Priya Kishnani, MD, Professor of Pediatrics at the Duke University School of Medicine, discusses the two annual events Duke University hosts for patients with Pompe disease.
Pompe disease is a rare inherited lysosomal disorder due to inadequate levels of acid alpha-glucosidase (GAA). This results in the accumulation of glycogen in the body and causing damage – particularly to muscle tissue. There are two broad types of Pompe disease, a more severe infantile-onset Pompe disease and more broadly defined late-onset disease. As the two types can dramatically differ in symptom severity and the types of specialists required, Dr. Kishnani and her team at Duke University have two patient meetings each year – one for children with Pompe disease (in July 2023) and one for adults with Pompe disease (April 2023).
The 2023 Adult Pompe Patient Meeting is being held April 21-22, 2023. To register for the two day event, click here – https://duke.qualtrics.com/jfe/form/SV_9L8AKXI1TD4EVF4
To learn more about Pompe disease and other genetic disorders, visit checkrare.com/diseases/congenital-and-genetic-conditions/