BioMarin Reports Five-Year Data for Pompe Disease Therapy

San Rafael, California, U.S., October 2, 2026

Five-Year Data Show Durable Motor Function

The long-term analysis demonstrated durable motor function outcomes and relative stabilization of pulmonary function among patients treated with POMBILITI plus OPFOLDA. In the enzyme replacement therapy (ERT)-experienced group, 62 participants were followed through year five, while 20 ERT-naïve participants were evaluated through approximately four and a half years. The mean change from baseline in percent-predicted six-minute walk distance (6MWD) was 0.7% in the ERT-experienced group at year five and 10.5% in the ERT-naïve group through year 4.5. Changes in percent-predicted forced vital capacity (FVC) were -2.8% and -4.4%, respectively. These measurements are important in LOPD because progressive muscle weakness can affect both mobility and respiratory function. The company reported that no new safety signals were identified during the long-term follow-up. Treatment-related adverse events occurred in 51.2% of participants, with most described as manageable. Five participants discontinued treatment because of safety-related reasons, including two discontinuations associated with serious treatment-related adverse events. The findings add to the longer-term safety and efficacy evidence being generated for the therapy as BioMarin continues evaluating outcomes in people with LOPD.

POMBILITI and OPFOLDA Address Rare Genetic Disease

Late-onset Pompe disease is an inherited lysosomal disorder caused by deficiency of the enzyme acid alpha-glucosidase (GAA). Reduced GAA activity results in glycogen accumulation in cells and can lead to progressive muscle weakness, including impairment of skeletal and respiratory muscles. POMBILITI and OPFOLDA are designed to work together as a two-component treatment. POMBILITI is a bis-M6P-enriched recombinant human GAA enzyme replacement therapy, while OPFOLDA is an oral enzyme stabilizer intended to reduce the loss of enzyme activity in the bloodstream. In the United States, the combination is indicated for adults with LOPD weighing at least 40 kilograms who are not improving on their current ERT. BioMarin also presented additional clinical data at the World Muscle Society Congress for nivudirsen (BMN 351), an investigational antisense oligonucleotide being evaluated in boys aged 4 to 10 with Duchenne muscular dystrophy (DMD) who have genetic changes amenable to exon 51 skipping. Phase 1/2 findings from the ongoing 351-201 study showed that nivudirsen was generally well tolerated and produced positive findings across several measures, including expression of near full-length dystrophin. Additional presentations examined pharmacokinetic, pharmacodynamic and biomarker measures, as well as muscle composition and muscle injury biomarkers.

Long-Term Evidence Strengthens Rare Disease Research

The latest findings represent an important addition to the growing body of long-term clinical evidence for Pompe disease treatment. Sustaining motor function and limiting pulmonary decline are clinically relevant goals in a progressive neuromuscular disease, and the five-year PROPEL extension results provide additional information on treatment outcomes over an extended period. BioMarin’s continued presentation of data from POMBILITI plus OPFOLDA and its broader neuromuscular pipeline also highlights the company’s focus on developing therapies for genetically defined rare diseases.

Source: BioMarin press release