Clinical Viewpoint on Newly Approved Combination Therapy for Pompe Disease: Barry J. Byrne, MD, PhD


The chief medical advisor at the Muscular Dystrophy Association gave his reaction to Amicus Pharmaceuticals’ recently FDA approved 2-part therapy for patients living with Pompe disease. [WATCH TIME: 7 minutes]

WATCH TIME: 7 minutes

“I think a lot of the mechanism of action of the combination therapy. It may not address one of the central problems in Pompe disease, the impact of the central nervous system, but it certainly will expand the treatment landscape of options for patients.”

Pompe disease, a lysosomal storage disorder, is characterized by an impairment of glycogen degradation that is caused by a deficiency of the enzyme acid α-glucosidase (GAA).1 In efforts to expand the treatment toolbox, researchers have developed a 2-component therapy for this disease, combining cipaglucosidase alfa and miglustat. Cipaglucosidase alfa is a recombinant GAA enzyme and once in the cell, the enzyme can properly be processed to break down glycogen, while the second part of the therapy, miglustat, stabilizes the enzyme in the blood.

In late September 2023, the FDA approved Amicus Therapeutics’ combination of cipaglucosidase alfa-atga (Pombiliti) and miglustat (Opfolda) as the first and only 2-component treatment for patients with late-onset Pompe disease.2 The therapy, which is already approved in the European Union and United Kingdom, is indicated for adults with the disease who weigh at least 40 kg and who are not improving on their current enzyme replacement therapy. The US approval was based on the phase 3 PROPEL study (NCT03729362) where the combined therapy achieved a nominally statistically significant and clinically meaningful 3% mean improvement in percentage predicted forced vital capacity for superiority over approved therapy (P = .023)

Recently, Barry J. Byrne, MD, PhD, associate chair of pediatrics, and director, Powell Gene Therapy Center, University of Florida; and chief medical advisor, Muscular Dystrophy Association, sat down in an interview with NeurologyLive® to share his reactions to the approval of the combination therapy. He talked about how Amicus Pharmaceuticals' 2-part therapy approach adds to the treatment landscape for Pompe. Bryne also spoke about the potential benefits of reducing infusion reactions in the disease and explained the role of newborn screening in shaping the future of Pompe Disease care.

1. Fiege L, Duran I, Marquardt T. Improved Enzyme Replacement Therapy with Cipaglucosidase Alfa/Miglustat in Infantile Pompe Disease. Pharmaceuticals (Basel). 2023;16(9):1199. Published 2023 Aug 23. doi:10.3390/ph16091199
2. Amicus Therapeutics announces FDA approval and launch of new treatment for Pompe disease. News release. September 28, 2023. Accessed October 4 2023.
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