RARE Daily

European Commission Approves Amicus’ Pombiliti in Patients with Late-Onset Pompe Disease

March 27, 2023

Rare Daily Staff

The European Commission has granted approval for Amicus Therapeutics’ Pombiliti, a long-term enzyme replacement therapy used in combination with miglustat for adults with late-onset Pompe disease.

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 fatal infantile form with significant impacts 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, including progressive muscle weakness throughout the body, particularly the skeletal muscles and muscles controlling breathing, that worsens over time.

“Late-onset Pompe disease is a rare, neuromuscular disorder that can have devastating consequences for patients and their families. The European Commission approval for Pombiliti is another major step towards bringing this much needed, new treatment for all adults living in the EU with late-onset Pompe disease,” said John Crowley, executive chairman of Amicus.

The EC based its approval on clinical data from the phase 3 PROPEL pivotal study, the only randomized, controlled trial in LOPD to include patients in the high unmet need ERT-experienced population, in addition to ERT-naïve patients. The EC approval of Pombiliti follows the positive opinion previously granted by the Committee for Medicinal Products for Human Use (CHMP).

AT-GAA is an investigational two-component therapy that consists of Pombiliti (cipaglucosidase alfa), a bis-M6P-enriched rhGAA which 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 minimize loss of enzyme activity in the blood. In clinical studies, AT-GAA was associated with demonstrated improvements in both musculoskeletal and respiratory measures.

The company has submitted the previously requested analytical testing for miglustat, the enzyme stabilizer component of AT-GAA. The Committee for Medicinal Products for Human Use (CHMP) opinion for miglustat is expected in the second quarter of 2023.

“We are extremely pleased with the EC approval of Pombiliti, an innovative enzyme replacement therapy that is intended for use in combination with the oral enzyme stabilizer miglustat. Given the strength of the label and our launch readiness, we believe there is significant commercial opportunity, and that AT-GAA has the potential to become the next standard of care in Pompe disease by redefining the therapeutic expectations of people living with Pompe disease and of their caregivers,” said Bradley Campbell, president and CEO of Amicus.

Photo: Bradley Campbell, president and CEO of Amicus

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