RARE DISEASES CRC: UREA CYCLE DISORDERS

描述(由申请人提供)：我们建议在华盛顿特区的儿童国家医学中心(CNMC)建立一个罕见疾病临床研究中心(RDCRC)。RDCRC将得到CNMC/乔治城大学医学中心(GUMC)的儿科综合临床研究中心(GUMC)及其智力低下和发育障碍研究中心(MRDDRC)的支持。RDCRC的统一临床主题是尿素循环障碍(UCD)的研究。RDCRC将由5个学术机构组成网络，每个机构都有GCRC/MRDDRC[CNMC/GUMC、费城儿童医院、范德比尔特大学、贝勒医学院和加州大学洛杉矶分校]。拟议的RDCRC将由一个由以下专业的10名研究人员组成的多学科团队组成：遗传学、新陈代谢、发育儿科学、临床药理学、神经学、心理学、生物统计学和神经成像。CNMC MRDDRC主任Mark L.Batshaw医学博士将担任首席调查员，CNMC中期审查委员会主任Mendel Tuchman医学博士将担任联席主任。RDCRC的主要目标是：1)建立UCD诊断、治疗和临床研究区域中心的注册和全国网络；2)进行纵向研究以确定UCD的自然病史；3)进行治疗这些疾病的研究新药(IND)的临床试验；4)进行示范/试点项目，以开发一种测量UCD体内尿失禁的新方法，这对UCD的诊断和分类以及治疗效果的评估将是重要的；5)培训研究生、儿科住院医生、临床研究员和初级教员在先天代谢错误领域；以及6)开发和维护UCD网站内容，其中将：(A)包括卫生保健提供者关于诊断和治疗的指南；(B)向公众提供有关主要中心咨询和治疗的信息；以及(C)为感兴趣的研究人员提供最新科学文献的链接。这项倡议将在近距离进行。与国家尿素循环病基金会(NUCDF)合作，NUCDF是这类疾病的主要公共宣传组织。

DESCRIPTION (provided by applicant): We propose to establish a Rare Disease Clinical Research Center (RDCRC) at the Children's National Medical Center (CNMC) in Washington, D.C. The RDCRC will draw support from both the Pediatric General Clinical Research Center at CNMC/Georgetown University Medical Center (GUMC) as well as its Mental Retardation and Developmental Disabilities Research Center (MRDDRC). The unifying clinical theme of the RDCRC is the study of urea cycle disorders (UCD). This RDCRC will consist of a network of 5 academic institutions, each of which has GCRC/MRDDRCs [CNMC/GUMC, Children's Hospital of Philadelphia, Vanderbilt University, Baylor Medical Collage and University of California at Los Angeles]. The proposed RDCRC will comprise a multidisciplinary team of 10 investigators in the following specialties: Genetics, Metabolism, Developmental Pediatrics, Clinical Pharmacology, Neurology, Psychology, Biostatistics, and Neuroimaging. Mark L. Batshaw, M.D., the Director of the CNMC MRDDRC, will serve as Principal Investigator; and Mendel Tuchman, M.D., Director of the PCRC at CNMC, will serve as Co-Director. The primary goals of the RDCRC are to: 1) Establish a registry and nation-wide network of regional centers for the diagnosis, treatment and clinical research in UCD; 2) Conduct a longitudinal study to determine the natural history of UCD; 3) Conduct a clinical trial of an investigational new drug (IND), N-carbamyI-L-glutamate, for treatment of these disorders; 4) Conduct a demonstration/pilot project to develop a novel method for measuring in vivo ureagenesis in UCD that will be important for diagnosis and classification of patients and for evaluation of treatment efficacy; 5) Train graduate students, pediatric residents, clinical fellows and junior faculty members in the field of inborn errors of metabolism; and 6) Develop and maintain UCD website content that will: (a) include guidelines for health care providers regarding diagnosis and treatment; (b) provide information to the lay public regarding consultation and treatment at major centers; and (c) provide links to recent scientific literature for interested investigators. This initiative will be undertaken in close. collaboration with the National Urea Cycle Disease Foundation (NUCDF), the leading public advocacy organization for this group of diseases.