Celebrating Milestones and Tackling New Frontiers in Pompe Disease: Priya Kishnani, MD

WATCH TIME: 3 minutes

"The advent of newborn screening is a whole new frontier for our patients with Pompe disease... earlier identification not only of babies with infantile Pompe but also those with late-onset Pompe."

Pompe disease, also known as glycogen storage disease type II, was first described in 1932 by Dutch pathologist Johannes Pompe. This rare, inherited disorder is caused by a deficiency of the enzyme acid alpha-glucosidase (GAA), which is essential for breaking down glycogen in the body’s cells. As a result, glycogen accumulates in tissues, particularly in the muscles and heart, leading to severe, progressive muscle weakness, respiratory failure, and, in many cases, early death. Initially, Pompe disease was recognized as a fatal condition with no treatment options, leaving patients with limited hope for survival or improvement.

The progress in treating Pompe disease has been groundbreaking, particularly since the approval of enzyme replacement therapy (ERT) in 2006. This therapy, which involves infusing a synthetic form of the missing enzyme, has significantly improved survival and quality of life for patients. Over the years, additional therapies have been developed, including next-generation treatments like avalglucosidase alpha and cipaglucosidase alpha, offering hope for even better outcomes.

At the 2025 Muscular Dystrophy Association (MDA) Clinical & Scientific conference, held March 16-19, in Dallas, Texas, Priya Kishnani, MD, gave a talk on the advancements in the treatment of Pompe disease, with a focus on the historical journey of ERTs. In an interview with NeurologyLive®, she overviewed her presentation, emphasized the impact of ERTs in improving patient outcomes, and the emerging role of newborn screening in early detection of the disease. Kishnani, professor of pediatrics and division chief of Medical Genetics at Duke, also discussed the ongoing challenges with ERTs, such as tissue targeting limitations and immune responses, which are the focus of current research.

Click here for more MDA 2025 coverage.