Researchers at Cardiff University and Cardiff and Vale University Health Board have developed a more reliable method of screening for Duchenne muscular dystrophy (DMD) in newborn babies.

In collaboration with biotechnology company PerkinElmer, they have developed a diagnostic kit that can accurately screen for the disorder by analysing neonatal dried blood spots.

The new method screens for DMD by detecting an enzyme that is released into the blood when muscle fibres are damaged from the condition. Previous tests of this type were less accurate as they also detected the activity of other forms of this enzyme, two of which are also produced in high levels due to muscle trauma–related injuries, which can lead to false results during screening.

Dr Stuart J. Moat, Consultant Clinical Biochemist and Director of the Wales Newborn Screening Laboratory at the University Hospital of Wales, said: “We found that CK–MM can be reliably quantified in blood spots and believe that developing this CK–MM assay on a commercial immunoassay analyser would enable standardized, high–throughput screening for DMD.”

The new screening method originated from research by Professor Ian Weeks from Cardiff University and Dr Stuart Moat of Cardiff and Vale University Health Board. When PerkinElmer joined the collaboration, the research was successfully adapted to an existing PerkinElmer analyser, allowing it to be translated into a routine test that could be used globally.

PerkinElmer also collaborated with local parties to set up a pilot program in China. In Wisconsin a pilot study is being initiated to evaluate the potential applicability for the US.

The new research titled, “Characterization of a Blood Spot Creatine Kinase Skeletal Muscle Isoform Immunoassay for High–Throughput Newborn Screening of Duchenne Muscular Dystrophy,” was published in the journal Clinical Chemistry.