North Carolina’s Early Check Program to Add New Muscular Dystrophy Test to Newborn Screening Panel

The test will identify Duchenne muscular dystrophy and some other types of muscle conditions, as part of the Early Check Program, which is led at UNC-Chapel Hill by Cynthia Powell, MD.

March 5, 2020

RESEARCH TRIANGLE PARK, N.C. – RTI International, a nonprofit research institute, is partnering with the Muscular Dystrophy Association and Sarepta Therapeutics to add a test for Duchenne muscular dystrophy and some other types of muscle conditions to the Early Check program’s screening panel for North Carolina newborns.

Early Check is an ongoing partnership between RTI, Duke University, the University of North Carolina at Chapel Hill, Wake Forest University, and the North Carolina State Laboratory of Public Health that offers free, voluntary tests for conditions not included in the state’s standard newborn screening. The program, which currently screens for fragile X syndrome and spinal muscular atrophy, is offered to all new parents in North Carolina. The UNC site principal investigator is Cynthia Powell, MD, Professor of Pediatrics and Genetics at the UNC School of Medicine, Director of the Medical Genetics Residency Program, and member of the UNC Children’s Research Institute.

“Adding this test to Early Check with the help of the Muscular Dystrophy Association and Sarepta is a significant step forward for parents and newborns in North Carolina,” said Holly Peay, PhD, a senior research public health analyst at RTI. “Early detection of conditions like Duchenne muscular dystrophy is critically important because it can allow for earlier treatment for the baby and education and counseling for the family.” 

Duchenne muscular dystrophy is a genetic disorder characterized by progressive muscle degeneration and weakness that can be life-limiting. About 1 in 3,500-5,000 boys are born with DMD, and very rarely girls can also be affected. Past research has shown that the average age of diagnosis for Duchenne muscular dystrophy is 4-to-5 years old, long after symptoms first appear.

“Sarepta is pleased to partner on the Duchenne Early Check program. This is an important initiative in our broader commitment to ensure that families have equitable access to early diagnosis and the best chance for improved outcomes as a result of earlier care and treatment,” said Diane Berry, PhD, Senior Vice President, Global Policy, Government & Patient Affairs at Sarepta. 

“We are committed to promoting policies and programs that move newborn screening forward for neuromuscular disorders,” says Lynn O’Connor Vos, president and CEO of MDA. “We are delighted to be working with RTI and its partners to bring free newborn screening for DMD to families in North Carolina.”

The new screening test, which earned FDA approval in December of 2019, is expected to be added to the Early Check panel in late spring or early summer of this year. If infants are confirmed to have Duchenne muscular dystrophy or a similar condition, Early Check will provide families and clinicians with tailored educational materials, genetic counseling, and targeted consultation and assessment through Duke University. The Early Check program will collaborate with other ongoing pilots towards a shared goal of understanding the potential benefit of newborn screening for Duchenne. 

For more information about Early Check, visit: www.earlycheck.org. To learn more about the Muscular Dystrophy Association, visit: www.mda.org.

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