On April 3, 2025, the U.S. Department of Health and Human Services (HHS) announced the dissolution of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC), an unexpected development that has left a critical gap in the federal process for reviewing and recommending conditions for the Recommended Uniform Screening Panel (RUSP). For the Duchenne community, and for families affected by many other rare diseases, this disruption came at a pivotal moment. The Duchenne nomination had been in review since 2022 and was scheduled for a final vote during the May 8-9, 2025, meeting.
While the policy landscape has shifted, PPMD remains resolute: we are staying the course to ensure Duchenne receives the proper review it deserves. The urgency of early diagnosis and intervention for Duchenne has not changed, and neither has our commitment to families.
In response to the current absence of consistent federal oversight following the dissolution of the ACHDNC, PPMD is pursuing a set of coordinated strategies to keep Duchenne newborn screening moving forward.
For more information, watch PPMD’s recent webinar.
How We Reach Duchenne Newborn Screening
Evidence Review Completion
A cornerstone of the RUSP nomination process is a robust, evidence-based review. PPMD is committed to ensuring that the Duchenne evidence review—which would have been presented at the May meeting—is completed and shared broadly across stakeholder communities.
We understand that a report will soon be submitted to the Health Resources and Services Administration (HRSA), and we will take all necessary steps to ensure our evidence-based approach receives the attention and review it warrants.
Federal Advocacy Channels
There are still important opportunities to keep newborn screening at the forefront of national attention. PPMD is actively exploring and engaging in a variety of advocacy strategies to maintain momentum and help shape a long-term solution to the current policy uncertainty.
As part of these efforts, we are also supporting initiatives that highlight the broader importance of newborn screening reform. On May 20, 2025, the EveryLife Foundation will host a Newborn Screening Briefing on Capitol Hill—an opportunity to spotlight the National Academies of Sciences, Engineering, and Medicine (NASEM) report released on May 1, 2025, on the future of newborn screening, which calls for modernization and sustained investment in the system.
Strategic Partnerships
We continue to work with our co-nominator, the Muscular Dystrophy Association (MDA), as well as our longtime newborn screening partner, the Everylife Foundation for Rare Diseases. Additionally, we are aligning efforts to ensure an evidence based review from HHS with the Metachromatic Leukodystrophy (MLD) Foundation. The MLD nomination package was also on track for a vote during the May meeting prior to the ACHDNC dissolution. Together, our efforts emphasize the broader implications of this policy gap, and reinforce the need for a swift, transparent pathway forward for all conditions ready for review.
What’s Next
PPMD has always believed that every baby born with Duchenne deserves a timely diagnosis and access to care. The end of the ACHDNC does not signal the end of our fight—it signals a turning point. With strategic partners, clear supportive evidence, and continued advocacy, we are charting a new path forward for Duchenne newborn screening.
We will continue to keep the community updated as this work progresses, and we thank you for your continued support and trust.
The post An Update on PPMD’s Continued Strategy for Advancing Duchenne Newborn Screening appeared first on Parent Project Muscular Dystrophy.