Implementing Newborn Screening for Duchenne Muscular Dystrophy in the Community

在社区实施新生儿杜氏肌营养不良症筛查

• 批准号: 7683919
• 负责人: Jerry Roy Mendell
• 金额: $ 45万
• 依托单位: RESEARCH INST NATIONWIDE CHILDREN'S HOSP
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-09-30 至 2011-09-29
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7683919
• 关键词: Implementing; Newborn; Screening; Duchenne; Muscular

ABSTRACT In a cooperative agreement with the CDC, the critical groundwork for a newborn screening program (NBS) for Duchenne muscular dystrophy (DMD) was established and included: the range of creatine kinase (CK) observed on > 30,000 anonymous samples, a successful method to measure CK isoenzymes, with particular emphasis on CK-MB, and a reliable method of DNA analysis of the dystrophin gene, with validation from known DMD mutations. These laboratory approaches permit us to do all NBS for DMD from the initial dried blood spot samples taken at birth without obtaining additional blood at a later time. These achievements have made it possible to propose a more extended program to cover the majority of the birthing hospitals in the State of Ohio, fulfilling the true spirit of translating a laboratory-based program to the community. Compelling reasons for making this a reality include: 1) DMD is the most common devastating muscle disease of childhood; 2) NBS will have a major impact on the disease and community offering early intervention and treatment (including the use of corticosteroids and exciting molecular and pharmacologic approaches reviewed in this proposal); 3) excessive expense and anxiety of the later diagnostic challenge faced by many families; 4) genetic counseling to families at risk for having more sons with DMD (multiple boys with DMD leads to overwhelming financial expenses, guilt-laden parents, and increased incidence of divorce). In this proposal, NBS will be extended throughout the State of Ohio, reaching 75,000 newborn males. The first year will be focused on organization and will permit us to: 1) establish an Administrative Core to manage a network of participating hospitals (AIM1); 2) establish a Laboratory Core for evaluation of CK and DNA for the dystrophin gene (AIM2); and 3) establish the network of hospitals participating in this program (AIM3). Starting in year 1 and continuing in years 2 and 3 will be the implementation of the NBS of 75,000 males for DMD (AIM4). The success of this program will provide a template for expanding NBS for DMD to other States with the potential of making this a national voluntary screening program. Such a program will make a difference for this disease. PROJECT NARRATIVE Duchenne muscular dystrophy (DMD) is the most common devastating muscle disease of childhood. Families are often burdened with multiple affected boys because the first is not often diagnosed until age 5, resulting in overwhelming expense and hardship for families. Early treatment can make a difference for DMD boys and better treatments are on the horizon. This proposal will establish a statewide program in Ohio for newborn screening for DMD that can be used as a template to expand this to a national voluntary screening program.

抽象的 在与CDC的合作协议中，新生儿筛查计划（NBS）的关键基础 建立并包括：肌酸激酶（CK）范围建立了肌肉营养不良（DMD） 观察到> 30,000个匿名样本，这是一种测量CK同工酶的成功方法，特别是 强调CK-MB，以及一种可靠的DNA分析肌营养不良蛋白基因的方法，并从中验证 已知的DMD突变。这些实验室方法使我们能够从最初干燥中为DMD做所有NB 出生时采集的血点样本在以后没有获得其他血液。这些成就有 提出一个更扩展的计划，以涵盖大多数分娩医院 俄亥俄州，履行将基于实验室计划转化为社区的真正精神。引人注目 使这一现实的原因包括：1）DMD是最常见的毁灭性肌肉疾病 童年; 2）NBS将对提供早期干预的疾病和社区产生重大影响， 治疗（包括使用皮质类固醇以及令人兴奋的分子和药理学方法评论 在此提案中）； 3）许多家庭面临的后来诊断挑战的费用和焦虑； 4） 对有更多儿子与DMD有更多儿子的家庭的遗传咨询（多个患有DMD的男孩会导致 压倒性的财务费用，内gui的父母和离婚的发生率增加）。 在此提案中，NBS将在整个俄亥俄州扩展，达到75,000名新生男性。这 第一年将专注于组织，并将允许我们：1）建立一个管理核心来管理 参与医院的网络（AIM1）； 2）建立用于评估CK和DNA的实验室核心 肌营养不良基因（AIM2）； 3）建立参加该计划的医院网络（AIM3）。开始 在第1年和第2年和第3年持续将是DMD的75,000名男性的NB （AIM4）。该程序的成功将提供一个模板，用于将DMD扩展到其他州 使它成为国家自愿筛查计划的潜力。这样的程序会有所作为 这种疾病。项目叙述 Duchenne肌肉营养不良（DMD）是最常见的童年灾难性肌肉疾病。家庭 通常会受到多个受影响男孩的负担，因为第一个直到5岁才经常被诊断出来，从而导致 给家庭的压倒性费用和艰辛。早期治疗可能对DMD男孩和 更好的治疗即将到来。该提案将在俄亥俄州建立全州计划 筛选DMD可以用作将其扩展到国家自愿筛查计划的模板。