Establishing Infrastructure for Prevention of familial AD in Mexico

描述（由申请人提供）：阿尔茨海默病（AD）是全球日益严重的健康问题，目前可用的治疗方法疗效有限。预防AD可能是一个更相关的目标，特别是在中低收入国家。然而，AD预防的研究是具有挑战性的，部分原因是该疾病在老年人中的发病不可预测。遗传突变导致完全显性常染色体家族性AD（FAD）的人为评估AD预防策略的有效性提供了信息和动力。PI已经与墨西哥的临床研究人员合作了10年，描述了多个因PSEN1或APP突变而患有FAD的家庭。正在进行多中心合作，在携带FAD突变的临床前患者中进行预防试验（显性遗传阿尔茨海默病网络，PI是研究中心研究者和阿尔茨海默病预防倡议），但这些努力尚未达到墨西哥。在墨西哥进行FAD预防试验的能力可能有限，因为家庭和医生对这种疾病及其遗传性质缺乏了解，而且缺乏基础设施，包括受过适当培训的人员进行这种研究。该项目的目标是通过以下具体目标提高墨西哥研究人员进行此类研究的能力：目标1）提高当地进行高质量认知、临床、成像和生化评估的能力，作为墨西哥预防试验的结果指标。该项目将是规划阶段，其中墨西哥的卫生专业人员来到加州大学洛杉矶分校接受痴呆症诊断，管理和研究方面的专业培训的交流计划的可能性将被探讨。目的2）调查墨西哥FAD家庭成员对AD、遗传学、FAD和预防试验程序的态度，并促进相关教育。目标3）建立有资格参加FAD预防试验的人员登记册。

DESCRIPTION (provided by applicant): Alzheimer's disease (AD) is a growing health problem worldwide and currently available treatments are of limited efficacy. Prevention of AD may be a more relevant goal, particularly in lower and middle-income countries. Studies of AD prevention however, are challenging, in part because of the unpredictable onset of the disease in elderly individuals. Persons inheriting mutations causing fully-penetrant autosomal dominant familial AD (FAD) provide an informative and motivated population for assessing the efficacy of AD prevention strategies. The PI has been working with clinician investigators in Mexico for 10 years, characterizing multiple families with FAD due to PSEN1 or APP mutations. Multi-center collaborative efforts to perform prevention trials in preclinical persons carrying FAD mutations are underway (the Dominantly Inherited Alzheimer Network in which the PI is a site investigator and the Alzheimer Prevention Initiative) but such efforts have not reached Mexico. The capacity to perform FAD prevention trials in Mexico may be limited due to lack of understanding among families and physicians of the disease and its genetic nature as well as by the availability of infrastructure including personnel appropriately trained to perform such studies. The goal of this project is to enhance the ability of Mexican investigators to perform such studies through the following specific aims: Aim 1) Enhance local capacity to perform quality cognitive, clinical, imaging, and biochemical assessments as outcome measures for prevention trials in Mexico. This project will be the planning stage in which the possibility of exchange programs wherein health professionals from Mexico come to the UCLA to receive specialty training in dementia diagnosis, management, and research will be explored. Aim 2) Investigate attitudes towards and promote education regarding AD, genetics, FAD, and prevention trial procedures among members of families with FAD in Mexico. Aim 3) Establish a registry of persons eligible for participation in prevention trials for FAD.