RARE Daily

FDA Approves Amicus’s New Treatment for Adults with Late-Onset Pompe Disease

September 29, 2023

Rare Daily Staff

The U.S. Food and Drug Administration has approved Amicus Therapeutics’ Pombiliti + Opfolda, a two-component therapy indicated for adults living with late-onset Pompe disease who are not improving on their current enzyme replacement therapy.

Late-onset Pompe disease (LOPD) is a rare, debilitating, and life-threatening lysosomal disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA). Reduced levels of GAA lead to the accumulation of the substrate glycogen in the lysosomes of muscle cells and glycogen buildup causes muscle damage. Disease severity ranges across a spectrum, with predominant manifestations such as skeletal muscle weakness and progressive respiratory involvement.

Pombiliti + Opfolda is a unique two-component therapy. Pombiliti is a recombinant human GAA enzyme (rhGAA) naturally expressed with high levels of bis-M6P (Mannose 6-Phosphate), designed for increased uptake into muscle cells. Once in the cell, Pombiliti can be properly processed into its most active and mature form to break down glycogen. Opfolda is an enzyme stabilizer designed to stabilize the enzyme in the blood.

“The FDA approval of Pombiliti and Opfolda is a major milestone for Amicus,” said Bradley Campbell, president and CEO of Amicus. He said Amicus is ready to launch in the United States for all eligible adults living with late-onset Pompe disease who are not improving on their current ERT.

The FDA approval was based on clinical data observed from the phase 3 pivotal study (PROPEL), the only trial in LOPD to study enzyme replacement therapy-experienced participants in a controlled setting.

Amicus Therapeutics will launch Pombiliti + Opfolda immediately in the U.S. The FDA previously granted Breakthrough Therapy designation for Pombiliti + Opfolda. Pombiliti + Opfolda has also been approved for the treatment of adults with LOPD in the European Union and the United Kingdom.

Photo: Bradley Campbell, president and CEO of Amicus

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