Discovery Pharmacology for Lysosomal Storage Diseases: Models, Mechanisms, Biomarkers
Lysosomal storage diseases (LSDs) represent one of the most mechanistically rich and translationally demanding areas of rare disease drug discovery. Yet model selection missteps can delay programs by years or lead to costly late-stage failures when therapies don't translate. As therapeutic strategies expand, teams need fit-for-purpose preclinical models that capture cell-type vulnerability, substrate accumulation, neuroinflammation, and progressive neurodegeneration, with clear, decision-driving readouts to evaluate how candidate therapies influence LSD-relevant pathology and behavior.
Join Aaron Fantina-Woblistin, PhD, R&D Officer, Scantox Neuro, for "Discovery Pharmacology for Lysosomal Storage Diseases: Models, Mechanisms, Biomarkers" on January 20, 2026 | 15:00 CET (9:00 AM EST) followed by a Q&A session.
This session will review how in vivo and in vitro LSD models—built around specific genetic defects and/or transgenes—are selected and tailored to program goals, from early screening through candidate selection. The discussion will cover principles applicable across multiple LSD models, including those for Niemann-Pick, mucopolysaccharidoses, Pompe disease, and Gaucher-related disorders. Practical study design and commonly used endpoints to assess pharmacological impact will be addressed, including enzyme and substrate measurements, neuroinflammation, visceral organ pathology, survival, and functional outcomes such as muscle strength and motor deficits, depending on the model and study objectives.
Key Learning Objectives
- Review core LSD in vivo and in vitro model options and how they support different stages of discovery—from early screening through candidate selection.
- Understand the most common LSD study readouts and how they support decision-making: enzyme/substrate measurements, neuroinflammation, visceral organ pathology, survival, and functional outcomes (e.g., muscle strength/motor deficits).
- Learn how to align model choice and endpoints with program goals and therapeutic approach, and how to customize study design to specific research questions.
- Explore practical study design variables, including treatment timing (pre-symptomatic vs. symptomatic), tissue focus, and endpoint selection/kinetics.
Who Should Attend
- Rare disease researchers and translational teams developing therapies for LSDs with multi-organ involvement, including programs with neurological components.
- Discovery pharmacologists and translational scientists building fit-for-purpose PK/PD and endpoint strategies for LSD candidates.
- Biotech and pharma teams advancing enzyme replacement, substrate reduction, chaperone, or gene-based approaches for lysosomal disorders.
- Scientific consultants and program leaders seeking practical guidance on model selection and study design to accelerate go/no-go decisions.
Meet The Presenter
Dr. Aaron Fantina-Woblistin is a Research & Development Officer for In Vivo Discovery at Scantox Neuro, where he leads the development and implementation of advanced in vivo models to support CNS drug discovery. His work focuses on establishing new methods and translational models to generate meaningful, decision-enabling data. Aaron holds a PhD in Biochemistry and Molecular Biology from Dalhousie University, with prior degrees from the Technical University in Graz and University of Innsbruck.