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. 2019 Aug 27;5(3):27.
doi: 10.3390/ijns5030027. eCollection 2019 Sep.

Duchenne Muscular Dystrophy Newborn Screening: Evaluation of a New GSP® Neonatal Creatine Kinase-MM Kit in a US and Danish Population

Anne Timonen  1 , Michele Lloyd-Puryear  2 , David M Hougaard  3 , Liisa Meriö  1 , Pauliina Mäkinen  1 , Ville Laitala  1 , Tuukka Pölönen  1 , Kristin Skogstrand  3 , Annie Kennedy  4 , Sari Airenne  1 , Hanna Polari  1 , Teemu Korpimäki  1
Affiliations

Duchenne Muscular Dystrophy Newborn Screening: Evaluation of a New GSP® Neonatal Creatine Kinase-MM Kit in a US and Danish Population

Anne Timonen et al. Int J Neonatal Screen. .

Abstract

Duchenne muscular dystrophy (DMD/Duchenne) is a progressive X-linked disease and is the most common pediatric-onset form of muscular dystrophy, affecting approximately 1:5000 live male births. DNA testing for mutations in the dystrophin gene confirms the diagnosis of this disorder. This study involves assessment of screening newborns for DMD using an immunoassay for muscle-type (MM) creatine kinase (CK) isoform-the GSP Neonatal CK-MM kit. Comparisons were made with CK activity determination by fluorescence measurement. In addition, the study evaluated the effect of gestational age, age of infant at time of sampling and how stable the CK-MM was over time. This assay discriminates well between normal, unaffected and Duchenne affected populations and is suitable for Duchenne newborn screening.

Keywords: Duchenne muscular dystrophy; creatine kinase; newborn screening.

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Conflict of interest statement

Conflicts of InterestA.T., L.M., P.M., V.L., T.P., H.P. and T.K. are PerkinElmer employees, the other authors declare no conflict of interest.

Figures

Figure 1
Figure 1
The stability of CK-MM in dried blood spot (DBS) specimens stored in a freezer (−20 °C) for a long period of time (years) presented as population median by storage time. A total of 120 sample results per time-point. Dotted line represents the median value of first timepoint.
Figure 2
Figure 2
CK activity (U/L) box plot (a) and CK-MM concentration (ng/mL) box plot (b) of presumed negative (n = 700) and confirmed positive newborn specimens (n = 19) from US population. The highest Duchenne affected samples had CK-MM concentrations above the measuring range of the assay (6.8 to 8000 ng/mL). CK-MM concentration (ng/mL) box plot (c) present the presumed negative (n = 1408) and confirmed positive newborn specimens (n = 16) from Danish population. CK-MM concentration was not elevated in one Duchenne positive sample taken from and preterm newborn with low birth weight (Danish population).
Figure 3
Figure 3
CK-MM concentration (ng/mL) of distribution of presumed negative (n = 1408) and confirmed positive newborn specimens (n = 16). CK-MM concentration was not elevated in one Duchenne positive sample taken from and preterm newborn with low birth weight (Danish population).
Figure 4
Figure 4
CK-MM concentration (ng/mL) by age (unaffected samples from US and Danish populations).
Figure 5
Figure 5
CK-MM concentration (ng/mL) by gestational age (unaffected samples from Danish population).
See this image and copyright information in PMC

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