Rare Disease Report Podcast: FDA Reviews Combination Therapy for Pompe Disease

Pompe disease expert Barry Byrne, MD, PhD, Associate Chair of Pediatrics, Director of the Powell Gene Therapy Center, University of Florida; Chief Medical Advisor, Muscular Dystrophy Association, joins Rare Disease Report host Giuliana Grossi to discuss the characteristics of the inherited, and often times fatal, condition.

"Pompe Disease is a rare but an inherited disorder that affects many, many systems in the body," Byrne said, "particularly related to muscle function and leads to muscle weakness and difficulty breathing over time."

Physicians, patients, and advocates in the Pompe disease community are anticipating a pivotal FDA decision by the end of the day for AT-GAA. The two-part combination therapy for late-onset Pompe disease (LOPD) has the potential to expand the armamentarium of physicians and provide the patient population with another option to manage the condition.

"Certainly, in any rare disease, awareness is important for early identification, and work that the Muscular Dystrophy Association has done to develop that awareness in the neuromuscular community and in the population at large has been enormously helpful in obtaining newborn screening approval for Pompe disease," he explained.

In recent years, many states in the US have begun to screen for Pompe disease at birth, and that's had a meaningful impact on disease management and treatment. Byrne attributes the progress to the growing awareness that's guided providers in including Pompe disease as a possible diagnosis.

"This has been critically important to enable early treatment of the infantile-onset form of the disease, and help reduce the time committed to understanding, in late-onset patients, why they have muscle weakness when it wasn't immediately apparent if they were either late-childhood or early-adulthood."

The FDA has been reviewing both components of AT-GAA with the final decision expected to shared today.

"The drug that's under consideration now by the FDA is a combination of a new protein called cipaglucosidase alfa, and a small molecule drug that's taken by mouth called miglutistat," Byrne explained. "And that two component therapy is designed to prevent the breakdown of the protein therapy in the blood before it reaches the muscle cells and improve its uptake into muscle cells."

As with any novel therapy, there's an adjustment period as providers and patients get more comfortable with the treatment.

"I think all of the medical community is faced with new discoveries in becoming lifelong learners," he said. "So, there's always an opportunity to gain new expertise through podcasts and webinars that are done for providers, and certainly, patient advocates help educate us all the time about what their goals and objectives are."

"We just have to keep listening" Byrne continued, "and trying to provide the best care we can for our patients by being good listeners about 'what are their needs?'"

Barry J. Byrne, MD, PhD

Dr. Barry Byrne has been working in the area of Pompe disease for over 20 years. As a pediatric cardiologist, he's had the opportunity in clinical practice to see patients with early-onset Pompe disease who have unique features of significant and severe cardiomyopathy in early life and is life threatening. Throughout that time he studied both the early-onset and the later-onset disease in research studies, and in my his science laboratory.