Orsini Specialty Pharmacy has been chosen by Amicus Therapeutics as the provider for Pombiliti™ (cipaglucosidase alfa-atga) and Opfolda™ (miglustat), a combination treatment approved for specific patients with late-onset Pompe disease. Pombiliti is a hydrolytic lysosomal glycogen-specific enzyme, indicated, when used alongside Opfolda, an enzyme stabilizer, for the treatment of adult patients with late-onset Pompe disease (lysosomal acid alpha-glucosidase [GAA] deficiency) who weigh ≥40 kg and are not experiencing improvement with their current enzyme replacement therapy (ERT). Full Prescribing Information, including a BOXED WARNING, for Pombiliti, and full Prescribing Information for Opfolda, can be found at amicusrx.com.

Pompe disease is a hereditary lysosomal disorder resulting from a deficiency of the enzyme acid alpha-glucosidase. Insufficient or absent levels of GAA lead to glycogen accumulation in cells, believed to be the cause of Pompe disease's clinical manifestations. The disease can be debilitating and is characterized by severe muscle weakness that worsens over time. Pompe disease presents in various forms, from a rapidly fatal infantile version with significant impacts on heart function to a more slowly progressive late-onset form primarily affecting skeletal muscles. It is estimated that Pompe disease affects around 5,000 to 10,000 individuals worldwide.

Brandon Tom, President and CEO of Orsini, expressed the pharmacy's pride in serving the Pompe disease community for nearly a decade. The partnership with Amicus aims to provide relief to individuals suffering from this devastating disease, improving their quality of life.