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:ARTFL联盟旨在)描述北美人口零星FTLD病人准备临床试验(项目1)和B)纵向变化特征在无症状和症状家族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措施(项目2)。ARTFL密切合作与新FTD障碍注册表(www.ftdregistry.org参与招聘和表征。
设计/方法:参与者评估标准电池包括神经系统检查和神经心理测试。DNA、等离子体、mRNA和PBMCs收集并存储在国家为阿尔茨海默病细胞库。所有的参与者是FTLD-associated突变的基因分型。无症状的家庭成员接受核磁共振成像。家族性参与者换取一年随访。
结果:812(401名女性(49.4%))参与者一直在评估通过2017年9月16日地点。项目1已经招收了409名零星FTLD综合症患者(平均年龄65.9岁(范围34 - 89)),最普遍的表型是bvFTD PSP(32%)(22%),和svPPA(14%),其次是nfvPPA(11%)和哥伦比亚广播公司(10%)。三大组与临床医生的全球印象(CGI)严重性评级但不同施瓦布和英格兰ADL (svPPA > bvFTD > PSP)和PSP评定量表(PSP > > bvFTD > svPPA),额外的临床痴呆Rating-Comportment成对差异(bvFTD > svPPA, PSP)和传统CDR-SB (bvFTD > svPPA)。项目2招收了286名无症状(CDR = 0;平均年龄48.2)和117年症状(CDR > = 0.5;平均年龄58.8岁;意味着CDR-SB: 5.03)与fFTLD参与者。169(113无症状)返回纵向评估。
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、基因和成像数据向调查人员在世界范围内,越来越多,网络将支持临床试验。
研究支持:推进研究和治疗额颞叶大叶性变性(ARTFL)研究接收支持通过U。卫生和人类服务部(发病率)和美国国家神经疾病和中风研究所医学转化(研究所)/国家中心(NCATS)授予U54NS092089。ARTFL紧密合作和共享的基础设施与家族性额颞叶痴呆的纵向评价对象(LEFFTDS)项目,由美国国家老龄问题研究所资助(NIA)授予U01AG045390
披露:博士拳击手没有披露。Rosen博士没有披露。Boeve博士接到GE保健和Axovant研究支持。博士豪雅没有披露。格罗斯曼博士已经收到个人赔偿咨询、担任科学顾问委员会,与通用电气惠特尼说,或其他活动。格罗斯曼博士已经收到了个人在一篇社论中补偿神经病学的能力。首页科波拉博士没有披露。迪克森博士已经收到个人赔偿咨询、担任科学顾问委员会说,与默克公司或其他活动,莉莉,生原体,皮拉马尔。Appleby博士没有披露。Bordelon博士没有披露。 Dr. Brushaber has nothing to disclose. Dr. Dheel has nothing to disclose. 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. Foroud has nothing to disclose. Dr. Ghoshal has nothing to disclose. Dr. Graff-Radford has nothing to disclose. Dr. Hsiung has nothing to disclose. Dr. Huey has nothing to disclose. Dr Irwin 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. Kerwin has nothing to disclose. Dr. Klein has nothing to disclose. Dr. Knopman has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Lundbeck Pharmaceuticals and the DIAN study. Dr. Kornak has nothing to disclose. Dr. Litvan has received personal compensation for serving onthe scientific steering committee of the Biotie/Parkinson Study Group clinical trial Dr. Lungu has nothing to disclose. 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. Ramos has nothing to disclose. Dr. Rascovsky has nothing to disclose. Dr. Roberson has nothing to disclose. Dr. Sutherland has nothing to disclose. Dr. Tartaglia has nothing to disclose. Dr. Tatton has nothing to disclose. Dr. Toga has nothing to disclose. Dr. Weintraub has nothing to disclose. Dr. Wszolek has received personal compensation in an editorial capacity for Elsevier - Parkinsonism & Related Disorders, and Wiley - European Journal of Neurology. Dr. Wszolek has received royalty, license fees, or contractual rights payments from Mayo Clinic and I have a financial interest in technologies entitled, “Identification of Mutations in PARK8, a Locus for Familial Parkinson’s Disease” and “Identification of a Novel LRRK2 Mutation, 6055G>A (G2019S), Linked to Autosomal Dominant Par.
