FDA Okays First Newborn Screening Test for Duchenne MD

Deborah Brauser


December 12, 2019

The US Food and Drug Administration (FDA) has authorized the marketing of the first newborn screening test for Duchenne muscular dystrophy (DMD), the agency announced earlier today.

The GSP Neonatal Creatine Kinase-MM kit (PerkinElmer) measures levels of creatine kinase (CK) from dried blood samples collected from a draw from an infant's heel 24 to 48 hours after birth. Although high levels may indicate the presence of DMD, the FDA notes that the findings would still need to be confirmed with other testing methods, such as muscle biopsies or genetic tests.

"Diagnostics that can safely and effectively screen newborns can help healthcare professionals identify and discuss potential treatment options...before symptoms or effects on a baby's health may be noticeable," Tim Stenzel, MD, PhD, director of the Office of In Vitro Diagnostics and Radiological Health, FDA Center for Devices and Radiological Health, said in a statement.

"This authorization reflects our commitment to fostering innovation in devices to inform and provide options," Stenzel added. "Early screening can help identify individuals who need additional follow up or treatment."

The Agency noted that although labs can now add this test to their newborn screening panel if they want, today's authorization is not a recommendation to add DMD to the Recommended Uniform Screening Panel (RUSP) list of conditions to screen newborns for.

The kit is also "not intended for DMD diagnosis or for screening of other forms of muscular dystrophies," the FDA notes in its press release.

Early Diagnosis Important

Worldwide, DMD occurs in about one in 3600 male infants, although it can sometimes occur in girls. Disease severity and life expectancy varies, but patients commonly die from the disease in their 20s or 30s.

The US Centers for Disease Control and Prevention "advises that early diagnosis could lead to more personalized care for each person living with muscular dystrophy and may give each of them a better chance to reach his or her full potential," the FDA reports.

The GSP kit measures muscle-specific CK in dried blood samples.

"Early screening prevents unnecessary diagnostic odysseys and allows appropriate early interventions and clinical surveillance. Recent therapeutic developments for DMD, along with new evidence of the importance of early intervention with therapy, such as corticosteroid treatment, have underscored the need for newborn screening of DMD," the manufacturer notes on its website.

The kit was reviewed by the FDA through the de novo premarket pathway for low-to-moderate risk devices.

During the process, the Agency assessed clinical trial data on more than 3000 newborns. Four newborns were correctly identified through the kit's process as having DMD-causing genetic mutations.

In addition, the kit accurately identified newborns with clinically confirmed cases of DMD among a sample of 30 infants tested by the device's manufacturer.

Risks linked to kit use include false-negative results. However, on a subset of 173 patients from the clinical trial flagged by the kit as being negative for DMD, genetic testing did not identify any genetic variants caused by DMD, "confirming the negative screening results" by the kit, the FDA noted.

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