Priya Kishnani, MD, Professor of Pediatrics at the Duke University School of Medicine, discusses ongoing study looking to assess the natural history of babies diagnosed with later-onset Pompe disease.
Pompe disease is a rare inherited lysosomal disorder due to an inadequate level of 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, the advent of newborn screening for Pompe disease has removed that diagnostic odyssey. However, newborn screening for Pompe disease has created some uncertainty regarding when to start treatment in these babies or young children who may not show significant signs. In addition, the natural history of later-onset Pompe disease is currently poorly understood – especially in young children. Therefore, there is a need to collect data on these individuals, as discussed by Dr. Kishnani.
To learn more about Pompe disease and other lysosomal disorders, go to checkrare.com/diseases/lysosomal-storage-disorders/ or https://checkrare.com/the-benefits-of-newborn-screening-for-pompe-disease/