The Benefits of a New Therapy for Pompe Disease: Tahseen Mozaffar, MD, FAAN

WATCH TIME: 3 minutes

“The biggest advantage here would be that, rather than being dependent on an exogenously delivered enzyme that has to be given every 2 weeks with a significant amount of infusion-related reaction, plus a time commitment—because the infusion takes about 4 hours—you would be in a situation where your body is producing its own enzyme, either in the liver or in the muscle.”

Pompe disease is a rare neuromuscular disorder affecting 1 person in every 40,000, with approximately 1 out of every 28,000 babies in the US born with the condition. Currently, the only available treatment is enzyme replacement therapy (ERT), which has risk of infusion-related reaction and requires biweekly administration.

AT845 (Astellas Pharma), an investigational adeno-associated gene replacement therapy offers another approach, delivering a functional GAA gene to express acid alpha glucosidase directly into muscle cells. An ongoing study, the phase 1/2 FORTIS trial (NCT04174105), is evaluating the treatment in adults with late-onset Pompe disease, with positive interim safety data from 4 patients announced by the company in February.

Tahseen Mozaffar, MD, FAAN, director, UC Irvine-MDA ALS and Neuromuscular Center, director, Division of Neuromuscular Diseases, Neurology School of Medicine, and professor of neurology, pathology, and orthopaedic surgery, University of California, Irvine, spoke with NeurologyLive^® on this data, emphasizing the benefits it may offer patients with Pompe disease, with investigators anticipating the efficacy of AT845 to be higher than that of ERT. Mozaffar further discussed challenges and areas for future research in Pompe disease, noting the potential mRNA approach, which was used by Pfizer/BioNTech and Moderna for their respective COVID-19 vaccines.