MDA recognizes the importance of early diagnosis for neuromuscular disorders to optimize opportunities for effective treatment. This includes supporting initiatives to understand the impact of newborn screening in neuromuscular disorders.
In early March, MDA sponsored an international conference in St. Louis, MO, “Newborn Screening for Neuromuscular Diseases: Improving Patient Outcomes and Evaluating Public Health Impact,” that gathered experts and stakeholders in newborn screening (NBS) from diverse fields, including pediatrics, neuromuscular disease, health policy research, state public health laboratories and industry, such as pharmaceutical companies and those developing newborn screening technologies. The two-day conference was chaired by Drs. Jennifer Kwon and Robert Griggs of the University of Rochester Department of Neurology, who discussed newborn screening for Pompe disease and Duchenne muscular dystrophy (DMD) in the context of implementation of high-quality clinical care.
Drs. Kwon and Griggs advocate for developing a national registry for Pompe and other rare diseases in order to give patients and their medical providers an opportunity to compare and improve their medical care. Pompe disease, for example, is currently screened for in a handful of states and has been recommended for nationwide newborn screening. The disease, characterized by progressive weakening of muscles and damage to other organs, can start in infancy (early onset) or between late childhood and early adulthood (late onset). However, in states that screen for Pompe, patient care after diagnosis is currently variable because there is no central, national resource for follow-up.
In the case of DMD, nationwide newborn screening is not yet in place, but pediatric neuromuscular specialists think that it is just a matter of time. To that end, Dr. Kwon has established a goal to make sure that the care of children identified by that newborn screening is optimal and reasonable. “If we are going to have a mandatory newborn screening program, then we really need to pay attention to how identified patients are cared for.” Patient registries such as the one discussed at the conference compile information on patients’ health that is shared amongst doctors across the country, allowing them to see which treatments are working and to aid them in the design of clinical trials to test new treatments. In the end, registries help set guidelines for treatment that translate to patients receiving the same level of care, no matter where they are in the country.
There is still work to be done in this area, but convening disciplinary experts to discuss best practices and share common goals is something that MDA will continue to support. MDA has more than 150 Care Centers across the United States and in Puerto Rico located at top hospitals and health care facilities. MDA is working with the newborn screen community to identify a strategy to assists with ensuring that infants with neuromuscular disease receive high quality care from the time of diagnosis.