Explore Research Poster Abstracts – Lysosomal Disease Summit

The 2025 Lysosomal Disease Summit brings together international researchers and clinicians to advance the understanding and treatment of lysosomal storage disorders. Below is the list of accepted poster presentations, highlighting new data, clinical experiences, and translational science across Fabry disease, Gaucher disease, MPS, Niemann-Pick, and related conditions.

Posters are listed below in numerical order, matching their presentation numbers onsite.

Poster #	Presenter	Abstract Title
01	Huma Cheema	Clinical Response and Safety of Enzyme Replacement Therapy in Pediatric Patients with Niemann-Pick Disease Type B
02	Huma Cheema	Phenotypic Spectrum of Gaucher Disease (GD) Type 3 in Pakistani Children and Response to ERT
03	Maria Fuller	UX111 Gene Therapy (Rebisufligene Etisparvovec) Led to Reduced CSF Heparan Sulphate Exposure and Improved Bayley Scores in Children with Mucopolysaccharidosis IIIA (MPS IIIA)
04	Paul Geenty	Myocardial Work Is Reduced in Anderson-Fabry Disease and Represents Subclinical Myocardial Dysfunction
05	Zahra Hadipour	15 Year Experience in MPS Type 2 Disease; Diagnosis and Optimal Care at the Iranian Reference Center
06	Farah Lamiable-Oulaidi	Advancing Krabbe Disease Treatment through Combination Therapy
07	Jasmina Markulic	Challenges in Diagnosing Lysosomal Disorders: The Importance of Combined Biochemical and Molecular Analysis
08	Osman Sagda	The Mito Plan Project: Insights on Supporting People with Rare Diseases to Access Generalist Healthcare
09	Uma Ramaswami	A Fabry Outcome Survey Analysis: Early Initiation of Agalsidase Alfa Treatment Improves Clinical Outcomes in Male Patients with Classic Fabry Disease First Author: Guillem Pintos-Morell
10	Uma Ramaswami	Clinical Depression and Impact on Patients with Lysosomal Storage Disorders (LSDs) – A Service Evaluation from a Specialist Centre Using the Beck’s Depression Inventory (BDI-II) First Author: Deepthy Joseph
11	Uma Ramaswami	Fabry Outcome Survey: Long-Term Effectiveness and Safety Outcomes in Pediatric Patients Treated with Agalsidase Alfa
12	Uma Ramaswami	Gaucher Disease – Correlation of Lyso-Gb1 with Biochemical Therapeutic Goals First Author: Simona D’Amore
13	Uma Ramaswami	Long-Term Safety and Efficacy of Migalastat in Adolescent Patients with Fabry Disease: Results from the ASPIRE Study and Open-Label Extension
14	Uma Ramaswami	Quality of Life of Migalastat-Treated Adolescents with Fabry Disease: Results from the ASPIRE Study and Open-Label Extension
15	Sharon Ricardo	Tracking Lysosomal Dysfunction in Fabry Disease Using iPSC-Derived Podocytes and Advanced Imaging
16	Jennifer Saville	Diagnosing the Sphingolipidoses: From Research to Clinical Practice First Author: Maria Fuller
17	Jennifer Saville	Upregulated Sphingolipid de Novo Synthesis Contributes to Ganglioside Dyshomeostasis in a Neuronal Model of Gaucher Disease First Author: Ashleigh Lake
18	Mark Thomas	Fabry Disease and Kidney Transplant Outcomes: A Single-Centre Experience
19	Mark Thomas	Phase 1/2 Clinical Trial Evaluating 4D-310 in Adults with Fabry Disease Cardiomyopathy: Interim Analysis of Cardiac and Safety Outcomes in Patients with 21–42 Months of Follow Up
20	Assel Tulebayeva	The Growth Pattern in Patients with Mucopolysaccharidosis II
21	Ellie Van Velsen	Australia’s First Standard of Care for Niemann-Pick Disease Type C
22	Lachlan Wakeling	Probing Lipophagy Dynamics in Lysosomal Diseases with Novel Fluorescent Reporter
23	Hui-Ying Yeh	Fabry Disease Screening Using Dry Blood Spots in High-Risk Populations

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