Lysosomal and Rare Disorders Research and Treatment Center

Recent papers from Lysosomal and Rare Disorders Research and Treatment Center

1. NGAL as a Biomarker of Tubular Injury and Glomerular Dysfunction in Fabry NephropathyCells · 2026
2. 2025 Consensus Clinical Management Guidelines for Niemann‐Pick Disease Type CJournal of Inherited Metabolic Disease · 2026
3. Improvement of Bone Mineral Density in Patients with Type 1 Gaucher Disease Treated with Velaglucerase Alfa: Results from Clinical StudiesJournal of Clinical Medicine · 2026
4. Long-term efficacy and safety of pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease: results from up to 5 years of the BRIGHT F51 phase III, open-label extension studyOrphanet Journal of Rare Diseases · 2026
5. Maternal and Fetal Outcomes in Imiglucerase‐Treated Patients With Gaucher Disease: Real‐World Evidence From the International Collaborative Gaucher Group ( ICGG ) Gaucher Registry Pregnancy Sub‐RegistryJournal of Inherited Metabolic Disease · 2026
6. Safety of home administration of cipaglucosidase alfa plus miglustat in late-onset Pompe disease: results from multiple clinical trialsTherapeutic Advances in Rare Disease · 2026
7. Lucerastat, an oral therapy for Fabry disease: results from a pivotal randomized phase 3 study and its open-label extensionNature Communications · 2026
8. Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trialJournal of Neurology · 2025
9. Age-related inflammatory biomarkers in early-onset osteoporosis in females with Gaucher diseaseFrontiers in Endocrinology · 2025
10. The clinical utility of neurofilament light chain for early detection and prediction of disease burden and severity in neuronopathic Gaucher diseaseMolecular Genetics and Metabolism · 2025
11. 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
12. Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome SurveysOrphanet Journal of Rare Diseases · 2025
13. Sex Differences in Circulating Inflammatory, Immune, and Tissue Growth Markers Associated with Fabry Disease-Related CardiomyopathyCells · 2025
14. Mapping healthcare services and practice variations in spinal care across countries: The Spine Atlas InitiativeBrain and Spine · 2025
15. The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)Orphanet Journal of Rare Diseases · 2024
16. A phase III, open‐label clinical trial evaluating pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease previously treated with other enzyme replacement therapiesJournal of Inherited Metabolic Disease · 2024
17. GBA1-Associated Parkinson’s Disease Is a Distinct EntityInternational Journal of Molecular Sciences · 2024
18. Twelve Years of the Gaucher Outcomes Survey (GOS): Insights, Achievements, and Lessons Learned from a Global Patient RegistryJournal of Clinical Medicine · 2024
19. Neuronopathic Gaucher disease: Rare in the West, common in the EastJournal of Inherited Metabolic Disease · 2024
20. The Expression and Secretion Profile of TRAP5 Isoforms in Gaucher DiseaseCells · 2024