NATURAL HISTORY OF RARE GENETIC STEROID DISORDERS

罕见遗传类固醇疾病的自然史

• 批准号: 7167054
• 负责人: MARIA I. NEW
• 金额: $ 115.65万
• 依托单位: ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
• 依托单位国家: 美国
• 财政年份: 2005
• 资助国家: 美国
• 起止时间: 2005-08-01 至 2006-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7167054
• 关键词: clinical research; cooperative study; human subject; inborn metabolism disorder; orphan disease /drug; pathologic process; patient oriented research; steroid metabolism disorder

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.

描述（由申请人提供）：研究人员，机构和患者支持小组组成的财团将构成一个罕见的临床研究网络，该网络着重于以类固醇生成中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，医院DeBrosses（Lyons）和医院Das Clinicas da Fmusp（Sao Paulo）之间的研究人员将长期存在非正式合作。威尔，洛克菲勒和德克萨斯大学西南医学中心的临床研究中心将参加。财团中的每个研究者都跟踪了一大批患有特定遗传缺陷的患者，这些患者多年来影响类固醇的合成，涵盖了这些疾病的自然病史，从产前生命到死亡。存储和管理数据库的创建将构成正在进行的研究的脚手架，从而能够保存和使用每种疾病专家组装的大量临床数据。此外，对这些疾病的标准化临床描述的模板设计将允许前瞻性研究，可以为受影响的个人或有危险的个人提供公开入学。我们的研究小组包括已经鉴定出已知疾病的分子遗传缺陷的研究人员，并维持致力于鉴定新突变的实验室。临床和分子遗传信息的结合将提高医疗护理的标准，并可以基于对这些疾病的自然史和分子遗传基础的详细知识来开发新的治疗方法。我们计划的重要要素是（1）建立临床研究网络，该网络与DTCC合作从我们的网站汇集数据并分析这些数据，（2），以教育年轻的研究人员在类固醇疾病的管理和临床研究中进行教育，（3）以加强我们与患者支持小组的联系，以使患者受到影响或有能力获得最佳医疗保健的风险，以提供最佳的医疗保健，以获得最佳的医疗保健。