Amicus Therapeutics

Japan's Ministry of Health, Labour and Welfare has approved Pombiliti + Opfolda for treating adult patients with late-onset Pompe disease, expanding global access to this innovative therapy.

Amicus Therapeutics reported Q1 2025 total revenue of $125.2 million, representing 15% year-over-year growth at constant exchange rates, driven by strong patient demand for both Galafold and Pombiliti + Opfolda.

• European orphan drug approvals have grown significantly, with 192 approvals through 2022, yet approximately 95% of rare diseases still lack approved treatments, highlighting persistent market access challenges despite regulatory progress. • HTA outcomes for orphan drugs vary dramatically across European countries, with approval rates ranging from 98% in Germany to 67% in Scotland, creating inconsistent patient access and requiring tailored market entry strategies. • Real-world evidence (RWE) is emerging as a critical solution to bridge the evidence gap in orphan drug development, with pharmaceutical companies increasingly investing in RWE infrastructure to support regulatory approvals and strengthen value propositions.

The FDA has granted approval for Vyjuvek, making it the first-ever topical gene therapy authorized for treating dystrophic epidermolysis bullosa (DEB), a rare genetic condition causing severe skin fragility.

• Amicus Therapeutics will showcase 16 presentations at WORLDSymposium 2025, featuring comprehensive research on migalastat for Fabry disease and cipaglucosidase alfa plus miglustat for Pompe disease. • Key studies include long-term patient outcomes from the FollowME Fabry Pathfinders registry and real-world evidence of treatment effectiveness in both rare diseases. • Notable research highlights treatment satisfaction, quality of life improvements, and clinical outcomes in patients switching from existing therapies to Amicus' novel treatment approaches.

• The Pompe disease pipeline is robust, featuring over 20 drugs in development across 15+ companies, targeting novel treatment approaches. • GeneCradle Therapeutics' GC301, a gene therapy, is in Phase I/II trials, showing potential for enzyme replacement therapy discontinuation and motor ability improvement. • Maze Therapeutics' MZE001, an oral glycogen synthase inhibitor, is in Phase I, aiming to reduce glycogen buildup in Pompe disease patients. • Key players like Amicus Therapeutics and Spark Therapeutics are advancing therapies such as Cipaglucosidase alfa and SPK-3006 through clinical trials.

• Sangamo Therapeutics' shares surged after the FDA agreed to a regulatory pathway for accelerated approval of isaralgagene civaparvovec (ST-920) for Fabry disease. • The FDA will consider data from the Phase I/II STAAR trial, using the rate of decline in eGFR at 52 weeks as the primary basis for approval. • Sangamo plans to submit a BLA in the second half of 2025, three years ahead of previous estimates, potentially bringing the treatment to patients sooner. • Septerna, focusing on GPCR therapies, raised $288 million in an upsized IPO, highlighting renewed interest in biotech IPOs.

• Pompe disease, a rare genetic disorder, is seeing advancements with over 20 therapies in the pipeline. • Key players like Amicus Therapeutics and Spark Therapeutics are developing novel treatments, including gene therapies and enzyme replacements. • Clinical trials are underway, evaluating the safety and efficacy of drugs like Cipaglucosidase alfa and SPK-3006. • These emerging therapies target various mechanisms, such as alpha-glucosidase replacement and glycogen synthase kinase modulation.