Establishing Infrastructure for Prevention of familial AD in Mexico

描述（申请人提供）：阿尔茨海默病（AD）是全球范围内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，特别是在低收入和中等收入国家。然而，阿尔茨海默病的预防研究是具有挑战性的，部分原因是这种疾病在老年人中不可预测的发病。遗传突变导致全渗透常染色体显性家族性AD （FAD）的人为评估AD预防策略的有效性提供了信息和动机人群。PI与墨西哥的临床研究人员合作了10年，研究了多个因PSEN1或APP突变而患FAD的家庭。在携带FAD突变的临床前人群中进行预防试验的多中心合作努力正在进行中（主要遗传性阿尔茨海默病网络，PI是其中的一名现场调查员和阿尔茨海默病预防倡议），但这种努力尚未到达墨西哥。墨西哥进行FAD预防试验的能力可能受到限制，原因是家庭和医生对该疾病及其遗传性质缺乏了解，以及缺乏基础设施，包括经过适当培训进行此类研究的人员。该项目的目标是通过以下具体目标提高墨西哥研究人员开展此类研究的能力：目标1)提高当地开展高质量认知、临床、影像和生化评估的能力，作为墨西哥预防试验的结果衡量标准。该项目将作为计划阶段，探索墨西哥卫生专业人员到加州大学洛杉矶分校接受痴呆症诊断、管理和研究专业培训的可能性。目的2)调查墨西哥患FAD家庭成员对AD、遗传学、FAD和预防试验程序的态度并促进教育。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.