Members of the PPMD community provided testimony today during the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) quarterly meeting, voicing support for adding Duchenne to the Recommended Uniform Screening Panel (RUSP) for newborn screening. These meetings serve as opportunities for the committee to discuss potential recommendations to the Secretary of the U.S. Department of Health and Human Services (HHS) regarding conditions to add to the RUSP.

The ACHDNC Committee gathered today as according to statute, the Committee must vote on the Duchenne newborn screening package within nine months of the initiation of its evidence review period, which began August 2023. Today’s agenda included a public comment portion for testimony, an update by the evidence review committee, and a vote on next steps for the Duchenne package.

Public Comment Testimonies

During the open public comment portion of the meeting, Duchenne parents Marit Sivertson, Jason Dempsey, and Chris Curran provided testimony, sharing their families’ experiences with the Duchenne diagnostic odyssey and emphasizing the many benefits of early diagnosis. In written comments, PPMD President and CEO Pat Furlong pointed to the success of PPMD’s newborn screening pilot in New York State and efforts to add newborn screening panels for Duchenne in Ohio, New York, and Minnesota. Additionally, Dr. Crystal Proud, a pediatric neurologist with Children’s Hospital of The King’s Daughters,highlighted the critical importance of early diagnosis and intervention in improving outcomes for Duchenne patients.

In advance of the meeting, PPMD and the Muscular Dystrophy Association (MDA), as the nominators of the Duchenne package, requested that the committee delay the vote on adding Duchenne to the RUSP until later in the year, as crucial data that may support the package is anticipated to become available for the committee’s consideration in the near future. PPMD’s Director of Advocacy Lauren Stanford and MDA’s Executive Vice President of Public Policy and Advocacy Paul Melmeyer also provided testimony in support of both the addition of Duchenne to the RUSP as well as a brief delay on the vote to do so. 

ACHDNC Delays Vote: What’s Next? 

Today, the ACHDNC Committee unanimously voted to postpone its decision for up to one year on whether to recommend Duchenne for inclusion on the RUSP until additional evidence is available to make a decision. PPMD is actively working with key opinion leaders (KOLs) and clinicians to bring forth additional data and we anticipate learning more from the states who have and will begin screening. We are appreciative to the ACHDNC for recognizing our request for a delay to allow for a more comprehensive consideration of additional data, and extend our heartfelt gratitude once again to the families and experts who shared their testimonies today.

During her remarks, PPMD’s Lauren Stanford stated, “The addition of Duchenne to the RUSP will not only ensure that future babies born in the U.S. will avoid the irreversible consequences of the diagnostic odyssey, but it will also enable opportunities to introduce timely interventions during optimal therapeutic windows.” 

PPMD is currently driving multiple projects aimed at enhancing the body of evidence supporting newborn screening for Duchenne. Included in those efforts is 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. Last week, PPMD announced a $250,000 award to help bolster standardized capture of data for newborns identified at birth. In addition, we are engaging clinical leaders to further efforts in establishing evidence-based clinical care for newborns diagnosed with Duchenne at birth. PPMD remains committed to advancing these critical efforts as we continue to strengthen evidence for review and work through solutions for long term data collection and care standards now in anticipation of newborn screening adaptation. 

GET INVOLVED

As the Duchenne RUSP package continues through the evidence review period, we will need help from the community in supporting state and federal newborn screening efforts. If you are interested in sharing your story or contacting your state elected officials, please fill out this interest form or reach out to Lauren Stanford at lauren@parentprojectmd.org with any questions.