文摘
摘要目的:描述临床、生化和遗传特性的病人参加北美线粒体疾病财团(NAMDC)注册表
背景:线粒体疾病是一组高度异质性疾病。虽然MD很少如果视为单一的疾病实体,作为一个群体,他们代表一个最常见的遗传性代谢疾病。罕见的疾病登记是不可或缺的工具,允许代坚实的临床数据研究人员,临床医生、政府和行业
设计/方法:自2011年以来,超过一千患者的线粒体疾病已经在NAMDC注册表中注册。主题已经登记根据他们的诊断(临床和生化)。大量的疾病表现的信息,生化/组织学结果,收集和分子遗传缺陷从16个网站通过一个安全的网络系统在美国和加拿大
结果:截至2017年5月,999名患者有足够的数据分析。发病的年龄范围从婴儿到成年。大多数病人的诊断没有落入“规范综合症”类别;最常见的诊断是multi-systemic障碍(n = 157)。在规范综合症最常见的是线粒体encephalomyopathy乳酸酸中毒和类似中风发作(看见),利综合征,慢性进行性外部眼肌麻痹(CPEO)。分子诊断是达到56%的群体。大多数患者基因诊断在线粒体DNA突变。核DNA突变被发现在179名患者,绝大多数单基因突变的病人
结论:综述的特点,大量的病人参加NAMDC注册和在北美反映线粒体疾病的异质性。考虑到不断增长的MD患者临床治疗干预的证据,一个完整的、准确的医学注册表代表了一个关键的一步促进规划和招聘临床试验
研究支持:这种北美线粒体疾病联盟(NAMDC)研究是由国家卫生研究院授予U54 NS078059。NAMDC是NCATS罕见疾病临床研究网络的一部分(RDCRN)和资助通过NCATS之间的协作,研究所、研究所和ODS联合资助NIH和办公室。RDCRN是办公室的一项罕见的疾病研究(ORDR)。这项工作也由j·威拉德和爱丽丝的资助美国万豪的基础
披露:巴萨没有披露博士。厄尔博士没有披露。Schoenaker博士没有披露。名叫Emmanuele博士没有披露。DiMauro博士没有披露。科恩博士已经收到个人赔偿咨询、担任科学顾问委员会说,与隐形Biotheraputics或其他活动。Karaa博士没有披露。Vladutiu博士没有披露。哈斯博士已经收到个人赔偿咨询、担任科学顾问委员会说,与隐形BioTherapeutics或其他活动。哈斯博士接到隐形BioTherapeutics研究支持。 Dr. Haas has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Stealth BioTherapeutics. Dr. Haas has received research support from Stealth BioTherapeutics. Dr. Van Hove has nothing to disclose. Dr. Scaglia has nothing to disclose. Dr. Parikh has nothing to disclose. Dr. Bedoyan has nothing to disclose. Dr. DeBrosse has nothing to disclose. Dr. Gavrilova has nothing to disclose. Dr. Saneto has nothing to disclose. Dr. Enns has nothing to disclose. Dr. Stacpoole has nothing to disclose. Dr. Ganesh has nothing to disclose. Dr. Larson has nothing to disclose. Dr. Zolkipli-Cunningham has nothing to disclose. Dr. Falk has nothing to disclose. Dr. Goldstein has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Stealth BioTherapeutics. Dr. Goldstein has received research support from Stealth BioTherapeutics. Dr. Tarnopolsky has nothing to disclose. Dr. Camp has nothing to disclose. Dr. Krotoski has nothing to disclose. Dr. Engelstad has nothing to disclose. Dr. Rosales has nothing to disclose. Dr. Kriger has nothing to disclose. Dr. Buchsbaum has nothing to disclose. Dr. Thompson has nothing to disclose. Dr. Hirano has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Meves Pharmaceuticals Inc., Stealth BioTherapeutics Inc, and Sarepta Therapeutics Inc.
