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

为了收集有关线粒体疾病的广泛信息，NAMDC设计并 实施了全面的线粒体疾病临床注册，收集了基线临床、 生化和分子遗传数据，以及通过 NAMDC临床纵向研究。NAMDC临床注册中心的总体使命是：更好地 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；促进参加NAMDC和其他实体的临床研究； 并描述了线粒体疾病的自然历史。已有超过425名患者入选。 与美国线粒体疾病基金会(UMDF)合作，覆盖13个NAMDC站点。我们 我还为线粒体疾病创建了具有严格基准的NAMDC研究诊断标准 用于确定的、可能的、可能的或不可能的诊断级别。血液、皮肤和其他组织的样本是 在德文博士的指导下存放在梅奥诊所的NAMDC生物储存库 奥格斯比。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。从这家公司 基础的、面向病人的生产性项目已经萌芽；线粒体的自然历史研究 神经胃肠脑肌病(MNGIE)、阿尔珀斯病和皮尔逊综合征已被 由NAMDC现场调查人员发起。 该项目寻求：扩大NAMDC临床注册和生物库；继续进行 自然史研究包括临床纵向研究，以应用和提炼NAMDC研究 诊断标准；支持MNGIE AHSCT安全研究(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缺乏症的自然史和高级遗传学研究”(项目3)； 针对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.