PHARMExcel joined the WORLD Symposium, San Diego 3-7 February and witnessed the tremendous passion and determination of the stakeholders who are pushing boundaries to bring treatment options to patients and their families living with a rare disease.
We heard from key players in the field, including Amicus Therapeutics, Sanofi, Chiesi Global Rare Diseases, Takeda and Orchard Therapeutics – U.S. Here’s a closer look at five of the most promising developments they unveiled:
Amicus showcased long-term data on AT-GAA, their investigational two-part therapy for Pompe disease, showing ongoing improvements in motor and respiratory functions over a 3 yr period. They also presented findings on migalastat, an oral precision medicine for Fabry disease, highlighting its efficacy in stabilising renal function and reducing cardiac mass in patients over 5 years.
Sanofi covered its focus on lysosomal storage diseases with presentations on novel therapeutic approaches. One study introduced a next-generation enzyme replacement therapy (ERT) for Gaucher disease type 1, which showed enhanced tissue penetration and substrate reduction in preclinical models. Another presentation highlighted the potential of a gene therapy candidate for mucopolysaccharidosis type I (MPS I), showing promising early-phase clinical trial results with sustained enzyme activity and reduced glycosaminoglycan levels.
Chiesi presented multiple studies focusing on Fabry. One key presentation looked at the impact of pharmacological chaperones on enhancing the stability and activity of mutant α-galactosidase A enzymes, offering potential for improved patient outcomes. Another study examined the role of substrate reduction therapy in combination with ERT, demonstrating enhanced effects in reducing globotriaosylceramide accumulation in cellular models. These findings hope to inform more personalised and effective treatment strategies for Fabry disease patients.
#LysosomalStorageDiseases (LSD)
The company shared new data on its pipeline of ERTs and other innovative approaches aimed at addressing some of the most challenging LSDs, including Gaucher disease, Fabry disease, and Hunter Syndrome (Mucopolysaccharidosis type II).
One of the most encouraging updates from Takeda was the presentation of long-term data supporting the efficacy of its ERT for Gaucher disease, showing sustained improvements in clinical outcomes for patients.
The company received the 2025 New Treatment Award for their therapy, Lenmeldy, for recognition of significant advancements in treatments for lysosomal storage diseases – congratulations!
PHARMExcel is thrilled to be working alongside these trailblazing companies and can’t wait to see these therapies make a real difference for patients.
If you would like to learn how PHARMExcel could accelerate the set up and progression of your clinical trials please contact us today.
