Early Check: A Collaborative Innovation to Facilitate Pre-Symptomatic Clinical Trials in Newborns

早期检查：促进新生儿症状前临床试验的协作创新

基本信息

批准号：
9975249
负责人：
Donald B Bailey
金额：
$ 155.7万
依托单位：
RESEARCH TRIANGLE INSTITUTE
依托单位国家：
美国
项目类别：
财政年份：
2016
资助国家：
美国
起止时间：
2016-09-15 至 2022-06-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9975249
关键词：
Advocate Affect Aftercare Authorization documentation Award Birth Child Child Support Clinical Services Clinical Trials Collection Consent Counseling Data Decision Making Disease Early Intervention Ensure Evaluation Family Foundations Fragile X Syndrome Funding Future General Population Goals Health Health Communication Health Services Research Industry Infant Informatics Infrastructure Intellectual functioning disability International Laboratories Learning Life Modeling Motor Neuron Disease Neonatal Screening Newborn Infant North Carolina Outcome Policies Policy Maker Population Positioning Attribute Process Public Health Public Health Informatics Rare Diseases Registries Research Research Personnel Science Secure Source Spinal Muscular Atrophy Symptoms Testing Time Translational Research Universities Work base caregiving design effective therapy experience experimental study family support field study flexibility follow-up forest improved innovation medical schools patient advocacy group programs psychosocial public-private partnership rare condition recruit screening screening panel screening policy screening program success symptom treatment translational medicine

项目摘要

PROJECT SUMMARY/ABSTRACT Newborn screening (NBS) is designed for pre-symptomatic identification of serious conditions for which there are effective treatments that must begin early. Central to NBS policy is evidence that pre-symptomatic treatment is more effective than treatment after symptoms appear. Unfortunately, such evidence is difficult to amass because most nominated conditions are rare and the effort required to identify pre-symptomatic infants for clinical trials is substantial. Researchers and advocates find themselves in a classic “Catch 22” situation—NBS cannot happen without sufficient evidence, but gathering this evidence necessarily requires large-scale population screening. This problem is such a formidable barrier to translational research that many disorders will never have the evidence needed to justify inclusion in NBS programs. We propose to develop and implement Early Check—a research program in which voluntary screening for a panel of conditions is offered on a statewide basis. Early Check would allow rapid screening for new candidate conditions, advance understanding of early disease, and facilitate registry and clinical trial recruitment. We will build and implement an experimental research program with an ongoing evaluation component in which we revise and improve the program as we learn from our implementation experiences and engagement with the general public and families directly affected by screening. Once we have finalized all aspects of the program, we will offer screening for a gradually expanding set of conditions to all 120,000 birthing families per year in North Carolina. Our first condition offered for screening will be spinal muscular atrophy, a life-threatening degenerative motor neuron disorder. We will determine participation rates; conduct screening; return results; provide counseling and clinical services; support families in caregiving decisions; inform families of ongoing clinical trials; provide support for families in deciding whether they want to participate in a clinical trial; and follow children and families over time to study benefits, harms, and psychosocial outcomes of screening. We will seek external funds to expand Early Check to other candidate disorders, such as fragile X syndrome. Implementation data will be used to refine the process, inform replication, and establish an infrastructure for testing other candidate conditions. To achieve long-term viability, we will develop a model of public-private partnerships based on collaborative engagement with federal agencies, foundations, patient advocacy groups, and industry.

项目摘要/摘要新生儿筛查（NBS）设计用于预症状的严重疾病是必须早期开始的有效治疗方法。 NBS政策的核心是证据表明症状前出现症状后，治疗比治疗更有效。不幸的是，这种证据很难积累，因为大多数提名的条件很少，并且识别症状的努力用于临床试验的婴儿很重要。研究人员和拥护者发现自己是经典的“捕捞22” 情况 - 如果没有足够的证据，就不会发生NBS，但是收集这些证据必然需要大规模的人口筛查。这个问题是翻译研究的巨大障碍，以至于许多疾病永远不会有证据证明纳入NBS计划所需的证据。我们建议开发和实施早期检查，这是一项研究计划，其中自愿筛选条件面板是在全州提供的。早期检查将允许快速筛选新的候选状况，提高对早期疾病的了解，并促进注册和临床试验招聘。我们将通过持续的评估来构建和实施实验研究计划从实施经验中学习时，我们在其中修改和改进计划的组成部分以及与公众和受筛查直接影响的家庭和家庭的互动。一旦我们完成了该计划的所有方面，我们将为逐渐扩展的一组筛选北卡罗来纳州每年所有120,000个生日家庭的条件。我们提供的第一个筛查条件将是脊柱肌肉萎缩，一种威胁生命的退化运动神经元疾病。我们将确定参与率；进行筛查；返回结果；提供咨询和临床服务；支持护理决定的家庭；告知家庭正在进行的临床试验；为家庭提供支持决定他们是否想参加临床试验；并跟随儿童和家庭随着时间的流逝学习筛查的好处，危害和社会心理结果。我们将寻求外部资金以提早扩展检查到其他候选疾病，例如脆弱的X综合征。实施数据将用于完善过程，信息复制并建立用于测试其他候选条件的基础架构。到实现长期生存能力，我们将基于协作建立一个公私合作伙伴关系的模型与联邦机构，基金会，患者倡导团体和行业的互动。