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Amicus Therapeutics receives FDA approval for new Pompe Disease treatment

The U.S. Food and Drug Administration (FDA) has approved Amicus Therapeutics’ Pombiliti (cipaglucosidase alfa-atga) + Opfolda (miglustat) 65mg capsules. This two-component therapy is indicated for adults living with late-onset Pompe disease (LOPD) weighing ≥40 kg and who are not improving on their current enzyme replacement therapy (ERT).

Late-onset Pompe disease 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.

“Today’s FDA approval of Pombiliti and Opfolda is a testament to the power of science, medicine, and our passionate determination to improve the lives of people living with Pompe disease. This approval embodies our Amicus spirit, passion, and resilience and is a very meaningful step for the Pompe community. I am just so immensely proud of our team, and so very grateful to everyone who has worked to bring this medicine to this approval. Most especially to all of the people living with Pompe around the world,” said John F. Crowley, Executive Chairman of Amicus Therapeutics, Inc.

Bradley Campbell, President and Chief Executive Officer of Amicus Therapeutics, Inc., said: “The FDA approval of Pombiliti and Opfolda is a major milestone for Amicus. We are grateful to the Pompe community, particularly the patients, caregivers, families, researchers, and physicians who have contributed to the development process through their commitment to our clinical studies.

“Today’s approval is also a testament to Team Amicus’ extraordinary dedication to patients and our ability to execute on our vision to bring new therapies to the rare disease community. Our highly experienced team is ready to launch this medicine in the U.S., and we look forward to rapidly bringing this new treatment regimen to 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 ERT-experienced participants in a controlled setting.

“The Pompe community continues to face unmet need and limited treatment options. This two-component therapy is an important new treatment for those adults living with late-onset Pompe disease and not improving on current therapies. I am encouraged by the evidence generated over many years of clinical research studying this therapy for ERT-experienced patients living with late-onset Pompe disease,” said Tahseen Mozaffar, MD, Director of the Division of Neuromuscular Diseases in the Department of Neurology at the School of Medicine at UC Irvine and Director of the UC Irvine ALS and Neuromuscular Center, as well as an investigator for the PROPEL study.

“Today’s FDA approval is an extremely important step and acknowledges the potential of Pombiliti and Opfolda,” said Priya Kishnani, MD, Professor of Pediatrics and Chief of Medical Genetics at Duke University School of Medicine and an investigator for the PROPEL study. “I am grateful that eligible patients with late-onset Pompe disease in the U.S. will now have access to additional treatment options.”

“The FDA approval of Pombiliti and Opfolda represents a long-awaited day for people living with late-onset Pompe disease and advocating for additional therapeutic options,” said Tiffany House, President, Acid Maltase Deficiency Association. “Amicus’ long-standing commitment to the Pompe community and rare disease research has led to the development of an important therapy for the Pompe community because patients will now have options.”

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.


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