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New NC-Based Study to Advance Research Through Free and Expanded Health Screening for Newborn Babies

RESEARCH TRIANGLE PARK, NC - Early Check, a new research study, led by RTI International and a group of distinguished partners, is now available for newborn babies in North Carolina. Early Check is a free screening study designed to identify children with rare health conditions before symptoms appear and study the benefits of early treatments. New and expectant mothers may enroll in the program online from their second trimester until 4 weeks after their child’s birth.

"We are enrolling participants now and hope to offer every baby born in North Carolina the opportunity to participate in this unique study," said Don Bailey, PhD, Distinguished Fellow at RTI International and principal investigator for Early Check.

Currently, the North Carolina State Laboratory of Public Health performs newborn screening for all babies born in the state. Early Check staff located in the NC state Lab will perform the additional Early Check screenings. “The North Carolina State Laboratory of Public Health is excited to be advancing the science of public health through our partnership with RTI," said Scott J. Zimmerman, DrPH, MPH, director of the North Carolina State Laboratory of Public Health.

After receiving the mother’s consent, Early Check reuses the same blood sample taken for regular newborn screening to test for two additional rare conditions: fragile X syndrome—the leading inherited cause of intellectual disability, and spinal muscular atrophy—a serious neuromuscular disease that may cause early death among infants. These conditions are not currently included in standard newborn screening in North Carolina. 

"There is an ongoing need to show that early treatment changes outcomes for fragile X syndrome and for spinal muscular atrophy, " said Lisa Gehtland, M.D., a physician and public health analyst at RTI and the project director. “We hope that Early Check test results will provide this evidence to inform decisions about newborn screening for these and other rare disorders that could be part of Early Check in the future.”

For the extra tests, RTI is working in partnership with the following organizations to make the Early Check study possible:

  • North Carolina State Laboratory of Public Health
  • University of North Carolina at Chapel Hill
  • Duke University
  • Wake Forest School of Medicine

Primary funding for Early Check has been provided by the National Institutes of Health, National Center for Advancing Translational Sciences and the Eunice Kennedy Shriver National Institute of Child Health and Human Development; The John Merck Fund; CureSMA; and Asuragen.

Additional information about the research program and enrollment criteria is available at EarlyCheck.org