DALLAS—Newborn screening for Duchenne muscular dystrophy (DMD) and Pompe disease may eventually expand nationwide, according to a presentation made at the 2025 Muscular Dystrophy Association (MDA) Clinical & Scientific Conference.
“We are seeking to expand Pompe and Duchenne screening beyond where they are today . . . We’re getting close to having all 50 states and territories screen for Pompe disease,” said Paul Melmeyer, executive vice president of public policy and advocacy at the MDA .
In the US, each state determines which conditions to include in its newborn screening program. The Recommended Uniform Screening Panel (RUSP) is a list of conditions recommended for screening, provided to states by the US Secretary of Health and Human Services. The Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) submits recommendations for condition additions to the Secretary.
MDA supports these efforts by funding research, engaging in public policy and advocacy, and collaborating with those in the neuromuscular disease sphere. The group is aiming to have both DMD and Pompe disease added to the RUSP.
“We are hopeful that in May, the [ACHDNC] will . . . vote to recommend Duchenne muscular dystrophy for newborn screening. Currently, four states have approved screening for Duchenne,” Melmeyer said. “We’re expecting . . . additional states to approve screening for Duchenne muscular dystrophy.”
A DMD newborn screening measures CK-MM, also known as creatine phosphokinase (CPK). A lack of dystrophin leads to muscle membrane damage, allowing CK-MM to leak into the bloodstream and be detected through a blood test.
Read more about DMD testing and diagnosis
Currently, Minnesota and Ohio have approved and implemented screening for DMD, while Massachusetts and New York have approved screening but have not yet begun it. California, Georgia, and Illinois have pending legislation awaiting committee approval.
“We saw in January of last year, all 50 states [are] screening for [spinal muscular atrophy]. We saw progress in Pompe disease [newborn screening], and it was within the last calendar year or so that we saw Duchenne muscular dystrophy starting to be screened for in a handful of states.”
For Pompe disease, newborns undergo a blood test to measure GAA enzyme activity. Low activity indicates an increased risk for Pompe disease and the need for further testing.
In 2013, the ACHDNC recommended adding Pompe disease to the RUSP, and the change was approved in 2015. As of September 2023, 45 states, including Washington, DC, have implemented newborn screening for Pompe disease.
