On Sept. 28, 2023, Amicus Therapeutics received approval from the U.S. Food and Drug Administration (FDA) for Pombiliti^™ (cipaglucosidase alfa-atga) and Opfolda^™ (miglustat) for the treatment of adults who have late-onset Pompe disease (LOPD), who weigh at least 40kg (88 pounds) and who have not adequately responded to their current enzyme replacement therapy (ERT). Pombiliti is administered as a 20mg/kg intravenous (IV) infusion over four hours every other week. Opfolda oral capsules are taken one hour before each Pombiliti infusion with an unsweetened beverage. Other beverages or food should not be consumed two hours before or two hours after taking Opfolda. The recommended every-other-week dose for Opfolda is 260mg for patients weighing at least 50kg (110 pounds) or 195mg for patients weighing at least 40kg but less than 50kg. Amicus launched Pombiliti and Opfolda upon approval through a small network of specialty pharmacies. Pricing information has not yet been announced. Prescribing information for Pombiliti can be found here and Opfolda here.

At a Glance

• Brand (Generic) Name: Pombiliti (cipaglucosidase alfa-atga) and Opfolda (miglustat)
• Manufacturers: Amicus Therapeutics
• Date Approved: Sept. 28, 2023
• Indication: for the treatment of adult patients who have late-onset Pompe disease, who weigh at least 40kg, and who are not improving on their current ERT
• Dosage Forms Available: Pombiliti: single-dose vials of 105mg as lyophilized powder for reconstitution; Opfolda: 65mg capsules
• Launch Date: Upon approval
• Estimated Annual Cost: Pricing information is not yet available.
• Pompe disease is a genetic lysosomal disorder caused by the deficiency of the acid alpha-glucosidase (GAA) enzyme. It affects approximately 3,500 patients in the U.S.
• GAA is an enzyme that converts glycogen into usable forms. In patients who have Pompe disease, glycogen accumulates in their muscles, including the heart.
• It has two main forms – the more severe infantile-onset (IOPD), which typically emerges in the first few months of life; and LOPD, which may not be diagnosed for years. 
• LOPD is more slowly progressing than IOPD and it primarily affects skeletal muscles and muscles that control breathing. If untreated, patients progressively lose the ability to walk and breathe.
• Pombiliti works by replacing the GAA enzyme, thereby helping to break down glycogen, while Opfolda works by helping to stabilize the GAA enzyme in the blood.
• A Phase III study did not achieve its primary endpoint of improved six-minute walk distance (6MWD) in patients who switched from Sanofi’s ERT Lumizyme^® (alglucosidase alfa) or in patients who were ERT-naïve. However, forced vital capacity (FVC), a measure of lung function and a secondary endpoint, declined less in Pombiliti/Opfolda-treated patients in the overall population and in those who switched from Lumizyme. FVC did not decline less in ERT-naïve patients treated with Pombiliti/Opfolda.
• In addition to Lumizyme, and now Pombiliti, Sanofi’s Nexviazyme^® (avalglucosidase alfa-ngpt) is another ERT available to treat patients with LOPD.