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Newborn screening for DMD shows promise as an international model
Date:3/19/2012

t running DMD newborn screening program in history, in Wales, recently closed. To this day, Antwerp, Belgium is home to the only program that maintains newborn screening for DMD.

"The three-step model is poorly adapted to newborn screening in the USA," said Jerry R. Mendell, MD, principal investigator of the study and current director of the Center for Gene Therapy at The Research Institute at Nationwide Children's Hospital. "It can work efficiently in a publically-funded health care system where newborn care is designated at specific times post-delivery making follow-up blood draws a realistic part of the total program for child welfare." In the USA, mother and child are discharged within 24 to 48 hours following uncomplicated deliveries and post-natal care cannot be enforced. Thus, many newborns with elevated CKs at birth would be lost to follow up.

The two-tier system developed by Dr. Mendell permits heel blood taken at birth to be tested initially for CK with follow up DNA testing for DMD. A CK is obtained on the dried blood spot and if the level exceeds a predetermined threshold, DNA testing is automatically done from the same sample. No follow up blood samples are required. "This two-tier system (CK and DNA testing on same sample) is practical, comprehensive, and cost effective," said Dr. Mendell, who is also a faculty member in The Ohio State University College of Medicine.

Promising new DMD therapies have rekindled interest in establishing a pathway for newborn screening in the DMD patient population. In 2004, Center for Disease Control workshop participants concluded that early diagnosis of DMD could have potential advantages for families, considering multiple treatment strategies were on the horizon. Funds were made available to Dr. Mendell and his team at Nationwide Children's Hospital to explore the feasibility for establishing a model for DMD newborn screening in the United States.

The study appear
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Contact: Erin Pope
Erin.Pope@NationwideChildrens.org
614-355-0495
Nationwide Children's Hospital
Source:Eurekalert

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