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.

National Institute of Health (NIH)
Centers for Disease Control and Prevention (NCBDD)
Research Demonstration and Dissemination Projects (R18)
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Special Emphasis Panel (ZCD1-CJM (08))
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Irannejad, Nassi
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Nationwide Children's Hospital
United States
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Mendell, Jerry R; Lloyd-Puryear, Michele (2013) Report of MDA muscle disease symposium on newborn screening for Duchenne muscular dystrophy. Muscle Nerve 48:21-6
Mendell, Jerry R; Shilling, Chris; Leslie, Nancy D et al. (2012) Evidence-based path to newborn screening for Duchenne muscular dystrophy. Ann Neurol 71:304-13
Dalal, P; Leslie, N D; Lindor, N M et al. (2010) Motor tics, stereotypies, and self-flagellation in primrose syndrome. Neurology 75:284-6