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

罕见疾病临床研究联盟 (RDCRC) 的罕见疾病临床研究网络 (U54)

• 批准号: 9145795
• 负责人: MICHIO HIRANO
• 金额: $ 24.85万
• 依托单位: COLUMBIA UNIVERSITY HEALTH SCIENCES
• 依托单位国家: 美国
• 财政年份: 2014
• 资助国家: 美国
• 起止时间: 2014-09-01 至 2019-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9145795
• 关键词: Alpers' Syndrome; Attitude; Benchmarking; Biochemical Genetics; Biological; Blood specimen; Clinic; Clinical; Clinical Data; Clinical Research; Collaborations; Counseling; DNA; Data; Data Set; Deposition; Diagnosis; Diagnostic; Diagnostics Research; Disease; Disease Progression; Enrollment; Ensure; Etiology; Foundations; Funding; Future; Genetic study; Genome; Genotype; Goals; Grant; Housing; Instruction; Investigation; Link; Longitudinal Studies; Medical Genetics; Mission; Mitochondria; Mitochondrial DNA; Mitochondrial Diseases; Molecular Genetics; Natural History; Nuclear; Oocytes; Patients; Phenotype; Pilot Projects; Pyruvate Dehydrogenase Complex Deficiency Disease; Recruitment Activity; Registries; Research; Research Personnel; Research Project Grants; Resources; Sampling; Site; Skin; Surveys; Syndrome; Therapeutic Trials; Tissues; United States National Institutes of Health; base; biobank; design; dietary supplements; exome; follow-up; genome sequencing; insight; mitochondrial genome; outcome forecast; patient oriented; prevent; research study; safety study

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.

为了收集有关线粒体疾病广泛的信息，NAMDC已设计和 实施了全面的线粒体疾病临床注册中心，该注册表收集基线临床， 生化和分子遗传数据以及通过 NAMDC临床纵向研究。 NAMDC临床注册表的总体任务是：更好 了解特定线粒体疾病的表型的频谱和重叠；使能够 基因型/表型相关性；促进NAMDC干旱其他实体下的临床研究的入学； 并表征线粒体疾病的自然历史。已招募了425多名患者 在13个NAMDC站点与线粒体疾病基金会（UMDF）合作。我们 还创建了具有严格基准的线粒体疾病的NAMDC研究诊断标准 确定，可能，可能或不太可能的诊断水平。血液，皮肤和其他组织的样本是 被沉积在Devin博士的指导下，沉积在梅奥诊所的NAMDC生物座 Oglesbee。 NAMDC临床注册中心，研究诊断标准和生物座是三个支柱 这为多中心协作线粒体疾病研究构成了强大的基础。来自这家公司 基础，生产性的以患者为导向的项目已经发芽；线粒体的自然史研究 神经胃肠道脑病（MNGIE），Alpers病和Pearson综合征已是 由NAMDC网站调查人员发起。 该项目寻求：扩展NAMDC临床注册表和生物座位；继续进行 自然史研究包括临床纵向研究，应用和完善NAMDC研究 诊断标准；支持MNGIE AHSCT安全研究（MASS，项目2）；加强链接 线粒体疾病序列数据资源（MSEQDR）财团；并支持新的研究项目 包括“ PDC缺乏症的自然史和高级遗传研究”（项目3）；和研究 线粒体疾病的营养补充剂。