Multi-Laboratory Evaluation of Prototype Dried Blood Spot Quality Control Materials for Creatine Kinase-MM Newborn Screening Assays

Paul Dantonio; Norma P Tavakoli; Brooke Migliore; Elizabeth McCown; Timothy Lim; Sunju Park; Michele Caggana; Katerina S Kucera; Han Phan; Natalie Street; Konstantinos Petritis; Robert F Vogt

doi:10.3390/ijns9010013

Multi-Laboratory Evaluation of Prototype Dried Blood Spot Quality Control Materials for Creatine Kinase-MM Newborn Screening Assays

Int J Neonatal Screen. 2023 Feb 28;9(1):13. doi: 10.3390/ijns9010013.

Authors

Affiliations

¹ Newborn Screening and Molecular Biology Branch, Division of Laboratory Sciences, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA.
² Wadsworth Center, Division of Genetics, New York State Department of Health, Albany, NY 12208, USA.
³ RTI International, Research Triangle Park, Durham, NC 27709, USA.
⁴ Department of Pediatrics, Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL 35233, USA.
⁵ Rare Disease Research, Atlanta, GA 30329, USA.
⁶ Birth Monitoring and Research Branch, Division of Birth Defects and Infant Disorders, National Center on Birth Defects & Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA.

Abstract

Pilot studies to detect newborns with Duchenne Muscular Dystrophy (DMD) by newborn bloodspot screening (NBS) have been conducted under the New York State Newborn Screening Program (NYS) and are currently in progress as part of the Early Check Program at Research Triangle Institute (RTI) International. The Newborn Screening Quality Assurance Program (NSQAP) at the U.S. Centers for Disease Control and Prevention (CDC) produced a set of seven prototype dried blood spot (DBS) reference materials spiked with varying levels of creatine kinase MM isoform (CK-MM). These DBS were evaluated over a 3-week period by CDC, NYS, and RTI, all using the same CK-MM isoform-specific fluoroimmunoassay. Results from each laboratory were highly correlated with the relative proportion of CK-MM added to each of the six spiked pools. Based on reference ranges established by NYS and RTI for their pilot studies, these contrived DBS collectively spanned the CK-MM ranges found in typical newborns and the elevated ranges associated with DMD. This set allows quality assessment over the wide range of fluctuating CK-MM levels in typical and DMD-affected newborns.

Keywords: Duchenne muscular dystrophy; dried blood spots; evaluation; newborn screening; specimen quality.

Grants and funding

This research received no funding. The Duchenne pilot study in NYS was funded by Parent Project Muscular Dystrophy, PerkinElmer, Inc. (in-kind support), Pfizer, Inc., PTC Therapeutics, Sarepta Therapeutics, Solid Biosciences, and Wave Life Sciences. The RTI Duchenne and related muscular dystrophies pilot study was funded as a part of the RTI International Early Check Program by Muscular Dystrophy Association, Sarepta Therapeutics, and PerkinElmer, Inc. (in-kind support).