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  • No time to lose: the fight for early DMD detection.
No time to lose: the fight for early DMD detection

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Reproductive Health

No time to lose: the fight for early DMD detection.

A silent start

Imagine being told your child has a life-changing condition, only after years of silent progression. For families affected by Duchenne muscular dystrophy (DMD), that has long been the devastating reality.

DMD is one of the most common and severe muscular dystrophies, affecting about 1 in 3,500 boys worldwide1. Caused by mutations in the dystrophin gene, it leads to progressive muscle weakness, loss of mobility, and ultimately life-threatening complications. Because the condition is X-linked, it primarily affects boys, though some female carriers also develop symptoms.
The tragedy is not only in the disease itself, but how late it is typically detected. Most children are diagnosed around four to five years of age2 long after muscle damage has begun and is far more difficult to reverse. Earlier detection could mean earlier treatment, better preserved muscle function, and more time for families to prepare.

A new window of time

Around the world, newborn screening programs are changing the timeline. By testing in the earliest days of life, clinicians can identify children at risk for DMD long before symptoms appear.
At the center of this progress is a simple but critical biomarker: creatine kinase-MM (CK-MM). This enzyme, released when muscle fibers are damaged, can be measured from just a dried blood spot (DBS). Elevated CK-MM levels in newborns flag the possibility of DMD long before symptoms are visible3.

What early detection means for families

What truly matters is what can be done once the biomarker is detected. Today, families affected by DMD have more options than ever before, from supportive therapies to gene therapy and mutation-specific treatments. By catching the disease earlier, children can be monitored closely, started on interventions sooner, and considered for clinical trials that may extend both quality and length of life.

For parents, the benefits extend beyond treatment. Early knowledge gives families critical time to make informed decisions about care, to connect with support networks, and to plan for the future with greater confidence.

The science behind the screen

At Revvity, we're committed to advancing newborn screening so every child has the best chance at a healthier start. Our solutions help laboratories integrate DMD testing into their workflows with precision, speed, and scalability:

  • GSP® Neonatal CK-MM Kit - a sensitive immunoassay designed to measure CK-MM from DBS samples*.
  • GSP® Instrument* - a high-throughput, automated platform that streamlines workflows*.
  • Revvity Puncher, DELFIA Inducer, and Wash Concentrate - supporting components that ensure efficiency and consistency*.
  • Revvity Omics Services – clinical testing and research using saliva, blood or DBS samples provide families with definitive answers.

These tools don't stand alone. They're backed by our 75-year legacy in newborn screening. Our teams of engineers, scientists and specialists partner with labs every step of the way, through training, consultation and global knowledge-sharing initiatives that build stronger, more connected screening programs.

The broader journey

DMD screening is part of a much larger movement to protect children from conditions where early detection changes everything. The same DBS sample that reveals risk for Duchenne can also be used to test for dozens of other genetic and metabolic disorders, multiplying the reach and value of every program.

By helping laboratories add DMD into existing workflows, we are not only addressing one disease but also advancing a broader mission: giving every child the healthiest possible beginning.

Facing the unknown, together

The story of DMD is just one example of how science must continue to meet the unknown. New conditions will emerge. Existing ones will evolve. Technologies will transform what's possible.
That's why we are committed not only to today's solutions but to tomorrow's challenges, bridging the gap between research, diagnostics, and care so scientists and clinicians are ready for whatever lies ahead.

A healthier start for every child

Every newborn deserves the best possible start. By uniting with laboratories and clinicians worldwide, we're helping make early detection for Duchenne muscular dystrophy a reality, improving outcomes, empowering families, and writing a new story of hope.

At Revvity, we're here for every chapter. Challenge accepted.

For in vitro diagnostic use. * These products are only available where licensed in accordance with the law. Please contact your local representative for availability.

Revvity Omics testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location.

Revvity Inc. does not endorse or make recommendations with respect to research, medication, or treatments. All information presented is for informational purposes only and is not intended as medical advice. For country specific recommendations, please consult your local health care professionals.

Learn more

References:

  1. Duchenne UK website: https://www.duchenneuk.org/Pages/FAQs/Category/what-is-duchenne
  2. Lancet 1999 Feb 2 ,353(9152):557-8.
  3. FDA cleared drugs for Duchenne: https://www.parentprojectmd.org/duchenne-drug-development-pipeline
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