Amicus Therapeutics is set to present extensive clinical research findings across its rare disease portfolio at the 21st Annual WORLDSymposium™ 2025, with multiple presentations focusing on both Fabry disease and Pompe disease treatment advances.
Fabry Disease Research Highlights
The company's Fabry disease program features five significant presentations, including crucial data from the FollowME Fabry Pathfinders registry. Dr. Ulla Feldt-Rasmussen from Copenhagen University Hospital will present patient-reported outcomes from patients treated with migalastat over a median of four years, offering valuable insights into long-term treatment effectiveness.
A notable presentation by Dr. Robert J. Hopkin from Cincinnati Children's Hospital Medical Center will address the quality of life in adolescents treated with migalastat, drawing data from the ASPIRE study and its open-label extension. This research provides important information about treatment outcomes in younger patients.
The ongoing RENEW study, presented by Jennifer Hiros from Amicus Therapeutics, investigates migalastat's safety and pharmacokinetics in Fabry disease patients with severe renal impairment or those on dialysis, addressing a critical need in this patient population.
Pompe Disease Advances
The Pompe disease research program features eleven presentations, demonstrating the company's substantial commitment to advancing treatment options for this rare genetic disorder. Key highlights include:
Dr. Benedikt Schoser from Ludwig-Maximilians-University will present data on clinically important improvements in 6-minute walk distance and forced vital capacity in adults with late-onset Pompe disease who switched to cipaglucosidase alfa plus miglustat from alglucosidase alfa.
Real-world evidence from Sweden, presented by Sofia Nordin, will provide insights into disease burden and treatment patterns, while Dr. Barry J. Byrne from the University of Florida will share findings on non-ambulatory patients switching to the new combination therapy.
Clinical Implementation and Patient Perspectives
The presentations include important patient-centered research, with Jamie Gault from Amicus presenting structured exit interviews from clinical studies, offering valuable patient perspectives on study participation. This patient-focused approach aligns with the company's commitment to understanding the real-world impact of their treatments.
Dr. Patrick Deegan from Cambridge University Hospitals NHS Foundation Trust will present findings on establishing comprehensive monitoring guidelines for adults with late-onset Pompe disease in the UK, contributing to standardized care protocols.
Innovative Research Approaches
The symposium will also feature cutting-edge research, including non-invasive magnetic resonance imaging for monitoring glycogen accumulation in Pompe disease, presented by Nirbhay Yadav from the Kennedy Krieger Institute. Additionally, Slawomir Wantuch from UCL Great Ormond Street Institute of Child Health will present findings on hematopoietic stem cell gene therapy for Pompe disease, highlighting potential future treatment directions.
All presentations are scheduled for February 4-6, 2025, providing healthcare professionals and researchers with comprehensive updates on the latest advances in treating these rare genetic disorders.
