Amicus Gets FDA Approval for Rare Muscle Disorder Treatment

Amicus Therapeutics announced on Thursday that the FDA has approved its two-component therapy, Pombiliti + Opfolda 65-mg capsules, for the treatment of adults diagnosed with Pompe disease, a rare inherited lysosomal disorder.

Late-onset Pompe disease is rare and life-threatening, caused by a deficiency of the enzyme acid alpha-glucosidase (GAA). Glycogen then builds up in the lysosomes of muscle cells and muscle damage results. Disease severity ranges from skeletal muscle weakness to progressive respiratory effects such as trouble breathing.

Pombiliti, a recombinant human GAA enzyme (rhGAA) expressed with high levels of bis-M6P (Mannose 6-Phosphate), increases uptake into muscle cells. Pombiliti is then processed into its active form and breaks down glycogen. Paired with this, Opfolda is an enzyme stabilizer which ensures that enzymes in the blood are stable.

“Today’s FDA approval of Pombiliti (cipaglucosidase alfa) and Opfolda (miglustat) 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,” Executive Chairman John Crowley said in a statement.

The FDA approval was based on data from the Phase III PROPEL trial, with results showing improvements in patients completing a six-minute walk test compared to the standard form of treatment.

Prior to the FDA’s approval of Pombiliti + Opfolda, Amicus struggled to gain approval. The regulator pushed back the target action dates in May 2023 to allow for more time to review information submitted by the company. However, this also gave Amicus the opportunity to complete pre-license approval inspections required at the manufacturing site in China.

“This two-component therapy is an important new treatment for those adults living with late-onset Pompe disease and not improving on current therapies,” Tahseen Mozaffar, an investigator for the PROPEL study and director of the UC Irvine ALS and Neuromuscular Center, said in a statement.

The therapy will be launched immediately in the U.S. and is already approved for use in the European Union and United Kingdom for adults living with late-onset Pompe disease. The U.S. list price will be approximately $650,000 for patients weighing 70 kilograms, the company said on Thursday.