DEVELOPING A NORTH AMERICAN MITOCHONDRIAL DISEASE CONSORTIUM (NAMDC)

发展北美线粒体疾病联盟 (NAMDC)

基本信息

批准号：
7938596
负责人：
SALVATORE DIMAURO
金额：
$ 49.27万
依托单位：
COLUMBIA UNIVERSITY HEALTH SCIENCES
依托单位国家：
美国
项目类别：
财政年份：
2009
资助国家：
美国
起止时间：
2009-09-30 至 2012-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/7938596
关键词：
Address Affect Allogenic American Area Autopsy Biometry Biopsy Biopsy Specimen Canada Clinic Clinical Clinical Investigator Clinical Trials Coenzyme Q10 Collaborations Crossover Design DNA Data Set Defect Diagnostic Disease Double-Blind Method Drug or chemical Tissue Distribution Educational process of instructing Endowment Epidemiologic Studies Family Fibroblasts Florida Foundations Future General Practitioners Genetic Genetic Heterogeneity Goals Individual Information Systems Inherited Institution Laboratories Medicine Mexico Mitochondria Mitochondrial DNA Mitochondrial Diseases Muscle Mutate Mutation Natural History North America Nuclear Organelles Pathogenesis Patients Phase Physicians Randomized Randomized Clinical Trials Rare Diseases Research Research Infrastructure Research Personnel Respiratory Chain Role Sampling Secure Serum Skin Statistical Methods Stem cell transplant Structure System Therapy Clinical Trials Time Tissue Banking Tissue Banks Tissue Sample Tissues Translational Research United States National Institutes of Health Universities Urine base biobank cost data management design epidemiology study human disease innovation interest meetings mitochondrial DNA mutation patient advocacy group patient registry statistical center wasting

项目摘要

DESCRIPTION (provided by applicant): DEVELOPING A NORTH AMERICAN MITOCHONDRIAL DISEASE CONSORTIUM This application addresses one broad Challenge Area, (07) Enhancing Clinical Trials (07-OD(ORDR)-102: Rare Disease Genetic Patient Registry. By most epidemiological studies, primary mitochondrial disorders, defined as inherited defects of the mitochondrial respiratory chain (RC), are rare diseases (<200,000 affected individuals in the US) due to primary mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA). Mitochondrial diseases are among the most clinically heterogeneous conditions because mitochondria are ubiquitous organelles and the expression of disorders due to mtDNA mutations depends on the proportion and tissue distribution of mutated mtDNAs. Thus, mitochondrial diseases are baffling to general practitioners, scary to patients and families, and generally misunderstood despite the organizational and teaching efforts of the patients advocacy group, the United Mitochondrial Disease Foundation (UMDF). Together with their rarity, the clinical and genetic heterogeneity of mitochondrial diseases has hindered natural history studies and rigorous clinical trials. In no other area of medicine is the need for a North American patient registry more critical. This application aims at establishing the infrastructure needed to launch a mitochondrial disease patient registry, biorepository, and a North American Mitochondrial Disease Consortium (NAMDC) with the support of UMDF. The NAMDC will feature advanced data management systems and statistical design capabilities provided by the Statistical Analysis Center (SAC) in the Department of Biostatistics at Columbia University. This structure will be the indispensable basis for future collaborative studies of epidemiology, natural history, therapeutic trials, as well as in-depth research on pathogenesis. As research on the mitochondrial role in human diseases progresses at a very rapid pace, the time is ripe for the establishment of a North American Mitochondrial Disease Consortium and patient registry, which will provide infrastructure for translational research and prepare the ground for rigorous natural history studies and therapeutic trials that are sorely needed for these generally devastating disorders.

描述（由申请人提供）：开发北美线粒体疾病联盟本申请解决了一个广泛的挑战领域，(07) 加强临床试验 (07-OD(ORDR)-102：罕见疾病遗传患者登记。根据大多数流行病学研究，原发性线粒体疾病被定义为遗传缺陷线粒体呼吸链 (RC) 的主要突变是罕见疾病（美国受影响人数<200,000）线粒体 DNA (mtDNA) 或核 DNA (nDNA) 线粒体疾病是临床上最异质的疾病之一，因为线粒体是普遍存在的细胞器，并且 mtDNA 突变引起的疾病的表达取决于突变 mtDNA 的比例和组织分布。尽管患者倡导团体——线粒体联合组织做出了组织和教学努力，但这些内容让全科医生感到困惑，让患者和家属感到恐惧，并且普遍被误解疾病基金会（UMDF）。线粒体疾病的临床和遗传异质性以及其罕见性阻碍了自然史研究和严格的临床试验。在医学的其他领域中，对北美患者登记的需求最为迫切。该应用程序旨在在 UMDF 的支持下建立启动线粒体疾病患者登记处、生物样本库和北美线粒体疾病联盟 (NAMDC) 所需的基础设施。 NAMDC 将采用哥伦比亚大学生物统计系统计分析中心 (SAC) 提供的先进数据管理系统和统计设计功能。该结构将成为未来流行病学、自然史、治疗试验以及发病机制深入研究合作研究不可或缺的基础。随着线粒体在人类疾病中作用的研究进展非常快，建立北美线粒体疾病联盟和患者登记处的时机已经成熟，这将为转化研究提供基础设施，并为严格的自然历史研究奠定基础以及这些普遍具有破坏性的疾病急需的治疗试验。