Priya Kishnani, MD, Professor of Pediatrics at the Duke University School of Medicine, discusses the benefits that newborn screening for Pompe disease can provide for both the patient and research community.
Pompe disease is a rare inherited lysosomal storage disorder due to an inadequate level of the enzyme acid alpha-glucosidase (GAA) that results in the accumulation of glycogen in the body and causing damage – particularly to muscle tissue. Treatment is available for this condition that can dramatically attenuate disease progression. Since early signs and symptoms of Pompe disease can be misleading, getting an early diagnosis can be difficult until some irreversible damage has occurred. Another advantage to newborn screening is that the diagnosis of late-onset Pompe disease, which can often take years or decades to diagnose, can now be monitored early in the course of the disease to allow better access to early, non-invasive therapies as well as a better understanding of the natural history of this complex disease.
Pompe disease is part of the Recommended Uniform Screening Program (RUSP) and has begun to be included in newborn screening panels in various states. However, not all states have included Pompe disease to their panel. At last count, 22 states have included Pompe disease on their panel.
To learn more about Pompe disease and other lysosomal storage disorders, go to checkrare.com/diseases/lysosomal-storage-disorders/