Establishing Infrastructure for Prevention of familial AD in Mexico

在墨西哥建立预防家族性 AD 的基础设施

基本信息

批准号：
8743128
负责人：
JOHN M RINGMAN
金额：
$ 4.8万
依托单位：
UNIVERSITY OF CALIFORNIA LOS ANGELES
依托单位国家：
美国
项目类别：
财政年份：
2013
资助国家：
美国
起止时间：
2013-09-01 至 2016-05-19
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/8743128
关键词：
Alzheimer disease prevention Alzheimer&apos s Disease Attitude Biochemical Biological Markers Caring Cities Clinical Clinical Trials Cognitive Collaborations Country Dementia Development Diagnosis Disease Early Onset Familial Alzheimer&apos s Disease Education Elderly Family Family Physicians Family member Funding Genetic Genetic screening method Goals Health Health Professional Human Resources Image Income Individual Inherited Institutes Institution International Intervention Studies Interview Knowledge Longevity Mexican Mexico Mutation Natural History Nature Needs Assessment Neurologist Neurology Observational Study Onset of illness Outcome Measure Participant Pathology Persons Phase Placebo Control Population Presenile Alzheimer Dementia Prevention Prevention strategy Procedures Public Health Qualifying Questionnaires Registries Research Research Infrastructure Research Personnel Research Training Risk Running Sampling Series Site Spinal Puncture Staging Structure Training Universities Work autosomal dominant trait base familial Alzheimer disease follow-up improved interest medical specialties meetings mutation carrier neurosurgery pre-clinical presenilin-1 presenilin-2 prevent programs public health relevance success

项目摘要

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.

描述（由申请人提供）：阿尔茨海默病（AD）是世界范围内日益严重的健康问题，目前可用的治疗方法效果有限。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 预防研究具有挑战性，部分原因是老年人中该疾病的发病情况不可预测。遗传导致完全外显性常染色体显性家族性 AD (FAD) 突变的人为评估 AD 预防策略的有效性提供了信息丰富且积极的人群。 PI 与墨西哥的临床研究人员合作已有 10 年，研究了多个因 PSEN1 或 APP 突变而患有 FAD 的家庭的特征。对携带 FAD 突变的临床前患者进行预防试验的多中心协作工作正在进行中（PI 是现场调查员的显性遗传阿尔茨海默病网络和阿尔茨海默病预防计划），但此类努力尚未到达墨西哥。由于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（包括经过适当培训来进行此类研究的人员），墨西哥进行 FAD 预防试验的能力可能受到限制。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) 增强当地进行高质量认知、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。该项目将在规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交流计划的可能性。目标 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。