RESEARCH TRIANGLE PARK, N.C. — Early Check is an ongoing partnership between RTI International (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 medical conditions not included in the state’s standard newborn screening. In October 2018, Early Check began testing for spinal muscular atrophy, or SMA for short, a serious neuromuscular disease that may cause early death if not treated.
Over the course of the study, Early Check tested nearly 14,000 newborns born in North Carolina and identified three babies with SMA. Early diagnosis of these babies allowed them to receive life-saving medical treatment without delay. Receiving treatment as early in life as possible leads to better health outcomes in children with SMA.
“We know that not all families sign up to participate and that babies have been born with SMA each year who were not diagnosed until they were older and showing symptoms,” said Cindy Powell, M.D., a Professor of Pediatrics and Genetics at The University of North Carolina at Chapel Hill.
The success of Early Check also helped the North Carolina Newborn Screening Program begin testing for SMA. SMA testing was successfully moved from Early Check to the state lab as of May 1, 2021, meaning that all babies born in North Carolina will now be tested for SMA at birth.
“We are excited to see SMA transition from Early Check to the state’s newborn screening panel so that every baby in North Carolina is screened for this disorder,” said State Laboratory of Public Health Director Scott Shone, PhD. “Doing so will get newborns the medical care they need quickly and will save lives.”
New or expecting parents in North Carolina can still sign their baby up for Early Check at no cost. The program currently screens for Fragile X syndrome, the most common cause of inherited intellectual disability, and Duchenne muscular dystrophy, a genetic disease that causes progressive muscle weakness, and the project team is working on plans to greatly expand the number of disorders screened.
“This has been a great collaboration between RTI, the state of North Carolina, and our university partners,” said Don Bailey, Distinguished Fellow at RTI and the Principal Investigator for Early Check. “Early Check is available to every birthing parent in North Carolina, with tremendous potential for improving the lives of babies with serious health conditions that must be identified early.”
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; Asuragen; the Muscular Dystrophy Association; and Sarepta Therapeutics.