Implementing Newborn Screening for Duchenne Muscular Dystrophy in the Community

描述（由申请人提供）：在与CDC的合作协议中，建立了杜氏肌营养不良症（DMD）新生儿筛查计划（NBS）的关键基础，包括：在bbbb30000个匿名样本中观察到的肌酸激酶（CK）范围，一种成功的测量CK同工酶的方法，特别强调CK- mb，以及一种可靠的DNA分析方法，通过已知的DMD突变进行验证。这些实验室方法使我们能够从出生时采集的最初干燥的血斑样本中进行DMD的所有NBS，而无需在以后获得额外的血液。这些成就使我们有可能提出一个更广泛的方案，以覆盖俄亥俄州的大多数分娩医院，实现将实验室为基础的方案转化为社区的真正精神。使这成为现实的令人信服的理由包括：1)DMD是最常见的毁灭性肌肉疾病

DESCRIPTION (provided by the applicant): 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 application); 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 application, 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.