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.

为了收集有关广泛线粒体疾病的信息，NAMDC 设计并 实施了全面的线粒体疾病临床登记，收集基线临床、 生化和分子遗传数据，并通过跟踪患者的自然史 NAMDC 临床纵向研究。 NAMDC 临床注册中心的总体使命是： 了解特定线粒体疾病表型的谱系和重叠；使能够 基因型/表型相关性；促进 NAMDC 和其他实体的临床研究注册； 并描述线粒体疾病的自然史。已有超过 425 名患者入组 与联合线粒体疾病基金会 (UMDF) 合作，覆盖 13 个 NAMDC 站点。我们 还制定了具有严格基准的 NAMDC 研究线粒体疾病诊断标准 确定的、可能的、可能的或不太可能的诊断级别。血液、皮肤和其他组织样本 在 Devin 博士的指导下被存入梅奥诊所的 NAMDC 生物储存库 奥格尔斯比。 NAMDC 临床注册、研究诊断标准和生物样本库是三大支柱 这为多中心协作线粒体疾病研究奠定了坚实的基础。来自这家公司 基础、富有成效的以患者为导向的项目已经萌芽；线粒体的自然历史研究 神经胃肠性脑肌病 (MNGIE)、Alpers 病和 Pearson 综合征 由 NAMDC 现场调查员发起。 该项目旨在： 扩大 NAMDC 临床注册和生物样本库；继续进行中 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 安全研究（MASS，项目 2）；加强联系 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缺陷的自然历史和高级遗传学研究”（项目3）；和研究 线粒体疾病的营养补充剂。