Catching the Clues, Changing the Course of Lysosomal Storage Disorders Professor Yoshikatsu Eto, Dr. Nicole Muschol, Professor Patrício Aguiar, Dr. Robert Hopkin

Catching the Clues, Changing the Course of Lysosomal Storage Disorders Professor Yoshikatsu Eto, Dr. Nicole Muschol, Professor Patrício Aguiar, Dr. Robert Hopkin This interactive symposium explores the patient journey across the lysosomal storage disorder (LSD) continuum, focusing on persistent gaps in recognition, diagnosis, timely treatment initiation, and long-term care. Through case-based discussions of Fabry disease and alpha-mannosidosis, we will examine both shared and disease-specific challenges from early clinical suspicion through ongoing management. While Fabry disease has benefited from greater awareness, standardized monitoring practices, and multiple therapeutic options, important challenges remain including monitoring for anti-drug antibodies, managing infusion-related effects, symptom breakthrough between infusions, and defining criteria for treatment switching. In contrast, alpha-mannosidosis remains under-recognized and frequently misdiagnosed, often delaying critical early intervention, particularly in pediatric patients. By the end of this symposium, participants will gain practical, case-based insights to improve early recognition, address disease-specific challenges in Fabry disease and alpha-mannosidosis, and optimize monitoring, treatment initiation, and long-term management across the LSD continuum. https://checkrare.com/catching-the-clues-changing-the-course-of-lysosomal-storage-disorders/