Rare Dis Clin Res Consortia (RDCRC) for Rare Dis Clin Res Network (U54)

为了收集有关广泛的线粒体疾病的信息，NAMDC设计并 实施了一项全面的线粒体疾病临床登记，收集基线临床， 生物化学和分子遗传学数据，并通过 NAMDC临床纵向研究。NAMDC临床登记研究的总体任务是： 了解特定线粒体疾病的表型谱和重叠;使 基因型/表型相关性;促进NAMDC和其他实体下的临床研究的招募; 并描述线粒体疾病的自然史。超过425名患者已入组 在13个NAMDC站点与联合线粒体疾病基金会（UMDF）合作。我们 还为线粒体疾病制定了NAMDC研究诊断标准，并制定了严格的基准 明确的，可能的，可能的，或不太可能的诊断水平。血液，皮肤和其他组织的样本， 在迪文博士的指导下，将其存放在位于马约诊所的NAMDC生物储存库中 奥格尔斯比NAMDC临床登记、研究诊断标准和生物储存库是三大支柱 这为多中心协作线粒体疾病研究奠定了坚实的基础。从这家公司 基础的、富有成效的、以病人为导向的项目已经萌芽;线粒体的自然史研究 神经胃肠脑肌病（MNGIE），Alpers病和Pearson综合征已经被 由NAMDC研究中心研究者发起。 该项目旨在：扩大NAMDC临床登记和生物储存库;继续进行 自然史研究，包括临床纵向研究，以应用和完善NAMDC研究 诊断标准;支持MNGIE AHSCT安全性研究（MASS，项目2）;加强与 线粒体疾病序列数据资源（MSeqDR）联盟;并支持新的研究项目 包括“PDC缺乏症的自然历史及先进遗传学研究”（项目3）;以及 线粒体疾病的营养补充剂。

To collect information about the wide spectrum of mitochondrial diseases, NAMDC has designed and implemented a comprehensive 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 Clinical Registry are to: better understand the spectrum and overlap of phenotypes for specific mitochondrial diseases; enable genotype/phenotype correlations; facilitate enrollment into clinical studies under NAMDC arid other entities; and characterize the natural histories of mitochondrial diseases. More than 425 patients have been enrolled across 13 NAMDC sites in collaboration with the United Mitochondrial Disease Foundation (UMDF). We have also created NAMDC Research Diagnostic Criteria for mitochondrial diseases with strict benchmarks for definite, probable, possible, or unlikely levels of diagnoses. Samples of blood, skin, and other tissues are being deposited into the NAMDC Biorepository housed at the Mayo Clinic under the direction of Dr. Devin Oglesbee. 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; natural history studies on mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), Alpers disease, and Pearson syndrome have been initiated by NAMDC site investigators. This project seeks: to expand the NAMDC Clinical Registry and Biorepository; to continue to on-going natural history studies including the Clinical Longitudinal study, to apply and refine the NAMDC Research Diagnostic Criteria; to support the MNGIE AHSCT Safety Study (MASS, Project 2); to strengthen links to mitochondrial disease sequence data resource (MSeqDR) consortium; and to support new research projects including the "Natural History and Advanced Genetic Studies of PDC Deficiency" (Project 3); and the studies of nutritional supplements for mitochondrial diseases.