FDA Authorizes Tool For Duchenne Muscular Dystrophy Screening in Newborns

December 12, 2019
Patrick Campbell

The FDA has granted marketing authorization for the GSP Neonatal Creatine Kinase-MM to aid physicians in screening newborns for Duchenne Muscular Dystrophy.

Physicians have a new tool at their disposal after the US Food and Drug Administration’s marketing authorization for a Duchenne Muscular Dystrophy screening test for newborns.

The authorization for the GSP Neonatal Creatine Kinase-MM kit is intended to aid physicians in screening newborns for Duchenne Muscular Dystrophy by evaluating concentrations of CK-MM proteins.

"Diagnostics that can safely and effectively screen newborns can help health care 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 in the FDA's Center for Devices and Radiological Health.

the GSP Neonatal Creatine Kinase-MM kit measures levels of CK-MM from dried blood samples collected from a prick of the newborn’s heel 24 to 48 hours after birth. Elevated levels detected by the kit may indicate the presence of Duchenne Muscular Dystrophy, but a release from the FDA noted results must be confirmed using other testing methods.

Authorization of the GSP Neonatal Creatine Kinase-MM kit is based on the findings of a lineal study that included 3041 newborns whose tired blood samples were tested with the kit. The FDA release noted results demonstrated the ability to accurately identify the four screened newborns that had Duchenne Muscular Dystrophy-causing genetic mutations.

The FDA’s authorization enables laboratories to add the GSP Neonatal Creatine Kinase-MM kit to their newborn screening panel if they choose to do so. The release did note however, this was not a recommendation for Duchenne Muscular Dystrophy to be added to the Recommended Uniform Screening Panel and the kit was not intended for Duchenne Muscular Dystrophy diagnosis or for screening of other forms of muscular dystrophies.

The release from the FDA also detailed potential risks associated with using the kit, including false-negative test results. The kit had previously been reviewed by the FDA through the de novo premarket review pathway, which is a regulatory pathway for low-to-moderate risk devices of a new type.

"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,” Stenzel added.