RARE Daily

PPMD Says Decision on Newborn Screening for DMD Delayed

May 10, 2024

Rare Daily Staff

The Advisory Committee on Heritable Disorders in Newborns and Children unanimously voted to postpone its decision on whether to recommend Duchenne muscular dystrophy for inclusion on the Recommended Uniform Screening Panel until additional evidence is available to inform a decision, according to an update from advocacy group Parent Project Muscular Dystrophy.

The Advisory Committee on Heritable Disorders in Newborns and Children makes recommendations to the U.S. Secretary of the Department of Health and Human Services on universal newborn screening tests and related policies, technologies, guidelines, and standards.

During a quarterly meeting of the committee, members of the Duchene muscular dystrophy community expressed support for the inclusion of Duchenne in the Recommended Uniform Screening Panel. The committee in August 2023 began a review of evidence to support inclusion.

However, in advance of the meeting, Parent Project Muscular Dystrophy and the Muscular Dystrophy Association, the organizations that nominated Duchenne muscular dystrophy for inclusion in the panel, requested that the committee delay the vote on adding it until later in the year because crucial data that may support the package is anticipated to become available for the committee’s consideration in the near future.

Parent Project Muscular Dystrophy said it is actively working with key opinion leaders and clinicians to bring forth additional data and it expects to learn more from states that have and will begin screening for the condition.

Parent Project Muscular Dystrophy has ongoing projects aimed at enhancing the evidence supporting newborn screening for Duchenne. Those efforts include an analysis of longitudinal patient data on the impact of early intervention with steroids, with the intent to submit findings of this analysis for publication by late summer.

The group also recently announced a $250,000 award to help bolster standardized capture of data for newborns identified at birth.

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