Amicus Therapeutics (United States)

Recent papers from Amicus Therapeutics (United States)

1. Prevalence of migalastat-amenable variants in patients with Fabry disease from Brazil, Argentina, and Colombia: an observational studyFrontiers in Genetics · 2026
2. GAA engineered to improve cellular uptake enhances correction in a preclinical hematopoietic stem cell gene therapy model of Pompe diseaseMolecular Therapy Advances · 2026
3. The Synthetic Roleof PFAS in Drug Substance Manufacturing:An IQ Consortium Working Group Review on the Potential Impact of PFASRestrictions on Patient Access to MedicinesOrganic Process Research & Development · 2026
4. Treatment-related benefit and satisfaction in patients with Fabry disease in France: insight into patients’ expectations and preferences from the prospective, non-interventional SATIS-Fab studyOrphanet Journal of Rare Diseases · 2026
5. Longitudinal deep multi-omics profiling in a CLN3Δex7/8 minipig model identifies biomarker signatures of diseaseCommunications Medicine · 2026
6. Clinically important improvements in 6-minute walk distance and forced vital capacity in adults with late-onset Pompe disease switching from alglucosidase alfa to cipaglucosidase alfa plus miglustat in the PROPEL studyNeuromuscular Disorders · 2026
7. Miglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe diseaseTherapeutic Advances in Rare Disease · 2026
8. Comparing the efficacy of cipaglucosidase alfa plus miglustat with alglucosidase alfa for late-onset Pompe disease: an expanded network meta-analysis utilizing patient-level and aggregate dataJournal of Comparative Effectiveness Research · 2026
9. Mapping glycogen accumulation and treatment effect in Pompe disease with saturation transfer MRITranslational research · 2026
10. FollowME Fabry Pathfinders real-world registry in Spain and Portugal: cardiac and renal outcomes with migalastat in patients with Fabry diseaseEuropean Heart Journal · 2025
11. Safety of home administration of cipaglucosidase alfa plus miglustat in late-onset Pompe disease: results from multiple clinical trialsTherapeutic Advances in Rare Disease · 2026
12. Cipaglucosidase alfa plus miglustat in Pompe disease: two non-ambulatory patients switching from high‑dose, high-frequency alglucosidase alfaNeuromuscular Disorders · 2025
13. Long-term efficacy of migalastat in females with Fabry diseaseJournal of Medical Genetics · 2025
14. A multi-country time and motion study to describe the experience and burden associated with the treatment of Fabry disease with enzyme replacement therapy with agalsidase alfa and agalsidase betaOrphanet Journal of Rare Diseases · 2025
15. A composite measurement concept for monitoring cardiac function in Fabry diseaseOrphanet Journal of Rare Diseases · 2025
16. Switching Enzyme Replacement Therapy for Late‐Onset Pompe Disease From Alglucosidase Alfa to Cipaglucosidase Alfa Plus Miglustat: Post Hoc Effect Size Analysis of PROPELMuscle & Nerve · 2025
17. Safety and efficacy of migalastat in adolescent patients with Fabry disease: Results from ASPIRE, a phase 3b, open-label, single-arm, 12-month clinical trial, and its open-label extensionMolecular Genetics and Metabolism · 2025
18. Challenges in multinational rare disease clinical studies during COVID-19: regulatory assessment of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe diseaseJournal of Neurology · 2025
19. Pharmacokinetic evaluation of single-dose migalastat in non-Fabry disease subjects with ESRD receiving dialysis treatment, and use of modeling to select dose regimens in Fabry disease subjects with ESRD receiving dialysis treatmentPLoS ONE · 2024
20. Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe diseaseJournal of Patient-Reported Outcomes · 2024