BioMarin Presents Five-Year POMBILITI Study Data

BioMarin Pharmaceutical Inc. presented five-year follow-up data for its POMBILITI® (cipaglucosidase alfa-atga) in combination with OPFOLDA® (miglustat) therapy for late-onset Pompe disease (LOPD) at the 31st Annual Congress of the World Muscle Society (WMS) in Hiroshima, Japan.

The results from the PROPEL open-label extension (OLE) study demonstrated durable motor function outcomes and relative stabilization of pulmonary function over long-term follow-up. The analysis included data from 82 individuals who received continuous treatment for five years. The study included both enzyme replacement therapy (ERT)-experienced and ERT-naïve cohorts.

"These five-year results demonstrate that POMBILITI and OPFOLDA can provide durable, long-term benefits for people living with late-onset Pompe disease," said Greg Friberg, BioMarin's Executive Vice President and Chief Research & Development Officer. He emphasized that sustaining motor function and limiting pulmonary decline is clinically meaningful.

No new safety signals were identified. Approximately 51 percent of participants experienced treatment-related adverse events, most of which were manageable. Five individuals discontinued treatment due to safety concerns.

BioMarin also presented preliminary data for nivudirsen (BMN 351), an investigational treatment for boys with Duchenne muscular dystrophy.