3rd Annual Robert J. Gorlin Symposium

Beyond the Blood Brain Barrier:
Strategies for Treating the CNS 

Course Director: Jeanine R. Jarnes, PharmD, MSc, BCOP, BCPS
February 6, 2024
5:15 – 7:30 PM


Each year, WORLDSymposium identifies an unmet need, or critical topic for presentation and discussion in the Annual Robert J. Gorlin Symposium. For 2024, this 2.25-hour non-CE session discussed current approaches for treating the central nervous system in lysosomal diseases. Presentations included an overview of current and future approaches for treating the central nervous system, and address challenges in identifying and implementing meaningful outcome measures for evaluating efficacy of central nervous system therapies. 

The short-term mission of this session was to provide a broad, sweeping overview (“10,000-foot view”, or possibly even 30,000-foot view) of the current landscape for treating the central nervous system in lysosomal diseases, thereby giving a broad general impression of the current status of CNS treatments.  

The long-term mission of this session was to set the stage for future, regularly-held meetings or workshops on this very topic. These future meetings will be designed for more in-depth coverage of key components, as well as generating white papers and creating a platform that will provide ongoing updates, and consensus-based levels of evidence. 

Preliminary Agenda

Tuesday, February 6, 2024 (5:15 – 7:30 PM)

5:15 PMWelcome (Jeanine R. Jarnes)
5:17 PMIntroduction (Robert G. Thorne)
5:20 PMOvercoming challenges in quantifying developmental change for clinical trials (Elsa G. Shapiro)
5:30 PMCrossing the blood-brain barrier with in utero enzyme replacement therapy for lysosomal diseases (Tippi MacKenzie)
5:40 PMIntracerebroventricular infusion strategy for the delivery of cerliponase alfa to the central nervous system (Guillermo Seratti)
5:50 PMVenglustat and the Brain (Mario Aguiar)
6:00 PMIntra-cisterna magna administration of AAV gene therapy for neurodegenerative disorders (Samiah Al-Zaidy)
6:10 PMJCR Pharmaceuticals tailored Approaches for Treating the Central Nervous System Signs and Symptoms in neuronopathic Lysosomal Diseases (Mathias Schmidt)
6:20 PMConnecting the dots: Use of early biomarkers to predict longer term functional outcomes (Heather Lau)
6:30 PMFabry in the CNS? (Biliana Veleva-Rotse)
6:40 PMIntracisternal administration of investigational AAV9 gene therapies to target the central nervous system in pediatric lysosomal disorders (Laura Pisani)
6:50 PMPhysiologic determinants of treatment efficacy for neuropathic lysosomal storage disorders: Key considerations in going across or bypassing the blood-brain barrier (Robert G. Thorne)
7:00 PMQ & A
7:30 PMAdjourn

Course Director:
Jeanine R. Jarnes, PharmD, MSc, BCOP, BCPS
Assistant Professor, Department of Pediatrics
Pharmacotherapy for Inherited Metabolic Diseases
Advanced Therapies Department
College of Pharmacy, Experimental and Clinical Pharmacology
University of Minnesota
Minneapolis, MN, United States

Robert G. Thorne, PhD
Denali Fellow
Head, Denali Postdoc Program
Denali Therapeutics, South San Francisco, CA
Adjunct Associate Professor, Department of Pharmaceutics
University of Minnesota-Twin Cities, Minneapolis, MN
President, International Brain Barriers Society,
Editorial Board Member, Fluids & Barriers of the CNS

Elsa G. Shapiro, PhD, ABPP
Professor of Pediatrics and Neurology, Division of Pediatric Behavioral Neuroscience
University of Minnesota, Minneapolis, MN
Managing Partner at Shapiro Neuropsychology Consulting, LLC


Tippi MacKenzie
Professor of Surgery
Division of Pediatric Surgery
UCSF School of Medicine
University of California, San Francisco

Guillermo Seratti
Medical Director
BioMarin Pharmaceutical Inc.

Mario Aguiar
Venglustat Medical Lead
Global Medical Affairs, Rare Diseases

Samiah Al-Zaidy
Vice President, Clinical Development

Mathias Schmidt
Vice President, Clinical Development, Global Business Strategy and Business Development
JCR Pharmaceuticals

Heather Lau
Executive Director, Global Clinical Development

Biliana Veleva-Rotse
Amicus Global Medical Director and Medicines Lead for Fabry
Amicus Therapeutics

Laura Pisani
Senior Medical Director, Clinical Development

Thank you to the sponsors for this session