PerkinElmer Wins FDA Authorization for First Newborn Screening Test for Duchenne Muscular Dystrophy

By MedTech Intelligence Staff

The agency’s move is a win for early screening of a rare genetic disorder, which leads to progressive muscle deterioration.

Yesterday FDA announced that it authorized marketing of a newborn screening test for Duchenne Muscular Dystrophy (DMD). Provided by PerkinElmer, the GSP Neonatal Creatine Kinase-MM kit is the first of its kind. It is a series of tests that aids in the detection of serious diseases and conditions right after birth, and as a result, labs can add this test to their newborn screening panel.

“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, M.D., Ph.D., director of the Office of In Vitro Diagnostics and Radiological Health in CDRH in an agency news release. “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.”

The GSP Neonatal Creatine Kinase-MM kit measures the concentration of the CK-MM protein (creatine kinase), of which elevated levels can indicate the presence of DMD. When results show an elevated level of CK-MM, additional tests can be performed to confirm DMD.

The most common type of muscular dystrophy, DMD occurs due to an absence of dystrophin (a protein that aids in keeping muscle cells intact) and symptoms usually occur between the ages of three and five. Those affected by the disease often must use a wheelchair by early teenage years, and disease progression can be life threatening, with patients succumbing to their disease in their 20s or 30s.

FDA reviewed the kit through the de novo premarket review process. Currently there are no recommendations that DMD is added to the Recommended Uniform Screening Panel, which consists of a list of core and secondary conditions that HHS recommends testing for newborns.

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