Newborn screening (NBS) is one of the most impactful public health programs in the United States, especially for the neuromuscular diseases spinal muscular atrophy (SMA) and Pompe disease. Through newborn screening, infants born with these diseases can benefit from therapies early in life, improving their health outcomes. This would not have been possible just a few years ago, when disease-modifying treatments for these disorders were not yet available.
To examine issues related to the promotion, adoption and implementation of NBS for SMA, Pompe disease and potentially Duchenne muscular dystrophy (DMD), the Muscular Dystrophy Association (MDA) recently convened a panel of key opinion leaders. Led by newborn screening expert R. Rodney Howell, M.D., who chairs our board of directors, the panel’s review was published last month in JAMA Neurology.
Early diagnosis and treatment for neuromuscular disorders that can be treated is critical, as the disorders are progressive and, in many cases, fatal. SMA, for example, is the leading genetic cause of death in infants. While only a few short years ago there were no disease-modifying therapies for SMA, today, there are treatment options, including a gene therapy that was recently approved by the Food and Drug Administration. Having two treatment options in short order represents an unprecedented advancement for SMA patients. It is critical that SMA newborn screening is implemented to identify infants born with this condition quickly, so that treatment can be swiftly initiated in order to realize the full benefits to stave off the effects of the disease.
There remain challenges to the adoption of NBS for neuromuscular diseases, which I will discuss later. But first, it is important to explain how NBS is implemented across the United States.
The U.S. Secretary of Health and Human Services recommends a list of disorders that states screen for at birth. This list is known as the Recommended Uniform Screening Panel (RUSP). To be listed on the RUSP, these diseases must undergo a rigorous evidence review by the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). The committee considers the existence of a reliable confirmatory test, availability of an approved effective treatment and evidence that early intervention can reduce morbidity.
Pompe disease was added to the RUSP list in 2015, and SMA was added in 2018. Data collection on DMD is ongoing and will be utilized to nominate its inclusion on the RUSP as soon as sufficient evidence has been gathered to satisfy the rigorous evidence review requirements.
Although there is a national list of disorders, it is ultimately up to each state to determine which disorders they screen for. While 49 states and the District of Columbia screen for at least 31 of the 35 conditions on the RUSP, only 16 states currently screen newborns for Pompe disease, and seven states screen for SMA. We are working to change that through our advocacy efforts, which also support the bipartisan Newborn Screening Saves Lives Reauthorization Act of 2019.
This act will reauthorize the current national newborn screening infrastructure, which expires in September. It will provide funds to states so that they can update and improve their NBS programs, reauthorize the ACHDNC, support NBS initiatives at the Centers for Disease Control and Prevention and National Institutes of Health, and commission a National Academy of Medicine report to make recommendations on modernizing the NBS program and its infrastructure. Each state will still need to add newly approved RUSP conditions to their own NBS program. Many complications may arise on the state level, as discussed in our JAMA Neurology paper, but we are hopeful that the modernization efforts in the act will lay the groundwork to improve the entire NBS program.
The accepted follow up for positive NBS results for SMA and Pompe disease now, and soon DMD, is for the infant to be seen by his or her pediatrician, and then by a neuromuscular specialist so that treatment can begin as soon as possible. Ideally, the child would be referred to one of our 150-plus MDA Care Centers, each of which provides specialized, multidisciplinary care and stands ready to provide the most appropriate treatment and help improve young patients’ qualities of life. Even with the breakthrough treatments now available, lifelong care will be required. Our care centers also participate in clinical trials that may be beneficial, and our new MOVR (neuroMuscular ObserVational Research) Data Hub will enable centers to aggregate and share data on clinical trials, best treatments and best practices.
This is a time of great promise in neuromuscular disease treatment, with the advent of gene therapy, cell-based therapies and other breakthroughs, but if these diseases cannot be recognized and treatment is not initiated at an early stage, many families will suffer.