(2)教育年轻的研究人员管理和类固醇疾病的临床研究；(3)加强我们与患者支持团体的联系，使受影响或有风险的个人能够获得新的投入和最佳的医疗护理。

DESCRIPTION (provided by applicant): A consortium of investigators, institutions, and patient support groups will constitute a Rare Disease Clinical Research Network focused on a diverse group of disorders characterized by defects in steroidogenesis. We will study the longitudinal history of these rare disorders and determine the outcome of treatment on height, fertility and gender. Long-standing informal collaboration between investigators at Weill Medical College, Rockefeller University, Columbia University, the University of Texas Southwestern Medical Center, the University of Quebec, Hospital Debrosses (Lyons), and the Hospital das Clinicas da FMUSP (Sao Paulo) will facilitate the creation of a productive cooperative research network that draws on the extensive experience of each investigator. Clinical Research Centers at Weill, Rockefeller, and the University of Texas Southwestern Medical Center will participate. Each investigator in the consortium has followed a large group of patients with a specific genetic defect affecting steroid synthesis over many years, encompassing the natural history of these diseases from prenatal life to death. Creation of a storage and management database will constitute a scaffold for ongoing research, enabling the preservation and use of this large body of clinical data assembled by experts in each disorder. Moreover, design of templates for a standardized clinical description of these disorders will permit prospective studies which can offer open enrollment to affected individuals or individuals at risk. Our research group includes the investigators who have identified the molecular genetic defect for each disorder, where known, and who maintain laboratories dedicated to the identification of new mutations. The combination of clinical and molecular genetic information will raise the standard of medical care and may permit development of novel treatments based on detailed knowledge of the natural history and molecular genetic basis of these disorders. Important elements of our plan are (1) to establish the clinical research network which pools data from our sites in cooperation with the DTCC and analyzes this data, (2) to educate young investigators in the management and clinical research of steroid disorders, and (3) to strengthen our connections with patient support groups to enable individuals affected or at risk to have new kinds of input and access to optimal medical care.