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Orsini Specialty Pharmacy Partners with Amicus Therapeutics to Dispense New Therapy for the Treatment of Late-Onset Pompe Disease

Orsini Specialty Pharmacy has been selected by Amicus Therapeutics to dispense Pombiliti™ (cipaglucosidase alfa-atga) and Opfolda™ (miglustat), a two-component treatment approved for certain patients with late-onset Pompe disease. POMBILITI is a hydrolytic lysosomal glycogen-specific enzyme indicated, in combination with OPFOLDA, an enzyme stabilizer, for the treatment of adult patients with late-onset Pompe disease (lysosomal acid alpha-glucosidase [GAA] deficiency) weighing ≥40 kg and who are not improving on their current enzyme replacement therapy (ERT). Please see full Prescribing Information, including BOXED WARNING, for POMBILITI and full Prescribing Information for OPFOLDA, also available at

Pompe disease is an inherited lysosomal disorder caused by a deficiency of the enzyme acid alpha-glucosidase. Reduced or absent levels of GAA levels lead to the accumulation of glycogen in cells, which is believed to result in the clinical manifestations of Pompe disease. The disease can be debilitating and is characterized by severe muscle weakness that worsens over time. Pompe disease ranges from a rapidly fatal infantile form with significant impacts on heart function to a more slowly progressive, late-onset form primarily affecting skeletal muscle. It is estimated that Pompe disease affects approximately 5,000 to 10,000 people worldwide.

“For nearly a decade, Orsini has proudly served the Pompe disease community. We are pleased to partner with Amicus to bring Pombiliti and Opfolda to patients suffering from this devastating disease. Together, we aim to make a positive impact on the lives of those affected,” said Brandon Tom, Orsini’s President, and Chief Executive Officer. 

About Orsini Specialty Pharmacy
Providing patients with comprehensive and compassionate care since 1987Orsini Specialty Pharmacy is a leader in rare diseases and gene therapies. Orsini partners with biopharma innovators, healthcare providers, and payors to support patients and their families in accessing revolutionary treatments for rare diseases.​ Through integrated pharmacy distribution, patient services, clinical management, and convenient home infusion services, Orsini delivers customized solutions that simplify how patients connect to advanced therapies. Orsini’s high-touch care model centers on experienced and trained therapy care teams that provide personalized patient care to ensure that No Patient is Left Behind™.

Orsini Specialty Pharmacy holds accreditations with the Accreditation Commission for Health Care (ACHC), The Joint Commission, URAC, and NABP. Orsini has earned URAC’s Rare Disease Pharmacy Center of Excellence Designation and ACHC’s Distinction in Rare Diseases and Orphan Drugs. For more information, contact Orsini at 847-734-7373 ext. 505, email us at, or visit

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