On Saturday, June 8th, PPMD convened a vital meeting of physicians, physical therapists, genetic  counselors, data scientists, and other key opinion leaders to discuss the development of data infrastructure and care planning for newborns that screen for  Duchenne through state mandated programs.  This meeting featured representatives from Ohio, Minnesota, and New York—the three states that have already passed laws adding Duchenne to their newborn screening panels. The primary focus was to ensure best practices for data collection are established as Duchenne newborn screening is added to state mandated screens across the country. 

A Pivotal Moment for Duchenne Newborn Screening

The timing of this meeting was crucial. With Duchenne already added to the screening panels in three states—and several other states showing strong interest—alongside the ongoing RUSP (Recommended Uniform Screening Panel) evidence review at the federal level, it is imperative to establish agreed-upon standards for the care of babies and toddlers, as well as a parallel data collection infrastructure. 

This meeting follows PPMD’s announcement of a $250,000 grant to Bo Hoon Lee, MD, from the University of Rochester. The grant supports the development of a clinical research network for Duchenne babies identified through newborn screening in New York State (NYS). A significant portion of the meeting focused on Dr. Lee’s project, known as Baby Duchenne. This initiative aims to establish a collaborative clinical network and database to enroll and prospectively follow all babies identified by newborn screening in NYS with genetically confirmed Duchenne. The network will provide an essential early natural history of Duchenne, enhance our collective understanding of the benefits of early diagnosis, support national newborn screening efforts, and inform clinical trial designs for very young Duchenne patients.

We are hopeful that this network will provide a turnkey example for both site infrastructure and data collection for other states as they come online. 

Continued Collaboration and Next Steps

During the meeting, the group of experts unanimously agreed on the importance of continued collaboration as the plans for Baby Duchenne are developed. The meeting provided an arena for a clinician and provider controlled process to move forward with equity and patient needs top of mind. This ongoing cooperation will be instrumental in laying the groundwork for a comprehensive, nationwide approach to Duchenne newborn screening, ensuring that best practices and standardized collection protocols are in place to support families and advance research.

PPMD remains committed to leading these efforts, fostering partnerships, and securing the necessary resources to make Duchenne newborn screening a reality across the United States. The progress made at this meeting marks a significant step forward in our mission to improve the lives of those affected by Duchenne.