NAMDC Clinical Registry/Longitudinal Study and Biorepository

为了收集有关线粒体疾病的广泛信息，NAMDC 设计并实现了一个全面的NAMDC线粒体疾病临床注册系统， 它收集基线的临床、生化和分子遗传学数据，并跟踪 通过NAMDC临床纵向研究了解患者的自然病史。整体而言 NAMDC注册中心的任务是：更好地了解线粒体的表型 疾病；实现基因/表型相关性；促进临床研究的登记 在NAMDC和其他实体下；并描述选定线粒体的自然历史 疾病。通过协作，已有超过1379名患者在17个NAMDC站点登记 与联合线粒体疾病基金会(UMDF)合作。向注册表添加的新功能 包括一个远程招聘方案和一个数据挖掘工具，供NAMDC调查人员使用。我们 还创建了NAMDC Research对线粒体疾病的诊断标准 确定的、可疑的或不太可能的诊断级别的基准。血液、尿液样本， 以及其他组织被存入设在梅奥诊所的NAMDC生物储存库。 NAMDC临床注册、研究诊断标准和生物信息库是三大支柱 这为多中心协作的线粒体疾病研究奠定了坚实的基础。 在这个坚实的基础上，以病人为导向的生产性项目已经萌芽：回顾 NAMDC注册数据；4项自然历史研究(丙酮酸脱氢酶复合体(PDC) 缺乏，线粒体神经胃肠脑肌病，阿尔珀斯综合征，和 皮尔逊综合征)；6项调查研究；9项试点研究。这个项目的目的是：扩大 NAMDC临床注册和生物信息库；应用和完善NAMDC研究 诊断标准；描述至少6种特定的线粒体疾病；继续 临床纵向研究；开发新的NAMDC登记范围的自然历史研究； 为分子上未定义的NAMDC注册受试者的基因组测试提供材料(项目 2)；加强与线粒体疾病序列数据资源(MSeqDR)联盟的联系； 支持开发和利用新的线粒体功能分析方法(项目3)； 支持PDC缺陷的高级遗传和新生儿筛查研究(项目4)； 并为胸腺嘧啶核苷脱氧核苷治疗的扩大通路研究确定患者 激酶2缺乏症(项目5)。

To collect information about the wide spectrum of mitochondrial diseases, NAMDC has designed and implemented a comprehensive NAMDC Mitochondrial Disease Clinical Registry, which gathers baseline clinical, biochemical, and molecular genetic data as well as tracks the natural histories of the patients through the NAMDC Clinical Longitudinal study. The overall missions of the NAMDC Registry are to: better understand the phenotypes of mitochondrial diseases; enable genotype/phenotype correlations; facilitate enrollment into clinical studies under NAMDC and other entities; and characterize natural histories of select mitochondrial diseases. More than 1,379 patients have been enrolled across 17 NAMDC sites in collaboration with the United Mitochondrial Disease Foundation (UMDF). New features added to the Registry include a Remote Recruitment program and a data mining tool for NAMDC investigators. We have also created NAMDC Research Diagnostic Criteria for mitochondrial diseases with strict benchmarks for definite, suspected, or unlikely levels of diagnoses. Samples of blood, urine, and other tissues are being deposited into the NAMDC Biorepository housed at the Mayo Clinic. The NAMDC Clinical Registry, Research Diagnostic Criteria, and Biorepository are three pillars that form a strong foundation for multi-center collaborative mitochondrial disease research. From this firm base, productive patient-oriented projects have already sprouted: a review of the NAMDC Registry data; 4 natural history studies (pyruvate dehydrogenase complex (PDC) deficiency, mitochondrial neurogastroIntestinal encephalomyopathy, Alpers syndrome, and Pearson syndrome); 6 survey studies; and 9 pilot studies. This project seeks: to expand the NAMDC Clinical Registry and Biorepository; to apply and refine the NAMDC Research Diagnostic Criteria; to characterize at least 6 specific mitochondrial conditions; to continue the Clinical Longitudinal study; to develop novel NAMDC Registry-wide natural history studies; to provide material for genomic testing of molecularly undefined NAMDC Registry subjects (Project 2); to strengthen links to mitochondrial disease sequence data resource (MSeqDR) consortium; to support development and utilization of new mitochondrial functional assays (Project 3); to support the advanced genetic and newborn screening studies of PDC deficiencies (Project 4); and to identify patients for the expanded access study of deoxynucleoside therapy for thymidine kinase 2 deficiency (Project 5).