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国家儿童医学中心（CNMC）建立一个罕见病临床研究中心（RDCRC）， RDCRC将得到CNMC/乔治城大学医学中心（GUMC）儿科普通临床研究中心以及其智力迟钝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。这个RDCRC将由5个学术机构组成，每个学术机构都有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将包括一个由以下专业的10名研究人员组成的多学科团队：遗传学，代谢，发育儿科学，临床药理学，神经病学，心理学，生物统计学和神经影像学。Mark L. Batshaw，医学博士，CNMC MRDDRC主任，将担任首席研究员；Mendel Tuchman，医学博士，CNMC PCRC主任，将担任联席主任。RDCRC的主要目标是：1)为UCD的诊断、治疗和临床研究建立一个注册和全国范围的区域中心网络；2)进行纵向研究，确定UCD的自然历史；3)开展临床试验的新药（IND）， n -氨基淀粉- l -谷氨酸，以治疗这些疾病；4)开展示范/试点项目，开发一种新的UCD体内尿变性测量方法，对患者的诊断和分类以及治疗效果的评估具有重要意义；5)培养先天性代谢错误领域的研究生、儿科住院医师、临床研究员和初级教员；6)开发和维护UCD网站内容，这些内容将：(a)包括医疗保健提供者关于诊断和治疗的指导方针；(b)向公众提供有关主要中心的咨询和治疗的信息；(c)为感兴趣的研究者提供最新科学文献的链接。这项倡议将密切进行。与国家尿素循环疾病基金会（NUCDF）合作，该基金会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.