FDA approves oral therapy for late-onset Pompe disease

The FDA has approved a two-part combination therapy in 65 mg capsules to treat adults with late-onset Pompe disease who weigh at least 40 kg and are not improving on their current enzyme replacement regimen.

According to a release from Amicus Therapeutics, Pombiliti + Opfolda is a joining of recombinant human alpha-glucosidade enzyme (rhGAA) naturally expressed with high levels of bis-M6P (Mannose 6-Phosphate), designed for increased uptake into muscle cells. Once in the cell, Pombiliti is processed into its most active and mature form to break down glycogen. Opfolda is a stabilizer designed to anchor the enzyme in the blood, the company said.

In late-onset Pompe disease, reduced levels of GAA lead to the accumulation of the substrate glycogen in the lysosomes of muscle cells, which causes muscle damage. Disease symptoms include skeletal muscle weakness and progressive respiratory involvement.

The FDA’s approval was based on clinical data observed from the phase 3 PROPEL study, the only trial in late-onset Pompe to examine patients’ experience with enzyme replacement in a controlled setting.

“This approval embodies our Amicus spirit, passion, and resilience and is a very meaningful step for the Pompe community,” John F. Crowley, executive chairman of Amicus, said in the release. “I am just so immensely proud of our team, and so very grateful to everyone who has worked to bring this medicine to this approval.”

Amicus Therapeutics further stated it plans to launch Pombiliti + Opfolda immediately in the United States. The FDA had previously granted breakthrough therapy designation for the novel treatment, which was also approved for the treatment of adults with late-onset Pompe in the European Union and United Kingdom.