New laboratory screening test for fragile X syndrome shortly after birth now ready for pivotal North Carolina Early Check clinical study

Scientific collaboration between RTI International and Asuragen leads to test validation

Team of biotechnologists working in the lab

RESEARCH TRIANGLE PARK, NC and Austin, TX– October 22, 2018 – RTI International, a leading non- profit research institute, and Asuragen, a molecular diagnostics product company, announced today their scientific collaboration using a new, high performance screening technology to test for fragile X syndrome in newborns. The technology will be utilized via high throughput process in North Carolina’s Early Check study, the largest clinical study of its kind.

Early Check is a free screening study designed to identify children with rare health conditions before symptoms appear and study the benefits of early interventions. After receiving the mother’s consent, Early Check reuses the same blood sample taken for regular newborn screening to test for additional rare conditions, including fragile X syndrome, the leading inherited cause of intellectual disability. Until now, screening for fragile X syndrome has been limited by the availability of a high throughput, accurate method that works for both boys and girls

“By using this testing method in Early Check, we will be able to better understand the prevalence of the fragile X gene disorder,” said Don Bailey, PhD, Distinguished Fellow at RTI International and principal investigator for Early Check. “Our goal is to enable studies of the earliest childhood development issues and potential interventions by identifying fragile X syndrome in infants shortly after birth.”

With Asuragen’s technology, newborn testing for the fragile X gene disorder can potentially be done with large numbers of children. “We are proud to partner with RTI International on Early Check,” said Gary Latham, senior vice president Research & Development at Asuragen. “We hope that the use of this technology in such a large-scale study will help to drive how testing of newborns for many genetic disorders can be realized in the future.”