Developing a Community-Based ASD Research Registry

描述(由申请人提供)：建立基于社区的ASD研究注册本申请涉及广泛的挑战领域05(比较有效性研究)和特定挑战主题05-MH-104(建立ASD注册中心以用于比较有效性研究)。将大样本纳入研究是更好地了解ASD的病因和治疗的最大障碍。越来越多的研究将ASD描述为多基因、表型异质性和高度可变的治疗反应。因此，大样本对于解开构成这种令人费解的疾病的多种“自闭症”至关重要。与此同时，ASD的低患病率和许多研究的高负担给招生带来了挑战。我们提出了一项新的战略，以创建一个ASD研究注册中心，与IAN和AGRE等国家注册中心采用的注册中心形成补充。我们建议在现有社区-学术伙伴关系的基础上：1)通过基于人口的招募，将7500个自闭症患者家庭登记到研究登记中。我们将通过宾夕法尼亚州自闭症服务局(BAS)分发的全州需求评估，联系医疗补助系统中被诊断为ASD儿童的宾夕法尼亚州15,000个家庭。我们还将在已有的丰富的学术界伙伴关系和倡议的基础上，寻求替代战略。照顾者将被要求注册ASD研究登记，并被问及他们可能参与的特定类型的研究。根据我们之前的需求评估和其他研究工作的回应，我们预计至少有7500名ASD患者入选。2)估计受访者的样本偏倚。我们将评估关于地理、性别、种族、民族和服务需求的样本偏见，以及偏见如何与参与研究的意愿相关联。我们将使用医疗补助申请和特殊教育数据来估计我们招聘对象的偏见。这对于利用这一登记册的合作研究将是无价的。3)确定照顾者报告的临床特征的准确性。登记的照顾者将完成社会沟通问卷(SCQ)和社会反应性量表(SRS)。我们将邀请200名受访者进行分层随机抽样，接受更广泛的表型分析；简单和黄金标准测量的比较将使我们能够改进我们有效识别自闭症患者的策略。4)利用生物信息学和当地社区的支持，迅速建立和维持登记册。书记官处将使用一个基于网络的数据管理系统，该系统将创建一个具有跟踪和电子邮件后续行动的电子目录，并使安全的在线数据收集成为可能。通过培训和支持方案以及参与咨询委员会，社区合作伙伴将塑造登记册并从中受益。登记处还将最大限度地接触其他研究人员，同时保持科学和道德标准。拟议的活动将产生一个大规模的、地理上接近的实验室，用于自闭症患者的生物和行为特征和治疗。我们还将开发和传播一个创建社区登记册的模式，该模式有可能产生一个全国干预效果研究网络。 公共卫生相关性：在研究研究中招募大样本的困难可能是更好地了解自闭症谱系障碍(ASD)的原因和治疗的最大障碍。我们提出了一种新的方法来快速有效地创建ASD研究注册，其中包括宾夕法尼亚州内至少7500名有兴趣参与研究的ASD患者。我们将确定，登记的成员与从他们中抽取的更广泛的人群一样多样化，测试一种验证他们的诊断的具有成本效益的方法，并展示如何在大学与地方和州机构之间建立有效的伙伴关系，以促进研究。

DESCRIPTION (provided by applicant): Developing a Community-Based ASD Research Registry This application addresses Broad Challenge Area 05 (Comparative Effectiveness Research) and Specific Challenge Topic 05-MH-104 (Building ASD Registries for Use in Comparative Effectiveness Research). Enrolling large samples in research studies is the most significant barrier to better understanding the etiology and treatment of ASD. A growing body of research portrays ASD as polygenic, phenotypically heterogeneous, and highly variable in treatment response. Large samples are therefore critical to unraveling the multiple "autisms" that comprise this puzzling disorder. At the same time, the low prevalence of ASD and the high burden of many studies make enrollment challenging. We propose a novel strategy to create an ASD research registry that complements those adopted by national registries such as IAN and AGRE. We propose to build on existing community-academic partnerships to: 1) Enroll 7500 families of individuals with ASD into a research registry through population-based recruitment. We will contact >15,000 Pennsylvania families of children diagnosed with ASD in the Medicaid system through a statewide needs assessment distributed by Pennsylvania's Bureau of Autism Services (BAS). We will also pursue alternative strategies that build on a rich array of academic-community partnerships and initiatives already in place. Caregivers will be asked to enroll in an ASD research registry and asked about specific types of studies in which they might participate. Based on response from our previous needs assessment and other research efforts, we expect to enroll at least 7500 individuals with ASD. 2) Estimate the sample bias in our respondents. We will assess sample bias with regard to geography, sex, race, ethnicity and service needs, and how bias is associated with willingness to participate in research. We will estimate bias using Medicaid claims and special education data for the population from which we are recruiting. This will be invaluable to partnering studies that make use of this registry. 3) Determine the accuracy of caregiver-reported clinical characterization. Enrolled caregivers will complete the Social Communication Questionnaire (SCQ) and the Social Responsiveness Scale (SRS). We will invite a stratified random samplee200 respondents to receive more extensive phenotyping; comparison of brief and gold standard measures will allow us to refine our strategy for efficiently identifying individuals with ASD. 4) Use bioinformatics and local community support to rapidly create and sustain the registry. The registry will use a web-based data management system that will create an electronic directory with tracking and email follow-up, and enable secure online data collection. Through a program of training and support, and involvement in an Advisory Committee, community partners will both shape and benefit from the registry. The registry will also maximize access to other researchers while maintaining scientific and ethical standards. The proposed activities will result in a large-scale, geographically proximal laboratory for the biological and behavioral characterization and treatment of individuals with ASD. We also will develop and disseminate a model for creating community registries that has the potential to result in a national network for intervention effectiveness research. PUBLIC HEALTH RELEVANCE: The difficulty of enrolling large samples in research studies is perhaps the most significant barrier to better understanding the causes and treatment of Autism Spectrum Disorder, or ASD. We propose a new approach to quickly and efficiently create an ASD research registry that includes at least 7500 individuals with ASD within the state of Pennsylvania interested in participating in research. We will establish that members of the registry are as diverse as the broader population from which they are drawn, test a cost-effective way of verifying their diagnosis, and demonstrate how to build effective partnerships between universities and local and state agencies to advance research.