HHS Adds Duchenne Muscular Dystrophy and Metachromatic Leukodystrophy to Newborn Screening Panel

Secretary Robert Kennedy approved adding Duchenne muscular dystrophy (DMD) and metachromatic leukodystrophy (MLD) to the Recommended Uniform Screening Panel (RUSP), saying early detection will let children receive FDA‑approved therapies at the most effective time and could prevent severe disability or death.

Kennedy, speaking at the Department of Health and Human Services, said the agency acted in response to patient and congressional urging and called newborn screening “not just a medical advancement, but a moral imperative.” He noted an April 2024 FDA approval of a gene therapy for MLD that must be given before symptoms appear to be effective.

The move adds the two conditions to the federal recommendation; states must individually adopt RUSP additions into their own newborn‑screening programs to make the tests routine. Tom Engles, administrator of the Health Resources and Services Administration (HRSA), said HRSA currently funds screening support in 39 states and will work with state public‑health officials and legislatures to help implement the new screens.

Kennedy and other speakers offered incidence figures and context. The secretary said MLD affects about 1 in 40,000 newborns and that Duchenne typically affects about 1 in 5,000 newborn males; he also said the Navajo Nation has a higher observed incidence, about 1 in 2,500. Kennedy urged states to adopt the RUSP recommendation and commended 14 states that have already introduced legislation to align with the federal panel.

Lawmakers and families who have campaigned for expanded screening attended the announcement. Congressman Gus Bilirakis, co‑chair of the Congressional Rare Disease Caucus, said expanded screening will “dramatically improve a child's chances for timely treatment, and in some cases, cures.” Senator Katie Britt and Senators Ron Johnson and Roger Wicker praised the decision and recounted personal meetings with affected families that drove their advocacy.

Family speakers described how earlier detection could change outcomes. Kendra Riley said the expansion offers “a fighting chance” after recounting a family whose one child is in hospice while another benefits from gene therapy. Gary Hamlet described his daughter as among the earliest U.S. pediatric recipients of a gene therapy for MLD and thanked advocates and officials for widening access to newborn testing. Laura McLenn, mother of Jordan, said her son has benefited from multiple FDA‑approved therapies and called the RUSP addition “everything” for families still seeking early diagnosis.

The announcement was followed by a ceremonial signing of an executive memorandum at HHS; the signing formalized the department's approval but does not itself change state practices. The next practical step is state adoption of the RUSP additions and the technical work to add the tests to state newborn screening panels and laboratory workflows.

HHS said it will provide technical assistance to states; specific timelines for statewide adoption were not specified at the event. The department encouraged families and advocates to work with their state health departments and legislators on implementation.