BioMarin: five-year PROPEL extension data for POMBILITI + OPFOLDA in late-onset Pompe disease

On 2 October 2026, BioMarin Pharmaceutical announced late-breaking five-year results from the PROPEL open-label extension of POMBILITI® (cipaglucosidase alfa-atga) + OPFOLDA® (miglustat) in adults with late-onset Pompe disease (LOPD), presented at the 31st World Muscle Society congress in Hiroshima.

What the extension showed

The analysis included 82 people who received the combination continuously from the PROPEL baseline to year five (enzyme-replacement-therapy–experienced cohort mean prior ERT 7.6 years at baseline; n=62 ERT-experienced, n=20 ERT-naïve followed toward year 4.5). Mean change in % predicted six-minute walk distance was +0.7% (SD 7.76) in the ERT-experienced arm to year 5 and +10.5% (SD 11.44) in the ERT-naïve arm to year 4.5; mean change in % predicted forced vital capacity was −2.8% and −4.4%, respectively. BioMarin’s R&D chief Greg Friberg called sustaining motor function and limiting pulmonary decline over up to five years in a progressive disease “clinically meaningful.”

Safety and limitations

No new safety signals were identified; 51.2% (n=42) had treatment-related adverse events, mostly manageable; five discontinued for safety, including two serious treatment-related events (chills/hypoxia; anaphylactoid reaction). The U.S. label carries boxed warnings on hypersensitivity/anaphylaxis, infusion reactions and cardiorespiratory risk, and the combination is contraindicated in pregnancy. This is a company-presented open-label extension after a completed phase 3 trial — not a new randomised comparison — and is not personal medical advice.