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The Expansion of Newborn Screening in Pompe Disease, Spinal Muscular Atrophy, and Duchenne Muscular Dystrophy may Prevent Disability and Save Lives

MDA Convenes Panel of Experts

NEW YORK, May 20, 2019  /PRNewswire/ -- The Muscular Dystrophy Association (MDA) convened a panel of renowned experts in newborn screening (NBS), Pompe disease, spinal muscular atrophy (SMA), and Duchenne muscular dystrophy (DMD) to examine how the physician community can prepare for the expansion of NBS in neuromuscular diseases. In the review published today in JAMA Neurology, the authors discuss the challenges facing universal implementation of NBS, and the opportunities to prevent a lifetime of chronic disability and maximize the potential of newly available life-saving therapies through early diagnosis and the initiation of treatment before symptoms appear.

The authors explain that in the US, decisions as to which diseases will be screened are made by the states, based on the US Department of Health and Human Services-endorsed Recommended Uniform Screening Panel (RUSP). Considerations for inclusion in the RUSP include evidence of a reliable screening test, approved effective treatment, and how early intervention can reduce morbidity. It may take years for RUSP-approved diseases to be adopted by all states, and each state's approach to adding new diseases to their NBS panel varies.

"Newborn screening is one of the most important and impactful public health programs in the United States," said Dr. Rodney Howell, chairman of the Board for the Muscular Dystrophy Association and professor of Pediatrics and chair emeritus of the Department of Pediatrics at the Miller School of Medicine at the University of Miami. "Since its inception, this program has saved and improved the lives of thousands of children. Its continued expansion to allow for screening for more neuromuscular conditions like Duchenne will benefit many more families by enabling them to receive the care their children need from day one."

To attain the maximum benefits of NBS, careful follow up and continuity of care are essential, along with a well-defined path to communicating NBS results to affected families.

"Once affected babies are identified via state newborn screening programs, MDA Care Centers at more than 150 top medical institutions across the U.S. will play a key role in confirmatory diagnoses, treatment, and long-term follow up and care," says Lynn O'Connor Vos, president and CEO of the Muscular Dystrophy association (MDA). 

The paper concludes that the availability of advanced screening methods, the emergence of effective treatment, and the support of professional organizations may facilitate the expansion of NBS and that going forward, an increasing number of affected infants who are identified as newborns will be able to benefit from impactful, life-saving interventions. 

Authors of the paper are: Mei Baker, MD, University of Wisconsin School of Medicine; Robert Griggs, MD, University of Rochester School of Medicine; Barry Byrne, MD, University of Florida; Anne M. Connolly, MD, Washington UniversitySchool of Medicine; Richard Finkel, MD, Nemours Children's Hospital; Lucja Grajkowska, PhD, Muscular Dystrophy Association; Amanda Haidet-Phillips, PhD, Muscular Dystrophy Association; Laura Hagerty, PhD, Muscular Dystrophy Association; Robert Ostrander, MD, State University of New York Upstate Medical University; Lianna Orlando, PhD, Muscular Dystrophy Association; Kathryn Swoboda, MD, Massachusetts General Hospital, Harvard Medical School; Michael Watson, PhD, American College of Medical Genetics and Genomics; R. Rodney Howell, MD (corresponding author), University of Miami Miller School of Medicine

About the Muscular Dystrophy Association

MDA is committed to transforming the lives of people affected by muscular dystrophy, ALS, and related neuromuscular diseases. We do this through innovations in science and innovations in care. As the largest source of funding for neuromuscular disease research outside of the federal government, MDA has committed more than $1 billion since our inception to accelerate the discovery of therapies and cures. Research we have supported is directly linked to approved, life-changing therapies across multiple neuromuscular diseases. We support the largest network of multidisciplinary clinics providing world-class care at more than 150 of the nation's top medical institutions, and each year thousands of children and young adults learn vital life skills and gain independence at MDA Summer Camp and through recreational programs. For more information visit mda.org.

SOURCE: Muscular Dystrophy Association