May 31, 2023 / Advocacy,Care,Research

Update on PPMD’s newborn screening efforts

PPMD resubmits RUSP nomination

For the past decade, PPMD has been leading efforts for newborn screening for Duchenne. As part of that process, PPMD, with co-sponsor Muscular Dystrophy Association (MDA), submitted a nomination package to the Recommended Uniform Screening Panel (RUSP), requesting that Duchenne be a condition recommended for nationwide newborn screening, in June 2022. The nomination is reviewed by the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) through a multi-step process with two committee votes along the way. The first vote, which took place following the Nomination and Prioritization review, occurred in February 2023. The Committee discussed Duchenne at length and felt that additional evidence was needed about how much benefit babies would receive from early treatment. The Committee chose not to move Duchenne forward for additional review at that time.  

Soon after that vote, we were able to meet with Committee members and representatives from the Health Resources and Service Administration (HRSA), who oversee the ACHDNC. They provided direction for additional evidence to include in the nomination and encouraged us to resubmit the package as soon as possible. We are thrilled to announce that the nomination for Duchenne newborn screening has been resubmitted! 

The nomination will again go to the Nomination and Prioritization review. The hope is that the Committee will discuss the nomination at their next meeting in August 2023. A “yes” vote at that meeting would mean that the nomination would go to the next level of review, called Evidence Review. That review process can take up to nine months.      

Having Duchenne on the RUSP remains an important goal for PPMD and the Duchenne community. Being on the RUSP shows that there is clear evidence of benefit to the babies and their families for newborn screening of that condition, and some states automatically start newborn screening for conditions once they are added to the RUSP. However, most states have additional processes to add a new condition like Duchenne to their newborn screening, which may include legislation or review by a state advisory board. There are multiple states actively considering Duchenne newborn screening, and PPMD is working to provide information and support to these states and to connect families interested in advocating. If you are interested in working toward newborn screening for Duchenne in your state, please reach out to Lauren Stanford at   

As always, PPMD will continue to support all families affected by Duchenne at every age and stage of progression. Because Duchenne is progressive over time, early treatment is likely to provide optimum benefits. Consequently, PPMD remains committed to newborn screening and equitable early diagnosis for all children with Duchenne.

To learn more about PPMD’s work in newborn screening, click here.

Join Our Mailing List