The U.S. Department of Health and Human Services has added Duchenne muscular dystrophy and Metachromatic Leukodystrophy (MLD) to the federal Recommended Uniform Screening Panel (RUSP)! The RUSP is a list of disorders that the Secretary of the Department of Health and Human Services (HHS) recommend states screen as part of their newborn screening programs. The addition of these diseases by Secretary Kennedy today is a significant milestone for public health, opening the door to more timely interventions and optimized health outcomes for children affected by these rare diseases.
The addition of Duchenne and MLD to the RUSP is the culmination of years of hard work and advocacy from the patient community, with evidence reviews submitted in August 2023 and August 2024 respectively. This process was made all the more difficult due to the dissolving of the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC), which was responsible for advising the HHS Secretary on additions to the federal RUSP. When the ACHDNC was dissolved in April 2025, the Duchenne and MLD communities quickly pivoted to other methods of getting their evidence reviews seen by decision makers. On September 12, 2025, the EveryLife Foundation for Rare Diseases partnered with Parent Project Muscular Dystrophy (PPMD), the MLD Foundation, and the Muscular Dystrophy Association to host a one-of-a-kind Evidence Review Workshop, where the rare patient community was able to present their evidence reviews to key stakeholders with HHS. The formal request for public comment from the Health Resources and Services Administration (HRSA), where the community can give testimony on the importance of adding conditions to RUSP, was closed on September 15, 2025.
As Senator Wicker said, “This is a red-letter day. This is a monumental achievement that will go down in history.”
Years of advocacy have paid off today. We congratulate the rare disease advocates and public health officials who worked tirelessly to make today’s progress possible—and we especially recognize and honor the Duchenne and MLD communities and the patient advocacy organizations who never gave up.
Learn more about newborn screening here.
