UK approval for Pompe Disease therapy

Amicus Therapeutics has received marketing authorisation from the Medicines and Healthcare products Regulatory Agency (MHRA) for Pombiliti^® (cipaglucosidase alfa) + Opfolda^® (miglustat) for adults living with late-onset Pompe disease.

Pombiliti is a long-term enzyme replacement therapy (ERT) used in combination with miglustat (an enzyme stabiiser) for adults with the rare disease.

Pompe disease is an inherited lysosomal disorder caused by deficiency of the enzyme acid alpha-glucosidase (GAA). The disease affects about 1 in 40,000 people, according to the National Organization for Rare Disorders. 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.

The National Institute for Health and Care Excellence (NICE) has also issued guidance recommending reimbursement of Pombiliti + Opfolda for use within the National Health Service (NHS) in England and Wales.

Both the MHRA and NICE decisions were based on clinical data from the Phase III PROPEL study. This is the only trial in LOPD to study both ERT-naïve and ERT-experienced participants in a controlled setting. The EMA’s CHMP adopted a positive opinion for Pombiliti  for the treatment of Pompe disease in December 2022.

“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,” commented Bradley Campbell, President and Chief Executive Officer of Amicus Therapeutics.

“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,” he added.

Pombiliti + Opfolda have demonstrated orphan designation criteria and will be added to the Orphan Register held by the MHRA. Both will benefit from 10 years of market exclusivity.

Another company active in the Pompe disease market is Sanofi, which in May inked a worldwide licensing agreement with Maze Therapeutics for oral GYS1 inhibitor MZE001.