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.

项目概要/摘要新生儿筛查 (NBS) 旨在对严重疾病进行症状前识别，必须尽早开始的有效治疗是国家统计局政策的核心，是在出现症状前提供证据。不幸的是，这样的证据很难得到。聚集，因为大多数指定的情况都很罕见，并且需要努力识别症状前研究人员和倡导者发现自己陷入了经典的“第 22 条军规”。情况——如果没有足够的证据，NBS 就不可能发生，但收集这些证据必然需要这个问题是转化研究的巨大障碍。许多疾病永远不会有必要的证据来证明纳入 NBS 计划的合理性。我们建议制定并实施早期检查——一项研究计划，其中自愿筛查一系列条件是在联邦基础上提供的，可以快速筛选新的。候选条件，促进对早期疾病的了解，并促进注册和临床试验我们将建立并实施一项实验研究计划，并进行持续评估。我们从实施经验中学习并修改和改进计划以及与直接受筛查影响的公众和家庭的接触。一旦我们完成了该计划的所有方面，我们将提供筛选，逐步扩大范围我们每年为北卡罗来纳州所有 120,000 个分娩家庭提供筛查条件。我们将确定将是脊髓性肌萎缩症，一种危及生命的退行性运动神经元疾病。参与率；返回结果；提供咨询和临床服务；家庭做出护理决定；告知家庭正在进行的临床试验；为家庭提供支持；决定他们是否想要参加临床试验；并随着时间的推移跟踪儿童和家庭的研究；我们将寻求外部资金来扩大早期筛查的益处、危害和心理社会结果。检查其他候选疾病，例如脆性 X 综合征，将使用实施数据进行细化。过程，通知复制，并建立测试其他候选条件的基础设施。为了实现长期生存能力，我们将开发一种基于协作的公私伙伴关系模式与联邦机构、基金会、患者权益团体和行业的合作。