Implications of Newborn Screening for Duchenne Muscular Dystrophy Care: Brenda L. Wong, MD; Michael Kelly, PhD

WATCH TIME: 7 minutes | Captions are auto-generated and may contain errors.

"From the provider’s perspective, [recommended screening panel] opens up a whole new population in clinic, for which we have seen just some rare baby Duchenne cases. But, I think, it puts consortiums and panels in place to come up with care algorithms and standardized care protocols to monitor this [patient] group."

In December 2025, the U.S. Department of Health and Human Services (HHS) approved the addition of Duchenne muscular dystrophy (DMD) and metachromatic leukodystrophy (MLD) to the Recommended Uniform Screening Panel (RUSP) following scientific review and public input. According to the U.S. Department of HHS, early identification of these disorders could enable pediatric patients to access FDA-approved therapies at a stage when interventions may be most effective, potentially slowing disease progression and preserving quality of life.¹

Pediatric DMD or MLD can be typically diagnosed around 4 to 5 years of age, often after substantial muscle loss or functional decline has occurred. Inclusion of these conditions on the RUSP may allow earlier retention of abilities and reduce the prolonged diagnostic process that frequently involves multiple specialist visits and significant emotional and financial burdens for families. The RUSP, administered by the Health Resources and Services Administration, lists conditions recommended for universal newborn screening; state adoption of these recommendations can influence health outcomes for affected populations.

In a recent interview, NeurologyLive^® spoke with CureDuchenne’s Brenda L. Wong, MD, chief medical advisor, and Michael Kelly, PhD, chief scientific officer, to discuss the clinical and family-level impact of DMD being added to the RUSP. The duo highlighted the expanding treatment landscape and noted that earlier diagnosis aligns with industry trends toward treating younger patients. Both experts underscored that although the growing number of therapeutic options offers hope, it also introduces complexity for clinicians and families navigating mutation-specific treatments, limited long-term data, and evolving clinical trial opportunities.

Registration is now open for the CureDuchenne 2026 FUTURES National Conference, click here.

REFERENCES
1. Secretary Kennedy Adds Duchenne Muscular Dystrophy, Metachromatic Leukodystrophy to Newborn Screenings. News release. U.S. Department of Health and Human Services. December 16, 2025. Accessed January 27, 2026. https://www.hhs.gov/press-room/secretary-kennedy-adds-duchenne-muscular-dystrophy-metachromatic-leukodystrophy-to-newborn-screenings.html