ARTFL LEFFTDS Longitudinal Frontotemporal Lobar Degeneration (ALLFTD)

ARTFL LEFFTDS 纵向额颞叶变性 (ALLFTD)

• 批准号: 10228124
• 负责人: ADAM L. BOXER
• 金额: $ 39.39万
• 依托单位: MAYO CLINIC ROCHESTER
• 依托单位国家: 美国
• 财政年份: 2019
• 资助国家: 美国
• 起止时间: 2019-09-15 至 2024-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10228124
• 关键词: Address; Age; Age of Onset; Alzheimer' s Disease; Alzheimer' s disease related dementia; American; Biological; Biological Markers; C9ORF72; Canada; Clinical; Clinical Data; Clinical Sciences; Clinical Trials; Clinical Trials Design; Clinical Trials Network; Collection; Communities; DNA; DNA-Binding Proteins; Data; Data Collection; Data Set; Databases; Deposition; Development; Diagnosis; Disease; Disease Progression; Enrollment; Evaluation; Familial disease; Family; Fostering; Frontotemporal Dementia; Frontotemporal Lobar Degenerations; Funding; Genes; Genetic; Genomics; Goals; Grant; Heterogeneity; Image; Industry; Infrastructure; Inherited; International; Laboratories; Liquid substance; MAPT gene; MRI Scans; Measures; Medical Genetics; Microtubule-Associated Proteins; Molecular Weight; Mutate; Mutation; Natural History; Neurodegenerative Disorders; North America; PGRN gene; Participant; Patients; Peripheral Blood Mononuclear Cell; Phenotype; Plasma; Preparation; Process; Protocols documentation; Publications; Recommendation; Recording of previous events; Registries; Research; Research Personnel; Research Project Grants; Sampling; Scanning; Site; Study Subject; Symptoms; Syndrome; Tissues; United States National Institutes of Health; cohort; data management; data sharing; diagnostic accuracy; effective therapy; frontotemporal degeneration; gene product; genotyped patients; improved; meetings; neuroimaging; neuropathology; novel therapeutics; patient advocacy group; programs; protein aggregation; recruit; repository; tau mutation; Address; Age; Age of Onset; Alzheimer' s Disease; Alzheimer' s disease related dementia; American; Biological; Biological Markers; C9ORF72; Canada; Clinical; Clinical Data; Clinical Sciences; Clinical Trials; Clinical Trials Design; Clinical Trials Network; Collection; Communities; DNA; DNA-Binding Proteins; Data; Data Collection; Data Set; Databases; Deposition; Development; Diagnosis; Disease; Disease Progression; Enrollment; Evaluation; Familial disease; Family; Fostering; Frontotemporal Dementia; Frontotemporal Lobar Degenerations; Funding; Genes; Genetic; Genomics; Goals; Grant; Heterogeneity; Image; Industry; Infrastructure; Inherited; International; Laboratories; Liquid substance; MAPT gene; MRI Scans; Measures; Medical Genetics; Microtubule-Associated Proteins; Molecular Weight; Mutate; Mutation; Natural History; Neurodegenerative Disorders; North America; PGRN gene; Participant; Patients; Peripheral Blood Mononuclear Cell; Phenotype; Plasma; Preparation; Process; Protocols documentation; Publications; Recommendation; Recording of previous events; Registries; Research; Research Personnel; Research Project Grants; Sampling; Scanning; Site; Study Subject; Symptoms; Syndrome; Tissues; United States National Institutes of Health; cohort; data management; data sharing; diagnostic accuracy; effective therapy; frontotemporal degeneration; gene product; genotyped patients; improved; meetings; neuroimaging; neuropathology; novel therapeutics; patient advocacy group; programs; protein aggregation; recruit; repository; tau mutation

ABSTRACT – ARTFL LEFFTDS Longitudinal FTLD: OVERALL SECTION Frontotemporal Lobar Degeneration (FTLD) is the overarching term for a group of neurodegenerative disorders that are believed to be caused by the accumulation of toxic protein aggregates in the CNS, most commonly comprised of one of two major proteins–microtubule associated protein tau and TAR DNA binding protein molecular weight 43 kDa. FTLD is at least as common as Alzheimer's disease (AD) in those under the age of 65. Due to the earlier age of onset and the rapid rate of decline, FTLD is thought to have an even greater impact on the lives of patients and families when compared to AD. At least 20% of all FTLD patients have a dominantly inherited familial disorder (f-FTLD), whereas the remaining patients have a sporadic FTLD syndrome (s-FTLD). The current Advancing Research and Treatment in Frontotemporal Degeneration (ARTFL; U54 NS092089) study enrolls and follows these s-FTLD patients. Approximately 50% of f-FTLD is the result of one of three common mutations: the microtubule associated protein tau (MAPT), progranulin (GRN), or chromosome 9 open reading frame 72 (C9orf72) genes. The current Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects (LEFFTDS; U01 AG045390) study enrolls and follows participants with a known family mutation, while ARTFL also enrolls those with strong family histories but no known mutation. The ARTFL LEFFTDS Longitudinal Frontotemporal Lobar Degeneration (ALLFTD) protocol represents our plan to formalize the merger of the ARTFL and LEFFTDS studies to create an integrated North American research consortium to study FTLD. The ALLFTD program, as implemented through this U19 mechanism, will improve our infrastructure for comprehensive collection and sharing of data through creation of seven cores. We address the main goals recommended by the National Alzheimer's Project Act (NAPA) Steering Committee on the Alzheimer's Disease-Related Dementias (ADRD) focused on FTLD through these cores and two research projects. ALLFTD will support many additional projects that address both the clinical and neuroscientific goals recommended by NAPA ADRD by providing clinical data, scans and biological samples to the scientific community. While there are no effective treatments for any FTLD disorder, increasing numbers of new potential therapies are entering clinical trials. The ALLFTD program's commitment to supporting data collection and sharing with researchers worldwide will foster development of disease-modifying therapies for FTLD.

摘要 - ARTFL LEFFTDS纵向FTLD：整体部分 额颞叶变性（FTLD）是一组神经退行性疾病的总体术语 据信这是由中枢神经系统中有毒蛋白聚集体的积累引起的，最常见的是 完成两种主要蛋白质 - 微管相关蛋白tau和焦油DNA结合蛋白之一 分子量43 kDa。 FTLD至少与年龄段的阿尔茨海默氏病（AD）一样普遍 65。由于发病年龄和下降速度的较早，FTLD被认为更大 与AD相比，对患者和家庭的生活的影响。所有FTLD患者中至少有20％有 主要遗传的家族障碍（F-FTLD），而其余患者具有零星的FTLD 综合征（S-FTLD）。当前的额颞变性研究和治疗（ARTFL； U54 NS092089）研究并跟随这些S-FTLD患者。大约50％的F-FTLD是 三个常见突变之一：微管相关的蛋白质tau（mapt），proginnulin（GRN）或 染色体9开放阅读框架72（C9orf72）基因。当前对家庭的纵向评估 额颞痴呆受试者（LEFFTDS; U01 AG045390）招募并关注参与者 已知的家庭突变，而ARTFL也招募了那些具有较强家族史但没有已知突变的人。 ARTFL LEFFTD纵向额颞Lobar变性（AllFTD）协议代表我们 计划正式化ARTFL和LEFFTDS研究的合并，以创建一个综合的北美 研究FTLD的研究财团。通过该U19机制实施的AllFTD程序将 通过创建七个核心来改善我们的基础架构，以全面收集和共享数据。 我们解决了国家阿尔茨海默氏症计划法（NAPA）指导委员会推荐的主要目标 在阿尔茨海默氏病相关的痴呆症（ADRD）上，以这些核心为FTLD和两个 研究项目。 AllFTD将支持许多针对临床和 NAPA ADRD建议的神经科学目标是通过提供临床数据，扫描和生物样品 科学界。虽然对任何FTLD障碍都没有有效的治疗方法 新的潜在疗法正在进入临床试验。 AllFTD计划对支持数据的承诺 与全球研究人员的收集和共享将促进发展疾病改良的疗法 ftld。