RARE Daily

Amicus Therapeutics’ New Pompe Disease Therapy Approved in the United Kingdom

August 15, 2023

Rare Daily Staff

The Medicines and Healthcare products Regulatory Agency of the United Kingdom has granted marketing authorizations for Amicus Therapeutics’ Pombiliti + Opfolda for adults living with late-onset Pompe disease.

The indication for Pombiliti is a long-term enzyme replacement therapy used in combination with miglustat for adults with late-onset Pompe disease (LOPD). The indication for Opfolda (miglustat) is an enzyme stabilizer of cipaglucosidase alfa long-term enzyme replacement therapy for adults with LOPD.

In addition, the National Institute for Health and Care Excellence issued final guidance recommending reimbursement of Pombiliti + Opfolda for use within the National Health Service in England and Wales. As stated in the guidance, NICE concluded that the cost-effectiveness estimates for Pombiliti + Opfolda showed a positive net health benefit and recommended Pombiliti + Opfolda for adults with LOPD as first line and later lines of therapy.

Prior to Great Britain approval, Pombiliti + Opfolda was granted an Innovation Passport under the Innovative Licensing and Access Pathway, a Priority Innovative Medicines designation, as well as a positive scientific opinion under the Early Access to Medicines Scheme. This accelerated the time to market and enabled healthcare professionals to prescribe the treatment prior to marketing authorization based on clinical factors for patients with a clear unmet need.

“The speed in which NICE recommended reimbursement of Pombiliti and Opfolda is reflective of the U.K.’s Innovative Licensing and Access Pathway, the data behind Pombiliti and Opfolda, the strong collaboration with the reimbursement authorities, and the Amicus commitment to bring this therapy to those living with Pompe disease as quickly as possible,” said Bradley Campbell, president and CEO of Amicus. “We are working as quickly as possible to make Pombiliti and Opfolda commercially available.”

Pompe disease is an inherited lysosomal disorder caused by deficiency of the enzyme acid alpha-glucosidase (GAA). Reduced or absent levels of GAA lead to accumulation of glycogen in cells, which is believed to result in the clinical manifestations of Pompe disease. Pompe disease ranges from a rapidly deteriorating infantile form with significant impact to heart function, to a more slowly progressive, late-onset form primarily affecting skeletal muscle and progressive respiratory involvement. Late-onset Pompe disease can be severe and debilitating with progressive muscle weakness throughout the body that worsens over time, particularly skeletal muscles and muscles controlling breathing.

Pombiliti + Opfolda, is a two-component therapy that consists of cipaglucosidase alfa, a bis-M6P-enriched rhGAA that facilitates high-affinity uptake through the M6P receptor while retaining its capacity for processing into the most active form of the enzyme, and the oral enzyme stabilizer, miglustat, that’s designed to reduce loss of enzyme activity in the blood. In clinical studies, Pombiliti + Opfolda was associated with demonstrated improvements in both musculoskeletal and respiratory measures.

The MHRA and NICE decisions were based on clinical data from the phase 3 pivotal study, the only trial in LOPD to study both enzyme replacement therapy-naïve and enzyme replacement therapy -experienced participants in a controlled setting.

Photo: Bradley Campbell, president and CEO of Amicus

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