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Duke and RTI International Partner to Include Duchenne Muscular Dystrophy in Newborn Screenings in North Carolina

Tuesday, January 12, 2021
Baby for RTI Duke DMD announcement

RTI International, a nonprofit research institute, and Duke University, with funding from Muscular Dystrophy Association and Sarepta Therapeutics, have partnered to implement screening for Duchenne muscular dystrophy (DMD) and related neuromuscular conditions for newborns in North Carolina.

The screening has been implemented within the existing collaborative Early Check research study, a voluntary statewide initiative that is designed to identify infants with rare health conditions before symptoms appear and study the impact of early identification. Drs. Holly Peay (RTI) and Edward Smith (Duke) are leading the addition of DMD and of these neuromuscular conditions to Early Check’s screening panel. 

“We are very excited to be a part of this collaboration with RTI, MDA and Sarepta. Many inherited muscle diseases, including DMD, are not currently diagnosed until irreversible muscle weakness and damage have occurred. Future newborn screening programs, based in part on what is learned from this pilot study, may allow earlier diagnosis, counseling, and treatment – all of which, we hope, will improve long-term outcomes,” says Smith.

Expectant and new mothers may enroll their babies in Early Check beginning in the second trimester and up until babies are 1 month old.  Newborns are screened for spinal muscular atrophy, fragile X syndrome, and now DMD and related neuromuscular conditions. Early Check screening is free and uses the same dried blood sample taken for standard newborn screening, eliminating the need for an in-person study visit or a new blood sample from the newborn.

In the case of a positive screen result, Early Check provides free confirmatory testing. If a baby receives a diagnosis, Early Check provides free genetic counseling, education and support, a medical examination, opportunities for ongoing developmental assessments and transition to clinical care at no charge.

Smith, a pediatric neuromuscular specialist at Duke University, is providing clinical follow-up for all infants who screen positive for DMD or a related neuromuscular condition through Early Check.

Early Check is a partnership that includes: 

  • RTI International (Early Check PI, Dr. Don Bailey; CK-MM pilot PI, Dr. Holly Peay)
  • Duke University (Early Check PI, Dr. Michael Cotton; CK-MM pilot site lead, Dr. Edward Smith)
  • University of North Carolina at Chapel Hill (UNC-CH) (Early Check PI Dr. Cindy Powell)
  • Wake Forest School of Medicine (Early Check PI Nancy King)
  • North Carolina State Laboratory of Public Health (Early Check PI Scott Shone)

The Early Check infrastructure is supported by:  

  • National Center for Advancing Translational Sciences, NIH
  • The John Merck Fund

The CK MM screening is supported by:

  • Muscular Dystrophy Association
  • Sarepta Therapeutics

Currently, Duke OB patients receive a MyChart invite for Early Check. Providers are encouraged to point patients to the Early Check study team if they have questions about participating in Early Check. Additional information about the research program and enrollment criteria is available at

— Announcement from Duke Health News & Media Office