By Diagnostics World Staff
January 30, 2018 | PerkinElmer announced the launch of the first commercially available in-vitro diagnostic (IVD) kit for newborn screening of Duchenne muscular dystrophy (DMD), a progressive, X-chromosome linked neuromuscular disorder with a worldwide average incidence rate of approximately 1 in 5,000 male live births.
With DMD, mutations in the dystrophin gene lead to the absence of functional dystrophin protein in the muscles. Dystrophin supports the mechanical strength of muscle fibers, and its absence leads to progressive muscle weakness and wasting-- eventually resulting in premature death due to respiratory problems and cardiac failure. The progressive breakdown process of skeletal muscle cells releases intracellular creatine kinase (mostly the muscle specific isoform CK-MM) into the circulation, thereby allowing the level of this biomarker in the blood to be used for the early detection of the disorder.
Recent therapeutic developments for DMD, along with new evidence of the importance of early intervention with therapy (such as corticosteroid treatment), have underscored the need for newborn screening of DMD.
PerkinElmer’s GSP Neonatal Creatine Kinase –MM (CK-MM) kit is an immunoassay for measuring CK-MM in newborn babies’ dried blood spot samples. The assay measures CK-MM concentration instead of enzyme activity and therefore is not susceptible to interference from inactivation during the sampling workflow. As the assay is specific to detect the muscle specific isoform, it improves the screening process to find the cases affected by DMD. The kit is available on PerkinElmer’s GSP instrument, a fully automated, high throughput biochemical analyzer that is intended for testing neonatal dried blood spot samples to detect potentially life-threatening conditions in newborn babies and enables highly efficient screening workflow.
Previously, the only available alternative for biochemical assessment of CK levels in dried blood spot samples for newborn screening consisted of non-standardized lab-developed tests based on CK enzyme activity measurement.
“Using CK-MM as a viable marker for Duchenne can lead to advancements in research and potential treatment, providing children opportunities for improved health,” said Linh Hoang, Vice President, Neonatal Screening, PerkinElmer, in a written statement. “Our introduction of the first wide scale IVD assay for routine diagnostic testing for Duchenne can dramatically improve productivity in newborn screening processes for lab professionals. They can expand their menus to include DMD screening efficiently on the GSP.”