FDA Authorizes First Test to Aid in Newborn Screening for Duchenne Muscular Dystrophy

The Food and Drug Administration (FDA) has authorized marketing of the 1st test to aid in newborn screening for Duchenne Muscular Dystrophy (DMD). The test (GSP Neonatal Creatine Kinase—MM; PerkinElmer, Inc., Waltham, MA) works by measuring the concentration of the CK-MM protein, which is part of creatine kinase. Muscle damage increases CK-MM serum levels. 

For the screening, blood is taken from an infant’s heel and collected on a newborn screening card. The FDA evaluated data from a clinical study of 3,041 newborns whose dried blood samples were tested for protein levels associated with DMD. In the study, the test identified the 4 newborns who had DMD causing genetic mutations.  

“Diagnostics that can safely and effectively screen newborns can help healthcare professionals identify and discuss potential treatment options with parents and caregivers before symptoms or effects on a baby’s health may be noticeable,” said Tim Stenzel, MD, PhD, director of the Office of In Vitro Diagnostics and Radiological Health at the FDA Center for Devices and Radiological Health. “This authorization reflects our commitment to fostering innovation in devices to help inform and provide options to patients and their caregivers. Early screening can help identify individuals who need additional follow-up or treatment.”