Priya Kishnani, MD, Chief, Division of Medical Genetics and Professor of Pediatrics at the Duke University School of Medicine, discusses the Duke Health Rare Disease Center’s work in Pompe disease.
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.
As Dr. Kishnani explains, Duke has been involved in Pompe disease research since the first enzyme replacement therapy (ERT) approved for the disease in 2006 (alglucosidase alfa). As a result, the research team at Duke has a thorough understanding of Pompe disease and how the pathophysiology and natural history of the disease has changed with the standard use of ERT. Duke has also played a large role in the push for Pompe disease to be included in newborn screening panels in all states. Additionally, according to Dr. Kishnani, Duke has paved the way in terms of understanding how to avoid immunological responses to ERT, which has allowed for more therapeutic benefit in Pompe disease as well as other diseases being treated with ERT. Duke continues to expand Pompe research by leading the development of an investigational gene therapy for the disease.
