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。
背景:推进研究和治疗额颞叶大叶性变性(ARTFL)联盟旨在(1)描述北美人口FTLD病人准备临床试验治疗治疗和2)家族FTLD纵向变化特征(ffTLD)一年,一个典型的试验持续时间。
设计/方法:参与者都是零星的FTLD谱系障碍,症状包括bvFTD, CBS, FTD-ALS, nfvPPA, PSP,或svPPA(项目1)或与fFTLD的风险或症状可能常染色体显性遗传综合征,不管是否有已知的潜在变异(项目2)。ARTFL LEFFTDS项目密切相关,共享一个共同的基础设施和评估。所有参与者接受临床神经学检查,神经心理测试、病史、抽血进行生物标志物收集和调查的生活方式因素,自身免疫性疾病的历史,对临床试验的态度参与。家族性参与者换取随访一年。无症状的家庭成员也接受核磁共振成像。所有ARTFL参与者是FTLD-associated突变的基因分型。
结果:我们报告的特点468(239女性(51%))参与者注册超过15网站2016年9月通过。221个人零星FTLD参加项目1(平均年龄66.2岁(范围34 - 89))是最常见的诊断bvFTD (24.9%)、PSP(23.8%),和svPPA±bvFTD (17.1%)。在bvFTD和PSP CDR-SB分数高于svPPA;MDS-UPDRS最高在PSP > > bvFTD > > svPPA(正常)。项目2招收了73名症状(平均年龄58.4岁;意味着CDR-SB: 5.78)和174无症状(平均年龄48.2;fFTLD意味着CDR-SB: 0.03)。
结论:ARTFL积极招收参加者在北美零星的和家庭FTLD的特点。临床、生物标志物、基因和成像数据从ARTFL和LEFFTDS全世界很快就会提供给调查人员。
研究支持:研究所和NCATS U54NS092089通过罕见疾病临床研究网络
披露:拳击手博士已经收到个人活动与Abbvie补偿,Asceneuron,詹森,默克公司咨询。Rosen博士没有披露。Boeve已收到博士研究通用电气医疗集团的支持,论坛制药、诊断和Axovant C2N。博士豪雅没有披露。科波拉博士没有披露。迪克森博士已经收到个人补偿活动与默克公司顾问。迪克森博士已经收到了个人在一篇社论中补偿能力的实验:临床。Bordelon博士已经收到个人补偿活动梯瓦制药、Lundbeck公司公司,它是一家和看杂志文章审查作为一个演讲者,科学advisoary委员会成员或扬声器局或文章审查。Conwit博士没有披露。Dheel博士没有披露。 Dr. Faber has nothing to disclose. Dr. Feldman has received personal compensation for activities with Merck, Eli Lilly and Arena through UBC service agreements as a consultative. Dr. Feldman has also served as a member of safety and diagnostic monitoring committees for Eisai and Genentech Banner. Dr. Fields has nothing to disclose. Dr. Fong has nothing to disclose. Dr. Foroud has nothing to disclose. Dr. Ghoshal has nothing to disclose. Dr. Graff-Radford has received personal compensation for activities with Cytox. Dr. Grossman has received personal compensation for activities with Avid. Dr. Grossman has received personal compensation in an editorial capacity for Neurology. Dr. Grossman has received research support from BMS. Dr. Hsiung has received research support from Baxter, Bristol-Myers Squibb, and TauRx, and has previously participated in clinical trials by Elan, GlaxoSmithKline, Dr. Huey has nothing to disclose. Dr. Irwin has nothing to disclose. Dr. Katarci has received royalty payments from Takeda. Dr. Kaufer has received personal compensation for activities with Janssen Research and Development, Takeda, Zinfandel, and Axovant. Dr. Kaufer as received research support from Janssen Research and Development. Dr. Karydas has nothing to disclose. Dr. Knopman has received personal compensation for activities with Lundbeck Pharmaceuticals.Dr. Knopman has received research support from Lilly Pharmaceuticals, Biogen and TauRX. Dr. Kornak has nothing to disclose. Dr. Kramer has nothing to disclose. Dr. Kukull has nothing to disclose. Dr. Litvan has received personal compensation from Pfizer/Michael J Fox Foundation, Biotie/Parkinson Study Group,Cynapsus, Lundbeck and Biogen. Dr. Mackenzie has nothing to disclose. Dr. Mendez has received personal compensation in an editorial capacity for UpToDate. Dr. Miller has nothing to disclose. Dr. Miller has nothing to disclose. Dr. Miller has nothing to disclose. Dr. Miller has nothing to disclose. Dr. Onyike has received research support from Forest Laboratories, Inc. Dr. Pantelyat has nothing to disclose. Dr. Potter has nothing to disclose. Dr. Rademakers has nothing to disclose. Dr. Roberson received personal compensation from Rinat Neuroscience for consulting services. Dr. Sutherland has nothing to disclose. Dr. Tartaglia has nothing to disclose. Dr. Toga has nothing to disclose. Dr. Vetor has nothing to disclose. Dr. Weintraub has nothing to disclose. Dr. Wszolek has received personal compensation in an editorial capacity for Parkinsonism & Related Disorders and the European Journal of Neurology. Dr. Wszolek has received royalty payments for the discovery of LRRK2 gene mutations.
