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BioMarin reports durable five-year outcomes with Pombiliti/Opfolda in late-onset Pompe disease

Edited by Robert McTiernan··1 min read
BioMarin reports durable five-year outcomes with Pombiliti/Opfolda in late-onset Pompe disease

BioMarin Pharmaceutical (Nasdaq: BMRN) reported long-term efficacy and safety data from the PROPEL open-label extension study of cipaglucosidase alfa (Pombiliti) plus miglustat (Opfolda) in late-onset Pompe disease (LOPD) at the 31st Annual Congress of the World Muscle Society.

BioMarin acquired the regimen through its USD 4.8 billion acquisition of Amicus Therapeutics, completed in April 2026.

The analysis included 82 participants who received Pombiliti plus Opfolda continuously from the Phase III PROPEL baseline, including 62 who had previously received enzyme replacement therapy (ERT) and 20 who were ERT-naïve.

Among ERT-experienced participants, mean change from baseline in percent-predicted six-minute walk distance was +0.7% at year five, while percent-predicted forced vital capacity declined by 2.8%. The cohort had received ERT for a mean of 7.6 years before entering PROPEL.

Among ERT-naïve participants, mean percent-predicted six-minute walk distance increased by 10.5% at year 4.5, while percent-predicted forced vital capacity declined by 4.4%.

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BioMarin said no new safety signals emerged during long-term follow-up. Treatment-related adverse events were reported in 51.2% of participants, and five discontinued treatment for safety reasons, including two patients with serious treatment-related adverse events.

Pombiliti provides recombinant acid alpha-glucosidase to reduce lysosomal glycogen accumulation and is administered with Opfolda, an oral enzyme stabilizer. The combination received US FDA approval in September 2023 for adults with LOPD weighing at least 40 kg who are not improving on their current ERT and is also authorized in the EU.

The PROPEL open-label extension is evaluating long-term changes in motor function, pulmonary function, biomarkers, patient-reported outcomes, and safety.

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