Rare Diseases CRC: Urea Cycle Disorders

描述（由申请人提供）：我们建议在华盛顿，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/乔治敦大学医学中心（GUMC）儿科综合临床研究中心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。该RDCRC将由5个学术机构组成的网络组成，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10名研究者组成的多学科团队，涉及以下专业：遗传学、代谢、发育儿科学、临床药理学、神经学、心理学、生物统计学和神经影像学。Mark L.巴特肖医学博士，CNMC MRDDRC主任将担任主要研究者; Mendel Tuchman，M.D.，CNMC PCRC主任将担任联合主任。RDCRC的主要目标是：1）建立UCD诊断，治疗和临床研究的区域中心的登记和全国范围的网络; 2）进行纵向研究，以确定UCD的自然史; 3）进行研究新药（IND）的临床试验，N-氨基甲酰-L-谷氨酸盐，用于治疗这些疾病; 4）开展一个示范/试点项目，以开发一种新的方法，用于测量UCD体内的尿素生成，这对患者的诊断和分类以及治疗效果的评估至关重要; 5）培训研究生，儿科住院医师，临床研究员和初级教师在先天性代谢缺陷领域;和6）开发和维护UCD网站内容，将：（a）包括关于诊断和治疗的医疗保健提供者的指南;（B）向公众提供有关主要中心咨询和治疗的信息;（c）为感兴趣的研究人员提供最近科学文献的链接。这一举措将密切进行。 与国家尿素循环疾病基金会（NUCDF）合作，该基金会是这组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.