PerkinElmer Develops Novel Duchenne Screening Test Using Dried Blood Spots to Detect CK Biomarker

PerkinElmer has developed an improved screening method to test whether newborns may have Duchenne muscular dystrophy (DMD).

The test detects the levels of a specific form of a protein called creatine kinase (CK), a disease biomarker, using dried blood spots from a baby’s blood sample. A report on these findings, “Characterization of a Blood Spot Creatine Kinase Skeletal Muscle Isoform Immunoassay for High-Throughput Newborn Screening of Duchenne Muscular Dystrophy,” appeared in the journal Clinical Chemistry.

Previous assays testing CK levels in newborn screening programs for DMD are non-specific, as they detect the activity of three different forms of the CK protein (CK-MM, CK-MB and CK-BB). Only the CK-MM form is present in skeletal muscle and is higher in boys with DMD due to muscle damage. The protein’s other two forms are produced in high levels due to muscle trauma-related injuries, which could lead to false results during screening.

The new screening test specifically detects the CK-MM protein using blood spots.

The study showed that PerkinElmer’s screening test successfully distinguishes between babies with and without DMD by analyzing concentrations of the CK-MM protein.

In 277 healthy newborns, the mean CK-MM levels in dried blood spots was 155 ng/mL, whereas in babies with DMD, mean concentration came to 5,458 ng/mL — proving that the new test can detect DMD with high sensitivity and specificity in blood spots.

“Our newborn screening technologies have tested over 560 million babies worldwide for a wide range of life-threatening diseases, helping to improve health outcomes,” Linh Hoang, vice president of PerkinElmer’s neonatal screening division, said in an exclusive interview with Bioanalysis Zone. “Our hope is that through research collaborations like this one, we can play an integral role in helping healthcare professionals identify and treat Duchenne as early as possible.”

DMD is characterized by mutations in the gene encoding dystrophin, a protein that plays a major role in keeping the muscles intact. When the gene is mutated, muscle cells cannot work properly. In turn, muscle cell movement triggers inflammation, which gradually destroys these cells. One in 5,000 boys is born with this condition.