Amicus Therapeutics Launches Pompe Disease Therapy in United Kingdom

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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).

Amicus Therapeutics announced on Aug. 15, 2023 that the Medical and Healthcare Products Regulatory Agency (MHRA) of the United Kingdom has granted marketing authorizations for Pombiliti (cipaglucosidase alfa) + Opfolda (miglustat) for adults living with late-onset Pompe disease, according to the press release.

Pompe disease is described as an inherited lysosomal disorder caused by deficiency of the enzyme acid alpha-glucosidase (GAA). Further, reduced or absent levels of GAA lead to accumulation of glycogen in cells, which is assumed to lead to the clinical manifestations of Pompe disease. According to the release, late-onset Pompe disease can be severe and debilitating with progressive muscle weakness throughout the body that worsens over the time.

Pombiliti + Opfolda is a two-component therapy that consists of cipaglucosidase alfa, which is a bis-M6P-enriched rhGAA that facilitates high-affinity uptake through the M6P receptor while retaining capacity for processing into the most active form of the enzyme. Clinical studies demonstrated that Pombiliti + Opfolda was associated with improvements in both musculoskeletal and respiratory measures, according to the press release.


“The MHRA approvals for Pombiliti and Opfolda are a major step forward for adults in the UK living with late-onset Pompe who are seeking new treatments. We are grateful to the global Pompe community who have helped advance this therapy, especially the patients, families, and physicians who participated in our clinical studies,” said Bradley Campbell, president and chief executive officer of Amicus Therapeutics, in a press release. “The speed in which NICE recommended reimbursement of Pombiliti and Opfolda is reflective of the UK’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.”

The decision was based off clinical data from the Phase III study, PROPEL, which is known as the only trial in LOPD to analyze both ERT-naïve and ERT-experienced participants in a controlled setting.

“From the positive uptake of the Early Access to Medicines Scheme, we have already seen the impact that this treatment is having for patients,” said Professor Mark Roberts, consultant neurologist at the Greater Manchester Neurosciences Unit at Salford Royal NHS Foundation Trust, in a press release. “Having widespread access to this treatment is an exciting development for the Pompe community, giving HCPs and patients a new option that exhibits a novel mode of action.”

Additionally, Pombiliti + Opfolda has demonstrated fulfillment of the Great Britain orphan designation criteria and will be added to the Orphan Register held by the MHRA, according to the press release.

Source: Amicus Therapeutics