Amicus Data Shows Sustained Hope for Rare Disease Patients

PRINCETON, NJ – February 03, 2026 – Amicus Therapeutics today reinforced its commitment to the rare disease community by presenting a wealth of new, long-term data for its flagship therapies, Galafold® for Fabry disease and the two-component POMBILITI® + OPFOLDA® for late-onset Pompe disease. The presentations, a highlight of the 22nd Annual WORLDSymposium™, showcase years of sustained efficacy and safety, offering a message of enduring hope for patients managing these chronic, progressive conditions.

The extensive data sets, spanning from large-scale real-world registries to multi-year clinical trial extensions, underscore the durability of these treatments. This is a critical factor for diseases where lifelong management is the reality.

“Amicus continues to advance the science and understanding of both Fabry and Pompe diseases, and we are proud to showcase new data for our medicines at this year’s WORLDSymposium,” said Jeff Castelli, PhD, Chief Development Officer at Amicus Therapeutics. “These new data add to the growing body of evidence supporting the important role of Galafold and Pombiliti + Opfolda.”

The Enduring Case for Galafold in Fabry Disease

For patients with Fabry disease, a rare genetic disorder causing the buildup of a fatty substance in cells that damages the heart, kidneys, and nervous system, the new data provides compelling real-world evidence. A key oral presentation detailed a head-to-head comparison of Galafold (migalastat), an oral medication, against the traditional standard of care, intravenous enzyme replacement therapy (ERT).

Drawing from the global followME Pathfinders registry, the analysis by Dr. Peter Nordbeck of the University of Wuerzburg examined outcomes in treatment-naïve patients. This type of real-world evidence is invaluable for clinicians and patients weighing treatment options. While ERT involves regular, time-consuming infusions, Galafold is a daily oral capsule. The convenience is a clear advantage, but demonstrating comparable or superior long-term effectiveness on critical organ function is paramount. Previous studies have hinted at Galafold's potential to improve heart and kidney metrics, and this new analysis adds significant weight to that argument.

Further bolstering the evidence for Galafold, Amicus presented multiple posters, including five-year data from the same registry focusing specifically on cardiac and renal effectiveness. For a disease defined by its relentless damage to these organs, proving a therapy can protect them over the long haul is a monumental achievement. Additional data explored adjusted dosing for patients with severe kidney impairment—a challenging population to treat—and long-term safety results from post-marketing surveillance in Korea, illustrating the therapy's consistent performance across diverse patient groups and geographies.

Years of Durability for Pompe Disease Patients

Equally significant were the findings for POMBILITI® (cipaglucosidase alfa-atga) combined with OPFOLDA® (miglustat), a therapy for late-onset Pompe disease. This condition is a progressive neuromuscular disorder caused by a deficiency of the GAA enzyme, leading to debilitating muscle weakness and respiratory failure.

The therapy is a two-component system: cipaglucosidase alfa is a next-generation ERT designed for enhanced uptake by muscle cells, while the oral drug miglustat acts as an enzyme stabilizer, preventing the therapy from breaking down in the bloodstream before it can do its job.

At the symposium, Dr. Tahseen Mozaffar of the University of California, Irvine, presented 208-week (four-year) outcomes from the pivotal PROPEL study. The data showed that patients experienced sustained improvements in muscle function and key disease biomarkers. Companion posters detailed similar long-term benefits in pulmonary function, a critical measure given that respiratory failure is a leading cause of mortality in Pompe disease.

Even more impressive was the 90-month (7.5-year) data presented from the earlier ATB200-02 Phase I/II study. These results, spanning muscle function, biomarkers, and patient-reported outcomes, provide powerful evidence of the therapy's remarkable durability. For patients facing a lifetime of decline, data demonstrating nearly a decade of sustained benefit can be transformative, suggesting the potential to not just slow the disease but to maintain a higher quality of life for years.

Fortifying a Position in a Competitive Market

The presentation of this robust, long-term evidence is a calculated strategic move by Amicus. The markets for both Fabry and Pompe disease treatments are highly competitive, populated by established players with deep pockets.

In the Fabry space, Galafold competes with intravenous ERTs like Sanofi's Fabrazyme. While Galafold is only suitable for the 35-50% of patients with specific 'amenable' genetic mutations, its oral delivery and growing body of evidence on protecting heart and kidney function make it a formidable competitor. The new real-world data directly comparing it to ERT is designed to strengthen its position as a first-line option for eligible patients.

For Pompe disease, POMBILITI + OPFOLDA is approved in the U.S. for patients who are not improving on their current ERT. It competes with Sanofi's well-established therapies, Lumizyme and the newer Nexviazyme. The long-term data presented at WORLDSymposium is crucial for convincing physicians and patients to make the switch. It demonstrates that the benefits are not fleeting but are sustained over many years, a key consideration when changing a lifelong therapy regimen.

A Strategic Asset in a New Era

The timing of these data presentations is particularly noteworthy. In December 2025, it was announced that BioMarin Pharmaceutical would acquire Amicus Therapeutics in a landmark $4.8 billion all-cash deal. While Amicus is presenting this research, the ultimate beneficiary of its success will be the newly combined entity.

This trove of long-term data effectively serves as a powerful validation of the assets BioMarin is acquiring. The robust, multi-year evidence for both Galafold and POMBILITI + OPFOLDA significantly de-risks the acquisition and solidifies the long-term commercial value of the portfolio. For BioMarin, which aims to expand its dominance in the rare disease sector, this data confirms that it has purchased not just promising therapies, but proven, durable treatments with a clear path to continued market penetration and revenue growth.

Therefore, the presentations at WORLDSymposium are more than just a scientific update; they represent a key strategic asset that strengthens the foundation of a new rare disease powerhouse, ensuring that the innovation Amicus pioneered will have a lasting impact on patients for many years to come.