Historic Expansion of Newborn Screening Includes Metachromatic Leukodystrophy (MLD)
We are encouraged to share that the U.S. Department of Health and Human Services (HHS) has officially added Metachromatic Leukodystrophy (MLD) — along with Duchenne Muscular Dystrophy (DMD) — to the federal Recommended Uniform Screening Panel (RUSP) for newborn screening. This decision was announced by HHS Secretary Robert F. Kennedy, Jr. on December 16, 2025, following scientific review and public input.
The RUSP is a national guideline used by states to determine which conditions all newborns should be screened for shortly after birth. While each state ultimately decides which tests to include, the federal recommendation serves as a powerful signal for broad adoption and helps pave the way for earlier diagnosis and care.
What This Means for MLD
Historically, both Duchenne and MLD were often diagnosed years after birth, typically around ages 4–5 — long after symptoms had already caused significant damage.
By adding MLD to the recommended screening panel:
- Newborns nationwide may be tested at birth, increasing the chances of identifying the condition before symptoms appear.
- Families can receive critical information much earlier, allowing for timely access to specialty care and possible treatments at the most effective stages.
- Early detection may reduce years of diagnostic uncertainty, repeated specialist visits, and the emotional and financial burden many families face.
Secretary Kennedy highlighted that early screening helps ensure children “have a fair chance at timely, effective care” and gives families “the answers and treatment options they deserve — right when they need them most.”
Why It Matters
For the leukodystrophy community, this represents a meaningful advancement in rare disease detection and care. Early identification of MLD could make it possible for affected children to access supportive care and emerging therapies much sooner than has historically been the case, potentially improving health outcomes and quality of life.
States will now begin the process of implementing these recommendations into their own newborn screening programs, which may take time and vary by location. However, the federal recommendation is a major step forward in raising awareness, improving early diagnosis, and empowering families with more timely information.
Read the full HHS announcement for more details.
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