OF PROPOSED PROJECT: This is a collaborative effort among the Children's Research Institute and Hospital in Columbus, Cincinnati Children's Hospital, the Ohio Department of Health, and the University of Utah which is aimed at developing, evaluating, and implementing a laboratory protocol for newborn screening of creatine kinase (CK) on dried blood spots in relation to Duchenne Muscular Dystrophy (DMD). Validity of the screening test will be assessed and DMD status will be confirmed by DNA testing of the dystrophin gene. Investigators propose five aims to achieve the objectives.
Aim 1 is to plan the activities with the CDC Scientific Liaison;
Aim 2 is to develop laboratory protocols for CK testing and DNA analysis of dried blood spots using 12,000 anonymous neonatal male samples;
Aim 3 is to develop, implement, and establish the informed consent for newborn screening for DMD;
Aim 4 is to launch a feasibility project with another 12,000 subjects based on the results of Aims 1-3, and;
Aim 5 is to implement a newborn screening of males for CK testing in a large population from the Great Lakes Regional Network (N>400,000).

Agency
National Institute of Health (NIH)
Institute
Centers for Disease Control and Prevention (NCBDD)
Type
Special Cooperative Investigations/Assessment of Control/Prevention Methods (U50)
Project #
5U50DD000030-02
Application #
7079296
Study Section
Special Emphasis Panel (ZDD1-LGT (03))
Program Officer
Irannejad, Nassi
Project Start
2004-09-30
Project End
2007-09-29
Budget Start
2005-09-30
Budget End
2006-09-29
Support Year
2
Fiscal Year
2005
Total Cost
$250,000
Indirect Cost
Name
Nationwide Children's Hospital
Department
Type
DUNS #
147212963
City
Columbus
State
OH
Country
United States
Zip Code
43205
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