Duchenne muscular dystrophy (DMD) stands as one of the most prevalent and severe forms of muscular dystrophies, impacting approximately 1 in 3,500 boys globally.¹ This debilitating condition, characterized by progressive muscle weakness and wasting, stems from mutations in the gene coding for the dystrophin protein.

This protein is essential for maintaining the structural integrity of muscle cells.² While DMD predominantly affects males due to its X-linked recessive inheritance pattern, some female carriers may also exhibit symptoms, ranging from mild muscle weakness to more severe manifestations.³ Early detection and intervention are crucial in managing this condition, and at Revvity, we are committed to advancing newborn screening to improve patient outcomes and the lives affected by DMD.

The importance of early detection/intervention with DMD

The irreversible nature of muscle damage in DMD, where muscle tissue is gradually replaced by fat and fibrosis, underscores the urgency of initiating treatment at the earliest possible stage. Despite efforts to enhance early detection, children with DMD are still today diagnosed as late as at 4-5 years of age on average.⁴ Newborn screening for DMD enables healthcare providers to intervene when the disease is in its initial stages, preserving more muscle function and enhancing the quality of life for affected individuals.

Treatments for DMD

Management of DMD typically involves a multidisciplinary approach, and early diagnosis and intervention have been proven to improve quality of life and give the family time to make informed decisions about family planning and enrolling in clinical trials. Treatments have been rapidly advancing in recent years. There are currently eight FDA-approved treatments for Duchenne, including one gene therapy, and several mutation-specific therapies.

The role of creatine kinase (CK-MM) in DMD screening

Creatine kinase (CK) is an enzyme mostly found in muscle cells, with the CK-MM isoform being specific to skeletal muscles. Elevated levels of CK-MM in the blood are indicative of muscle damage, making it a critical biomarker for detecting DMD in newborns.⁵ Revvity’s GSP™ Neonatal Creatine Kinase -MM kit utilizes this biomarker to facilitate early screening. This immunoassay measures CK-MM levels in dried blood spot (DBS) samples, providing a reliable and efficient method for identifying newborns at risk for DMD.

Implementing DMD screening programs with Revvity

Screening for DMD typically involves CK-MM measurement serving as a primary indicator. Laboratories equipped with the GSP instrument and the GSP Neonatal CK-MM kit can effectively screen newborns for elevated CK-MM levels.

Here are the key considerations for implementing a DMD screening program:

Essential components for the CK-MM assay

To perform the CK-MM assay, laboratories need the GSP instrument, Revvity Puncher, the GSP CK-MM kit, an Inducer, and Wash Concentrate. These tools enable robust analysis from a single DBS punch, ensuring efficient and accurate screening in a high-throughput newborn screening laboratory.

Establishing screening cut-offs

The rate of positive screens for DMD can vary, with published CK-MM data suggesting a range from 0.1% to 0.9%, averaging around 0.5% depending on the screening algorithm. Each laboratory must establish its own cut-off levels to ensure accurate identification of at-risk newborns. Age specific CK-MM cut-offs can increase the specificity of DMD newborn screening. Implementing a second-tier CK-MM test from a repeat DBS sample before confirmatory genetic testing may help to reduce the number of false positives results.

Revvity’s solution for automating and simplifying your DMD screening program.

The GSP instrument is a highly efficient system for screening newborns for Duchenne Muscular Dystrophy (DMD) using Revvity's advanced solution.

Its automated, user-friendly design makes it easy to implement in any laboratory setting. 
By integrating seamlessly into existing workflows, the GSP instrument simplifies the screening process, helping to detect newborns at risk for DMD.

Proven in numerous successful screening programs and pilots, the GSP instrument offers a streamlined and efficient approach to newborn screening for DMD.

Confirmatory testing for screen positives

Screen positive results for DMD should be confirmed through genetic testing of the dystrophin gene or additionally through neuromuscular gene panels, which can be conducted directly from DBS samples. In some regions such as the US, Revvity Omics offers genetic testing services, and alternative sample types such as saliva and whole blood can also be used

Extensive services and all-inclusive support from Revvity

Through our inhouse experts in newborn screening, we can help you to optimize your DMD screening program that meets the specific needs of your laboratory infrastructure and workflow.

The ways in which we can do this include:

• Community knowledge-sharing initiatives: Revvity has a long history of building customer learning networks and knowledge-sharing initiatives through online programs and global scientific events.
• Consultation: Providing unparalleled knowledge and depth of expertise with over 75 years of experience, Revvity is a company you can count on to be there when you need us!
• Training: Our training team offers diagnostics product training courses for customers. Training is conducted by product managers and specialists from customer and technical support, software services and R&D. We aspire to meet your high level of training expectations and to give you the best possible training experience.
• Service excellence: Revvity’s diagnostics service team comprises trained and certified engineers who have an average of 15 years of experience maintaining Revvity and partner equipment.
• Customer support: Our product specialist and technical support teams provide country and regional support. That’s why Revvity is able to provide the best service in the industry.

Conclusion: Revvity’s commitment to advancing DMD screening

At Revvity, we are dedicated to providing innovative solutions that enhance newborn screening programs. Our GSP® Neonatal Creatine Kinase -MM kit and GSP® instrument offers a proven, easy-to-implement and automated method for early detection of DMD, enabling timely intervention that will improve the lives of affected children.

By implementing comprehensive DMD screening programs, laboratories can play a pivotal role in combating this debilitating condition and making a positive impact on patient outcomes.

Together, let's unite towards improving patient outcomes and make a positive impact on the lives of those affected by DMD. For more information, please contact your local Revvity representative or visit our website at www.revvity.com.

Early detection improves the lives of children affected by DMD. Join us in this critical mission.