Creatine kinase‐MM concentration in dried blood spots from newborns and implications for newborn screening for Duchenne muscular dystrophy

INTRODUCTION/AIMS: Creatine kinase‐MM (CK‐MM) is a marker of skeletal muscle damage. Detection of elevated levels of CK‐MM in newborns can enable an early suspicion of the diagnosis of Duchenne muscular dystrophy (DMD) before symptom onset. Our aim was to investigate CK‐MM levels in DMD‐affected and unaffected newborns using an immunoassay that measures CK‐MM concentration in dried blood spots collected for routine newborn screening. METHODS: To validate the assay in our laboratory, CK‐MM measurements and newborn demographic information were collected for 8584 de‐identified specimens and 15 confirmed DMD patients. After analyzing validation data, CK‐MM normal ranges were determined based on age of newborn at specimen collection. Subsequently, the assay was used to measure CK‐MM concentration in 26 135 newborns as part of a consented pilot study to screen for DMD in New York State. Mean and median levels of CK‐MM based on age of collection, in addition to the 2.5th, 50th, 97.5th, and 99.5th percentiles, were recalculated using the validation and screening data sets. RESULTS: Median CK‐MM within 1 hour of birth was 109 ng/mL, rose to a high of 499 ng/mL at 25 hours of age, and then declined to 200 ng/mL at 2 days of life. The median continued to decline more slowly and then stabilized at approximately 40 ng/mL at 1 week of life. DISCUSSION: Because of the marked variability and elevated CK‐MM levels observed within the first days of life, it is important to set multiple CK‐MM age‐related cut‐offs when screening for DMD in newborns.