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

Cynthia M. Powell, MD, professor of pediatrics and genetics in the UNC School of Medicine, is Early Check Lead Investigator for the team from UNC.

New NC-Based Study to Advance Research Through Free and Expanded Newborn Screening click to enlarge Cynthia M. Powell, MD

October 15, 2018

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 will 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 not enough evidence 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 key evidence that could enable additions to standard newborn screening for these rare but serious conditions and others we might add 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

Cynthia Powell, MD, is Early Check Lead Investigator for the team from the University of North Carolina at Chapel Hill. 

“We understand that parents will be concerned if confirmatory testing determines that their child has one of the conditions.  But the results will also help determine the severity of the condition, and the appropriate next steps.  For SMA, a form of muscular dystrophy, rapid confirmatory testing is important as for the most severe form, early treatment can help prevent rapid decline in muscle strength. A positive result in an infant may have implications for many other family members. So, families who participate in Early Check and have a positive screen will receive genetic counseling.  Additional genetic counseling will be provided to parents of infants who are confirmed to have one of the conditions,” Powell said. 

Primary funding for Early Check has been provided by the National Institutes of Health (NIH), National Center for Advancing Translational Sciences (NCATS), the Eunice Kennedy Shriver National Institute of Child Health and Human Development, The John Merck Fund, CureSMA, and Asuragen. NCATS is the funding agency for the North Carolina Translational and Clinical Sciences (NC TraCS) Institute -- the UNC-Chapel Hill home for the NIH's Clinical and Translational Sciences Awards (CTSA) Program.

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

About the Partners

RTI International is one of the world’s leading research institutes, dedicated to improving the human condition by turning knowledge into practice. Our staff of more than 3,700 provides research and technical services to governments and businesses in more than 75 countries in the areas of health and pharmaceuticals, education and training, surveys and statistics, advanced technology, international development, economic and social policy, energy and the environment, and laboratory testing and chemical analysis.

North Carolina State Laboratory of Public Health provides certain medical and environmental laboratory services (testing, consultation, and training) to public and private health provider organizations responsible for the promotion, protection, and assurance of the health of North Carolina citizens.

The University of North Carolina at Chapel Hill, the nation’s first public university, is a global higher education leader known for innovative teaching, research and public service. A member of the prestigious Association of American Universities, Carolina regularly ranks as the best value for academic quality in U.S. public higher education. Now in its third century, the University offers 77 bachelor’s, 111 master’s, 65 doctorate and seven professional degree programs through 14 schools and the College of Arts and Sciences. Every day, faculty, staff and students shape their teaching, research and public service to meet North Carolina’s most pressing needs in every region and all 100 counties. Carolina’s more than 322,000 alumni live in all 50 states, the District of Columbia and 165 countries. More than 175,000 live in North Carolina.

Duke University enrolls more than 15,000 undergraduate, graduate and professional students and is regarded as one of America’s leading research universities. Its 10 graduate and professional schools are among the leaders in their fields, and the university’s health system combines clinical care, research and education. With more than 36,000 employees, Duke is the third largest private employer in North Carolina. Duke also is active internationally through Duke Kunshan University in China, the Duke-NUS Graduate Medical School in Singapore and numerous research and education programs across the globe.

Wake Forest School of Medicine is the medical school of Wake Forest University, located in Winston-Salem, North Carolina. It is affiliated with Wake Forest Baptist Medical Center, a nationally recognized academic medical center whose clinical arm is Wake Forest Baptist Health. This integrated enterprise includes educational and research facilities, hospitals, clinics, diagnostic centers, and other primary and specialty care facilities serving 24 counties in northwest North Carolina and southwest Virginia.

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