Amicus Therapeutics announced that the Medicines and Healthcare products Regulatory Agency (MHRA) of the United Kingdom (U.K.) has granted marketing authorizations for Pombiliti® (cipaglucosidase alfa) + Opfolda® (miglustat) for adults living with late-onset Pompe disease (acid a-glucosidase [GAA] deficiency). The indication for Pombiliti is a long-term enzyme replacement therapy (ERT) used in combination with miglustat for adults with late-onset Pompe disease (LOPD). The indication for Opfolda 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 (NICE) issued final guidance recommending reimbursement of Pombiliti + Opfolda for use within the National Health Service (NHS) 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 (GB) approval, Pombiliti + Opfolda was granted an Innovation Passport under the Innovative Licensing and Access Pathway (ILAP), a Priority Innovative Medicines designation, as well as a positive scientific opinion under the Early Access to Medicines Scheme (EAMS).

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. Late-onset Pompe disease (LOPD) is a rare, debilitating, and life-threatening lysosomal disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA). Reduced levels of GAA lead to the accumulation of the substrate glycogen in the lysosomes of muscles and other tissues.

Disease severity ranges on a spectrum, but predominant manifestations are skeletal muscle weakness and progressive respiratory involvement. The MHRA and NICE decisions were based on clinical data from the Phase 3 pivotal study (PROPEL), the only trial in LOPD to study both ERT-naïve and ERT-experienced participants in a controlled setting. Pombiliti + Opfolda has demonstrated fulfilment of the Great Britain orphan designation criteria and will be added to the Orphan Register held by the MHRA.

Both will benefit from 10 years of market exclusivity in respect of similar medicinal products in the approved orphan indication. 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.