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Muscular Dystrophy Association Celebrates FDA Approval of Amicus Therapeutics' Pombiliti + Opfolda for Treatment of Pompe Disease

NEW YORK, September 28, 2023 -- The Muscular Dystrophy Association (MDA) celebrates the US Food and Drug Administration (FDA) approval of Pombiliti™ (cipaglucosidase alfa-atga) + Opfolda™ (miglustat) 65mg capsules for adults living with late-onset Pompe disease (LOPD). This two-component therapy is indicated for adults weighing ≥40 kg who are not improving on their current enzyme replacement therapy (ERT), and is the first and only two-component therapy for elibible adults with LOPD. Pombiliti™ + Opfolda™ will be made available and marketed in the United States by Amicus Therapeutics.

Pombiliti™ + Opfolda™ is a novel two-component therapy consisting cipaglucosidase alfa-atga, a long-term enzyme replacement therapy (ERT), and miglustat, an oral enzyme stabilizer. Pombiliti™ is a unique recombinant human acid alpha-glucosidase (rhGAA) enzyme with optimized carbohydrate structures designed to enhance uptake into muscle cells. Once in a cell, Pombiliti™ can be processed into its most active and mature form to break down glycogen, while Opfolda™ helps stabilize the enzyme and minimize the loss of enzyme activity in the blood. In clinical studies, Pombiliti™ + Opfolda™ was associated with demonstrated improvements in both musculoskeletal and respiratory measures, and was the first investigational treatment for Pompe disease to be granted breakthrough therapy designation from the FDA in 2019.

Images of an open perscription bottle with pills spilling out.
Muscular Dystrophy Association celebrates FDA approval of Amicus Therapeutics' Pombiliti™ + Opfolda™ for treatment of late-onset Pompe Disease.

"We are extremely pleased with the recent approval of Pombiliti and Opfolda,” said Sharon Hesterlee, Ph.D., Chief Research Officer, MDA. “MDA funded the foundational work at Duke University that contributed to the development of the first drug approved for Pompe, Myozyme, and it’s gratifying to see the evolution of new therapies. MDA will continue to stand by the Pompe community in support of these efforts.”  

“The opportunity to have additional options for treatment of Pompe disease is always a benefit,” said Barry Byrne, M.D., Ph.D., Chief Medical Advisor, MDA and Director of the UF Health Center for Advanced Therapeutics and Powell Gene Therapy Center. “Given the mechanism of action for the 2-component therapy, Pombiliti™ (cipaglucosidase alfa-atga) used in combination with Opfolda™ (miglustat), we expect some patients to have additional benefit compared to conventional therapy. In general, there is an early response in clinical studies with changes seen in the first 12 weeks. Following the initial response, there is stabilization of muscle and respiratory function.”

“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.

“The approval of Pombiliti and Opfolda provides another option for patients with Pompe disease,” said Paul Melmeyer, Vice President, Public Policy and Advocacy, MDA. “We are grateful to the Pompe community who have helped advance this therapy, especially the patients and families who participated in clinical trials. Pombiliti and Opfolda has the potential to become the next standard of care in Pompe disease and should make a true difference in the lives of patients and their families.”

About Pompe Disease

Pompe disease, also known as acid maltase deficiency, is a rare inherited degenerative muscle disorder that affects approximately 3,500 people in the US. Pompe disease results from mutations in the gene encoding the acid alpha-glucosidase (GAA) enzyme, which plays a role in the body’s ability to break down the complex sugar glycogen. Mutations in the gene reduce or completely eliminate GAA enzyme, leading to the accumulation of glycogen in the body. Glycogen builds up and damages muscle cells, particularly in the heart and skeletal muscles. This can lead to muscle weakness and premature death from respiratory or heart failure. The severity of the disease and the age of onset are both related to the degree of enzyme deficiency. Pompe affects an estimated 1 in every 40,000 births, although the incidence is increasing as more newborns are screened for the disease.

Pompe is classified into 2 subtypes: infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD). In IOPD, symptoms typically appear during the first year of life and tend to progress very quickly. With LOPD, symptoms may not be apparent right away, and can mimic those of other disorders. LOPD is typically diagnosed in children older than 1 year of age and as late as the second to sixth decade of life, depending on when disease symptoms manifest. Individuals with LOPD may not develop any noticeable symptoms until adulthood, making it possible for someone with Pompe to go decades without being diagnosed. In late-onset disease, the median age at diagnosis has been reported at 38 years, with most experiencing a substantial delay between the initial onset of symptoms and the eventual diagnosis of the disorder.

Clinical trials support approval of Pombiliti + Opfolda

The FDA based its approval on clinical data from the global Phase 3 pivotal study (PROPEL), the only randomized, controlled trial in LOPD to include patients previously treated with enzyme replacement therapy (ERT) in the high unmet need population, in addition to ERT-naïve patients. 52-week, double-blind study was designed to assess the efficacy, safety and tolerability of Pombiliti™ + Opfolda™ compared to the current standard of care, alglucosidase alfa, an approved ERT marketed under the name Lumizyme in the U.S., and Myozyme elsewhere. Findings from PROPEL showed that Pombiliti™ + Opfolda™ demonstrated significant improvements in the key domains of Pompe disease, i.e., muscle strength, pulmonary and motor function, patient reported outcomes and biomarkers. Peer reviewed results from the PROPEL show treatment with the Pombiliti + Opfolda provided clinically meaningful improvements over standard of care, including ERT experienced patients.

Muscular Dystrophy Association's funding in Pompe research

Since its inception, MDA has invested more than $5 million in Pompe Disease research, including nearly $500,000 in research grants in the last five years. This year, as part of the MDA 2023 Young Investigators Awards, Dr. Andrea Armani of the University of Zurich was awarded $210,000 for his project involving ground-breaking methodology for unraveling hidden signals at the onset of Pompe pathogenesis, with the expectation of finding novel potential targets to boost current traditional enzyme replacing therapies. For more information, please visit MDA research. 

About Muscular Dystrophy Association

Muscular Dystrophy Association (MDA) is the #1 voluntary health organization in the United States for people living with muscular dystrophy, ALS, and related neuromuscular diseases. For over 70 years, MDA has led the way in accelerating research, advancing care, and advocating for the support of our families. MDA's mission is to empower the people we serve to live longer, more independent lives. To learn more visit and follow MDA on Instagram, Facebook, X, Threads, TikTok, LinkedIn, and YouTube.