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

• 批准号: 8770527
• 负责人: JOHN M RINGMAN
• 金额: $ 3.38万
• 依托单位: UNIVERSITY OF CALIFORNIA LOS ANGELES
• 依托单位国家: 美国
• 财政年份: 2013
• 资助国家: 美国
• 起止时间: 2013-11-01 至 2015-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8770527
• 关键词: Alzheimer disease prevention; Alzheimer' s Disease; Attitude; Biochemical; Biological Markers; Caring; Cities; Clinical; Clinical Trials; Cognitive; Collaborations; Country; Dementia; Development; Diagnosis; Disease; Early Onset Familial Alzheimer' 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; success

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(申请人提供)：阿尔茨海默病(AD)是一个日益严重的全球健康问题，目前可用的治疗方法疗效有限。预防阿尔茨海默病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，预防阿尔茨海默病的研究具有挑战性，部分原因是这种疾病在老年人中的发病不可预测。常染色体显性遗传性家族性阿尔茨海默病(FAD)的遗传者为评估AD预防策略的有效性提供了一个信息丰富和积极的人群。PI已经与墨西哥的临床医生调查人员合作了10年，确定了由于PSEN1或APP突变而患有FAD的多个家庭的特征。对携带FAD突变的临床前患者进行预防试验的多中心合作努力正在进行中(多米尼利遗传性阿尔茨海默病网络，PI是现场调查员，以及阿尔茨海默病预防倡议)，但此类努力尚未到达墨西哥。在墨西哥进行FAD预防试验的能力可能受到限制，原因是家庭和医生对这种疾病及其遗传性质缺乏了解，以及基础设施的可获得性，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)提高当地能力，以执行高质量的认知、临床、成像和生化评估，作为墨西哥预防试验的结果衡量标准。该项目将是探索交流项目的可能性的规划阶段，墨西哥的卫生专业人员将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。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，并促进教育。目的3)建立有资格参加FAD预防试验的人员登记。