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

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

doi:10.3390/ijns5030027

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.

Highlights

Duchenne muscular dystrophy (Duchenne/DMD) is an X-linked rare disease, affecting approximately 1:5000 live male births worldwide) [1,2]
The study evaluated the effect of gestational age, age of infant at time of sampling and how stable the creatine kinase (CK)-MM was over time
This paper presents an exploration of the use of a novel immunoassay to quantitatively determine CK-MM concentration in dried blood spot (DBS) to screen newborns for Duchenne

Summary

Introduction

Duchenne muscular dystrophy (Duchenne/DMD) is an X-linked rare disease, affecting approximately 1:5000 live male births worldwide) [1,2]. DMD occurs as a result of mutations in the dystrophin gene that leads to an absence or reduction of the functional protein dystrophin and is manifested by progressive muscle degeneration [3]. DMD is characterized by progressive deterioration of muscle strength, and individuals with Duchenne typically require a wheelchair by their teens and have progressive upper limb weakness and cardiopulmonary involvement throughout their teen years and early 20s. The elevation of CK in serum of DMD patients was first reported long ago [8,9] and detection of an elevated serum CK is currently one of the most common signs that trigger the suspicion of the diagnosis of muscle damage or a neuromuscular disorder [7,10,11]

Methods

Results

Conclusion