Researchers at Cardiff University, in collaboration with biotechnology company PerkinElmer, have created a more reliable test to screen newborn babies for Duchenne muscular dystrophy. Together they have developed a diagnostic kit that can analyse neonatal dried blood spots for the presence of Duchenne.

Professor Ian Weeks, Dean of Clinical Innovation and Head of Cardiff University's School of Medicine, said:

"The successful outcome of this study is an example of the impact that can be achieved through collaboration between academic, clinical and industry colleagues in developing improvements in human healthcare."

The new screening method was driven by research from Professor Ian Weeks from Cardiff University and Dr Stuart Moat of Cardiff and Vale University Health Board. PerkinElmer entered the collaboration and the research was adapted to use an existing PerkinElmer analyser, allowing it to be translated into a routine test with the potential to be used around the world.

The research was published in the scientific journal, Clinical Chemistry and the Medical Xpress website has an excellent article going into more detail.

Until 2011, Wales was one of the only countries that offered a newborn screening programme for Duchenne. However this was stopped due to several reasons, including a perceived lack of accuracy with the test available at the time.

In 2016, Action Duchenne responded to the UK National Screening Committee (UKNSC) regarding the potential use of newborn screening in Duchenne. We provided a comprehensive statement responding to their initial analysis not to recommend newborn screening for Duchenne (a summary can be found here) but were disappointed to find out that their final recommendation was not to implement newborn screening for Duchenne.

Action Duchenne Director of Research added;

"Action Duchenne believe that an accurate newborn screening test is vital to ensuring those living with Duchenne can receive the most thorough care, and achieve the best life outcomes possible. As our knowledge of Duchenne improves and potential new treatments are developed, we must be able to deliver those to the people that need them as early as possible."

What are Action Duchenne doing next?

We are encouraged by this development and will be following up with our key stakeholder and charity partners to set a path forward. We will be liaising with the Duchenne community to reflect your views and plan the most appropriate time to re-engage with the UK National Screening Committee on this issue.