文摘
摘要目的:建立一个临床研究网络站点额颞叶大叶性变性(FTLD)谱系障碍和准备新治疗药物的临床试验。
背景:在过去的4年中,ARTFL旨在描述家族和零星FTLD病人在北美。项目1评估零星FTLD病人准备临床试验;项目2评估评估无症状,有症状的家族FTLD (fFTLD)一年为了更好地理解这些疾病和开发新的临床试验结果的措施。
设计/方法:所有参与者进行标准化的电池包括认知测试,功能评价、考试和神经。血液生物标志物(DNA、等离子体、mRNA和PBMCs)收集从国家集中所有参与者和存储库为阿尔茨海默氏症和相关的痴呆症。所有的参与者是FTLD-associated突变的基因分型。家族性参与者随访12个月从最初的评估。
结果:1092名参与者(570名男性(49.6%)已经评估过18北美网站10月15日,2018年。在零星的人群中,573个人被录取(平均年龄:66.2±8.5)。最常见的临床表型bvFTD(30%)和PSP(19%),其次是svPPA(13%)、哥伦比亚广播公司(13%)、和nfvPPA (11%)。诊断组显示明显的差异在认知和功能评估预期的方向。家族性项目已经招收了325名无症状的参与者(FTLD-CDR = 0;家庭成员与已知基因突变或强大的家族病史)和194症状(FTLD-CDR > = 0.5;平均年龄为59.3±10.6年;意味着FTLD-CDR-SB: 6.69)。内表型f-FTLD症状多样,包含电机、行为、精神和认知症状。306人返回了一年的随访评估。
结论:ARTFL人口特征大量FTLD患者临床和转化研究的支持。临床、生物标志物、基因和成像数据是可用的全球调查人员通过http / /rarediseasesnetwork.org/cms/artfl/Healthcare-Professionals/Collaborating。网络越来越多地支持临床试验。
披露:拳击手博士已经收到个人赔偿咨询、担任科学顾问委员会说,与AbbVie或其他活动,Asceneuron, Cellgene, Ipierian, Ionis,詹森,默克公司、诺华、富山和联合银行。拳击手博士持有股票或股票期权在Alector和Aeton疗法。拳击手博士收到NIH的研究支持,τ财团,加州大学治疗阿尔茨海默病的计划,Bluefield项目治愈FTD, Corticobasal变性解决方案,和以下公司:热心,生原体,百时美施贵宝公司,C2N诊断,Cortice生物科学,礼来,论坛制药、基因泰克,罗氏,TauRx。Rosen博士没有披露。Boeve博士接到生原体研究支持。博士豪雅没有披露。科波拉博士已经收到个人赔偿咨询、担任科学顾问委员会,与Regeneron来说,或其他活动。Appleby博士没有披露。Bordelon博士已经收到个人赔偿咨询、担任科学顾问委员会说,与梯瓦制药或其他活动。Brushaber博士没有披露。 Dr. Dickerson has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Merck, Lilly, Biogen, Piramal. Dr. Dickerson has received personal compensation in an editorial capacity for Neuroimage: Clinical; Cortex. Dr. Dickerson has received research support from Biogen. Dr. Domoto-Reilly has nothing to disclose. Dr. Faber has nothing to disclose. Dr. Feldman has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Medscape. Dr. Feldman has received research support from consulting service agreements with UCSD for Tau Rx, Merck, Eisai, Genentech, and Probiodrug (unpaid). Funding to the ADCS for clinical trials with Lilly, Toyama, and Biohaven. Dr. Fields has nothing to disclose. Dr. Fong has nothing to disclose. Dr. Forsberg has nothing to disclose. Dr. Foroud has nothing to disclose. Dr. Ghoshal has nothing to disclose. Dr. Grossman has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with GE Whitney. Dr. Grossman has received personal compensation in an editorial capacity for Neurology. Dr. Grossman has received research support from Biogen. Dr. Graff-Radford has received research support from Eli Lilly, Novartis, Biogen, and AbbVie. Dr. Hsiung has nothing to disclose. Dr. Huey has nothing to disclose. Dr. Kantarci has nothing to disclose. Dr. Kaufer has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Axovant, Takeda, Abbvie. Dr. Kaufer has received research support from Abbvie, Axovant Sciences, Navidea Biopharmaceuticals. Dr. Kerwin has nothing to disclose. Dr. Knopman has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Washington University for the DIAN study. Dr. Knopman has received research support from Biogen Pharmaceuticals and Lilly Pharmaceuticals. Dr. Kornak has nothing to disclose. Dr. Kramer has nothing to disclose. Dr. Litvan has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with AbbVie, Inc.; Toyama Pharmaceuticals ; Biotie/Parkinson Study Group Medical Advisory Board. Dr. Litvan has received personal compensation in an editorial capacity as Chief Editor of Frontiers in Neurology. Dr. Litvan has received research support from AVID Pharmaceuticals, C2N Diagnostics/Abbvie, Inc.; and Bristol-Myers Squibb/Biogen. . Dr. Mackenzie has nothing to disclose. Dr. Mendez has nothing to disclose. Dr. Miller has nothing to disclose. Dr. Onyike has nothing to disclose. Dr. Pantelyat has nothing to disclose. Dr. Potter has nothing to disclose. Dr. Rademakers has nothing to disclose. Dr. Rascovsky has nothing to disclose. Dr. Roberson has nothing to disclose. Dr. Tartaglia has nothing to disclose. Dr. Toga has nothing to disclose. Dr. Weintraub has nothing to disclose.
