Muscular Dystrophy Association Co-Sponsors Nomination of Duchenne Muscular Dystrophy to the Newborn Screening Recommended Uniform Screening Panel

Washington, D.C., June 30, 2022 –The Muscular Dystrophy Association released the following statement on today’s nomination of Duchenne muscular dystrophy to the newborn screening Recommended Uniform Screening Panel:

“Today, the Muscular Dystrophy Association is thrilled to officially co-sponsor the nomination for Duchenne muscular dystrophy (DMD) to be added to the Recommended Uniform Screening Panel (RUSP) for newborn screening. This submission, led by Parent Project Muscular Dystrophy (PPMD) and supported by several DMD community organizations, was sent to the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC), which will evaluate the application over the course of the next several months.

The sooner babies are diagnosed with DMD, the better their health outcomes. Today’s milestone is the first step in achieving the Duchenne community’s shared goal to have all newborns be screened for DMD shortly after birth. Currently, the only neuromuscular conditions included in the newborn screening program are spinal muscular atrophy and Pompe disease.

Achieving this major milestone was the result of many years of research and hard work, including a vital pilot study conducted by the RTI International (RTI) that screened newborns born in North Carolina for DMD over the last several years. The data and real-world experience collected from this pilot, as well as pilot studies in New York and Massachusetts, are critical to justifying adding DMD to the national Recommended Uniform Screening Panel. The RTI Early Check Screening Program is funded in part by MDA’s Advocacy Grants Program.

‘Today’s nomination of Duchenne muscular dystrophy to the newborn screening Recommended Uniform Screening Panel represents a huge step forward in accelerating diagnoses and access to care for the DMD community’, said Paul Melmeyer, Vice President, Public Policy and Advocacy. ‘MDA will continue to collaborate with our co-nominators, patient advocacy partners, and the entire Duchenne clinical and research community to make the promise of nation-wide newborn screening a reality.’

As the ACHDNC analyzes this submission, MDA will continue to work to strengthen and improve the existing newborn screening program. This includes urging the U.S. Senate to pass the Newborn Screening Saves Lives Reauthorization Act and making sure newborn screening programs are funded at both the Centers for Disease Control and Prevention and at the Health Resources and Services Administration.”