WORLDSymposium 2023 Preliminary Program* on Lysosomal Diseases

On Tuesday afternoon, the Robert J. Gorlin Symposium will honor the work of Robert James Gorlin, DDS, PhD. Dr. Gorlin was an maxillofacial pathologist, geneticist and academician at the University of Minnesota School of Dentistry. His groundbreaking research in genetic disorders of the head and neck, spanning over 50 years, revolutionized the understanding of the morphology of lysosomal diseases and many other genetic disorders. The 2nd Annual Robert J. Gorlin Symposium will focus on precision medicine in lysosomal diseases.

Following the Gorlin Symposium, seasoned researchers will provide a global review of the past years’ advances, including a state-of-the-art overview of lysosome biology, diseases and therapies in the Emerging Trends Session. This review evolves every year, providing a summary of the latest research trends, new knowledge, and other discoveries. The course is intended for researchers and health care practitioners who are interested in being current on recent advances in the basic science, diagnosis, and treatment of lysosomal diseases.

1:45 PMRobert J. Gorlin SymposiumPrecision Medicine: A Multidisciplinary Approach
2:00 PMJeanine R. Jarnes
University of Minnesota
Minneapolis, MN, United States
Welcome and Introduction of Speakers and Overview of Precision Medicine
2:15 PMFilippo Pinto e Vairo
Mayo Clinic
Rochester, MN, United States
Case Studies of Multi-Omic Approach for the Diagnosis of Lysosomal Diseases
2:35 PMJenny Goldstein
UNC-Chapel Hill
Chapel Hill, NC, United States
NIH-Funded Resources: ClinGen and ClinVar
2:55 PMJeanine R. Jarnes
University of Minnesota
Minneapolis, MN, United States
Implementation of Pharmacogenomics Programs within Clinical Settings
3:10 PMPanel Discussion and Audience Q&A
4:00 PMEmerging Trends
State-of-the-art for Experts
Introduction and Course Overview
4:01 PMGregory A. Grabowski
Cincinnati Children’s Hospital Research Foundation
Cincinnati, OH, United States
Lysosomal Function and Pathogenesis
4:15 PMMarc C. Patterson
Mayo Clinic Children’s Center
Rochester, MN, United States
Clinical Features
4:30 PMAmy Gaviglio
Centers for Disease Control and Prevention
Minneapolis, MN, United States
Newborn Screening
4:45 PMJeanine R. Jarnes
University of Minnesota
Minneapolis, MN, United States
Lysosomal Disease Therapies
5:00 PMPatroula Smpokou
Office of New Drugs | CDER | FDA
Silver Spring, MD, United States
Regulatory Review
5:15 PMJennifer Klein
National MPS Society
Durham, NC, United States
Patient Perspective
5:30 PMN. Matthew Ellinwood
National MPS Society
Durham, NC, United States
Rare Disease Research
5:45 PMOpen Q&A
6:00 PMBe the Catalyst Event

After the presentation of the Innovation Award, the formal scientific sessions of WORLDSymposium 2023 will officially begin with presentations on laboratory research for lysosomal disease. Presentations during the Basic Science sessions are designed to improve our understanding or prediction of the phenomena involved in lysosomal pathology at a molecular, cellular, and animal model level in order to forwardly think about diagnosis and treatment of lysosomal conditions. These Basic Science sessions are always innovative and present the latest findings in the field. Download the WORLDSymposium 2023 program (PDF 200KB).

Basic Science

Moderators: Brian Bigger, Lalitha Belur, and Michael Przybilla

6:15 AMSatellite Symposia
7:30 AMChester B. Whitley
University of Minnesota
Minneapolis, MN, United States
Welcome & Announcements
Presentation of 2023 Roscoe O. Brady Award to William A. Gahl
William A. Gahl
National Human Genome Research Institute
Bethesda, MD United States
Roscoe O. Brady Award Speaker Presentation: Pursuing Advances in Rare and Undiagnosed Diseases
8:00 AMXiangli Zhao
Department of Orthopaedic Surgery, New York University Grossman School of Medicine
New York, NY, United States
A brain penetrant progranulin-derived biologic protects against neuronopathic Gaucher disease
*2023 Young Investigator Award Recipient
Yi Lin
Cincinnati Children’s Hospital Medical Center
Cincinnati, OH, United States
Earlier-onset, more severe neurodegeneration in PGRN KO mice with a decreased dose of D409V Gba1
Zhenting Zhang
Cincinnati Children’s Hospital Medical Center
Cincinnati, OH, United States
A multifaceted evaluation of microgliosis and differential cellular dysregulations of mTOR signaling with fluctuating lysosome function in neuronopathic Gaucher disease
*2023 Young Investigator Award Recipient
Irene Serrano Gonzalo
Fundación Española para el Estudio y Terapéutica de la Enfermedad de Gaucher y otras lisosomales
Zaragoza, Spain
Study of miRNA expression profiles depending on the severity of bone involvement in patients with Gaucher disease
Moderated Q&AXiangli Zhao, Yi Lin, Zhenting Zhang, and Irene Serrano Gonzalo
9:00 AMMaria Fuller
SA Pathology
North Adelaide, Australia
Signature biomarkers for diagnosis, screening, and biochemical monitoring of the mucopolysaccharidoses
Rebecca Ahrens-Nicklas
The Children’s Hospital of Philadelphia
Philadelphia, PA, United States
Biomarkers of disease severity in multiple sulfatase deficiency
Hannah Best
Cardiff University
Cardiff, United Kingdom
The Batten disease associated protein CLN3 is required for the efflux of lysosomal K+
*2023 Young Investigator Award Recipient
Tyler Pierson
Cedars-Sinai Medical Center
Los Angeles, CA, United States
Modeling CLN6 with IPSC-derived neurons and glia
Moderated Q&AMaria Fuller, Rebecca Ahrens-Nicklas, Hannah Best, and Tyler Pierson
10:00 AMBreak
10:30 AMFrancyne Kubaski
Greenwood Genetic Center
Greenwood, SC, United States
Sensitivity and specificity of four lysosomal disorder biomarkers in dried blood spots
Neil Kasaci
Lysosomal and Rare Disorders Research and Treatment Center
Fairfax, VA, United States
Caspase inhibitors can counteract inflammasome activation and caspase-1 mediated fibrosis in Fabry disease
*2023 Young Investigator Award Recipient
Malte Lenders
University Hospital Muenster
Muenster, Germany
Pre-existing anti-drug antibodies in Fabry disease show less affinity and inhibitory capacity for pegunigalsidase-alfa
Efecan Aral
UMass Amherst
Amherst, MA, United States
Establishing personalized medicine in Fabry disease through functional analysis of disease mutants
Moderated Q&AFrancyne Kubaski, Neil Kasaci, Malte Lenders, and Efecan Aral
11:30 AMBreak and Satellite Symposia
1:00 PMBehzad Najafian
University of Washington
Seattle, WA, United States
The spectrum of podocyte injury in later onset (LO) variants of Fabry disease (FD)
David Smerkous
Oregon State University
Corvallis, OR, United States
Development of an online cloud-based tool for automatic measurement of foot process width (FPW) using deep learning (DL): Applications in assessment of podocyte injury in Fabry disease (FD)
*2023 Young Investigator Award Recipient
Alex Shamoun
University of Florida
Gainesville, FL, United States
Differences in organ abundance of iduronate 2-sulfatase and intravenous recombinant enzyme delivery: Potential implications for clinical response to ERT in MPS II
Marta Artola
Leiden University
Leiden, Netherlands
1,6-epi-cyclophellitol cyclosulfamidate is a new superior lysosomal α-glucosidase stabilizer for the treatment of Pompe disease
Moderated Q&ABehzad Najafian, David Smerkous, Alex Shamoun, and Marta Artola
2:00 PMZoubida Karim
Toulouse University III,
Toulouse, France
Brain iron accumulation in Sanfilippo syndrome: In-situ characterization of cell type and altered mechanisms
Frederick Ashby
University of Florida
Gainesville, FL, United States
Bone pathology within Sanfilippo syndrome type B mice as a novel biometric for peripheral disease correction
Chloé Dias
Infinity Center, Université Toulouse III Paul Sabatier
Toulouse, France
Microglia-derived extracellular vesicles promote neuropathology in Sanfilippo syndrome
*2023 Young Investigator Award Recipient
Andres Leal
Nemours Children Hospital
Bogotá, Colombia
Magnetite nanoparticles as a vehicle to transport recombinant hexosaminidase A and B through an in vitro model of the blood-brain barrier
Moderated Q&AZoubida Karim, Frederick Ashby, Chloé Dias, and Andres Leal
3:00 PMPoster Session Exhibit Hall
5:15 PMSpeed Mentoring Session

After the presentation of the 2023 Young Investigator Awards and the Patient Advocate Leader (PAL) award, the entirety of the research presentations on Thursday will be dedicated to the Translational Research category. In 2023, many of the presentations will be dedicated to research topics in gene therapy, including innovations occurring in genetic therapeutic approaches in translation from laboratory to the clinic. Download the WORLDSymposium 2023 program (PDF 200KB).

Translational Research

Moderators: PJ Brooks, Amy Gaviglio, and Francyne Kubaski

6:15 AMSatellite Symposia
7:30 AMChester B. Whitley
University of Minnesota
Minneapolis, MN, United States
Welcome & Announcements
Presentation of 2023 Patient Advocate Leader (PAL) Award Announcement to Christine Waggoner and 2023 Young Investigator Awards Presentation
8:00 AMAnna-Maria Wiesinger
Paracelsus Medical University Salzburg
Salzburg, Austria
A precision medicine tool for high utilization and quality of individual treatment trials with immunomodulatory drugs in mucopolysaccharidosis
*2023 Young Investigator Award Recipient
Barbara Burton
Northwestern University Feinberg School of Medicine
Chicago, IL, United States
Newborn screening for mucopolysaccharidosis type II
Stuart Ellison
University of Manchester
Manchester, United Kingdom
Validation of a GMP stem cell gene therapy manufacturing process for mucopolysaccharidosis type II (MPS II) in preparation for an approved phase I/II clinical trial
Anna Luzzi
The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
Torrance, CA, United States
Decreased regulatory T-cells in patients with Sanfilippo syndrome may allow the development of autoimmune disease
Moderated Q&AAnna-Maria Wiesinger, Barbara Burton, Stuart Ellison, and Anna Luzzi
9:00 AMKim Hemsley
Flinders University
Bedford Park, Australia
A prohibitin-targeting drug modifies aspects of disease in a mouse model of Sanfilippo syndrome
Simon Jones
St. Mary’s Hospital
Manchester, United Kingdom
Sustained biochemical engraftment and early clinical outcomes following ex-vivo autologous stem cell gene therapy for mucopolysaccharidosis type IIIA
Oriana Mandolfo
University of Manchester
Manchester, United Kingdom
Developing an iPSC-based neural gene therapy approach for MPS IIIA
Nissrine Ballout
Toulouse Institute for Infectious and Inflammatory Diseases, Université Toulouse III Paul Sabatier
Toulouse, France
Development and validation of a novel adeno-associated viral gene therapy for mucopolysaccharidosis type IIIB (MPS IIIB)
*2023 Young Investigator Award Recipient
Moderated Q&AKim Hemsley, Simon Jones, Oriana Mandolfo, and Nissrine Ballout
10:00 AMBreak & Exhibits
10:30 AMTroy Lund
University of Minnesota
Minneapolis, MN, United States
Decreases in CSF neuro-inflammatory markers are associated with gain in neurocognitive function after ERT + HCT in Hurler syndrome
Roselena Schuh
Universidade Federal do Rio Grande do Sul
Porto Alegre, Brazil
Nasal administration of laronidase-loaded liposomes aiming at mucopolysaccharidosis type I treatment
*2023 Young Investigator Award Recipient
Michael Przybilla
University of Minnesota
Minneapolis, MN, United States
Treating murine Hurler syndrome utilizing small-activating RNA following bone marrow transplant
Betul Celik
University of Delaware
Newark, DE, United States
Lentiviral gene therapy for mucopolysaccharidosis type IVA
Moderated Q&ATroy Lund, Roselena Schuh, Michael Przybilla, and Betul Celik
11:30 AMBreak, Exhibits and Satellite Symposia
1:00 PMLeigh Fremuth
St. Jude Children’s Research Hospital
Memphis, TN, United States
AAV-mediated gene therapy for galactosialidosis: A long-term safety and efficacy study
Sandra Vranic
University of Manchester
Manchester, United Kingdom
Defect-free graphene enhances enzyme delivery to fibroblasts derived from the patients with lysosomal disorders
Paul Orchard
University of Minnesota
Minneapolis, MN, United States
Compassionate use of OTL-200 for patients with metachromatic leukodystrophy
Laura Adang
Children’s Hospital of Philadelphia
Philadelphia, PA, United States
Developmental delay can precede neurologic regression in metachromatic leukodystrophy
Moderated Q&ALeigh Fremuth, Sandra Vranic, Paul Orchard, and Laura Adang
2:00 PMLars Schlotawa
University Medical Center Goettingen
Goettingen, Germany
Screening of approved drugs identifies 3rd generation retinoids as in vitro therapeutic agents in multiple sulfatase deficiency
Aimee Donald
University of Manchester
Manchester, United Kingdom
Sustained improvement of clinical CNS and somatic features of Gaucher disease type 3 after haematopoietic stem cell (HSC) gene therapy: A first-in-world report
Andreas Hahn
University Hospital Giessen
Giessen, Germany
Treatment of CLN1 disease with a blood-brain barrier penetrating lysosomal enzyme AGT-194
Jason Weesner
St. Jude Children’s Research Hospital
Memphis, TN, United States
Preclinical enzyme replacement therapy with a recombinant β-galactosidase-lectin fusion for CNS delivery and treatment of GM1-gangliosidosis
*2023 Young Investigator Award Recipient
Moderated Q&ALars Schlotawa, Aimee Donald, Andreas Hahn, and Jason Weesner
3:00 PMPoster SessionExhibit Hall
5:15 PMSatellite Symposia

Friday will begin with a keynote address Taking Gene Therapy to the Next Level by Dr. Peter Marks. Following Dr. Marks’s address, the presentations shift to Clinical Applications, including abstracts on Clinical Trials for Registration. Abstracts presented in this category will have a US FDA Investigational New Drug (IND) application for a phase I-III clinical trial or hold an EMA Investigational Medicinal Product Dossier (IMPD) or equivalent. Clinical Outcomes abstracts will also be presented. Download the WORLDSymposium 2023 program (PDF 200KB).

Clinical Applications

Moderators: Lynda Polgreen, Marc Patterson, and Filippo Vairo

6:15 AMSatellite Symposia
7:30 AMChester B. Whitley
University of Minnesota
Minneapolis, MN, United States
Welcome and Keynote Speaker Introduction
Peter Marks
Center for Biologics Evaluation and Research
Silver Spring, MD, United States
Taking Gene Therapy to the Next Level
8:00 AMFrancesca Fumagalli
San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute
Milan, Italy
Long-term clinical outcomes of atidarsagene autotemcel (autologous hematopoietic stem cell gene therapy [HSC-GT] for metachromatic leukodystrophy) with up to 11 years follow-up
Maria Jose De Castro Lopez
Hospital Clínico Santiago
Santiago, Spain
Twice weekly dosing with sebelipase alfa rescues severely ill infants with Wolman disease
Robert Hopkin
Cincinnati Children’s Hospital Medical Center
Cincinnati, OH, United States
STAAR, a phase I/II study of isaralgagene civaparvovec (ST-920) gene therapy in adults with Fabry disease: Dose escalation phase results
Kevin Flanigan
Research Institute of Nationwide Children’s Hospital
Columbus, OH, United States
Interim results of Transpher A, a multicenter, single-dose clinical trial of UX111 gene therapy for Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA)
Moderated Q&AFrancesca Fumagalli, Maria Jose De Castro Lopez, Robert Hopkin, and Kevin Flanigan
9:00 AMJoseph Muenzer
University of North Carolina Chapel Hill
Chapel Hill, NC, United States
Interim analysis of key clinical outcomes from a phase 1/2 study of weekly intravenous DNL310 (brain-penetrant enzyme replacement therapy) in MPS II
Paul Harmatz
UCSF Benioff Children’s Hospital Oakland
Oakland, CA, United States
Interim results of a phase 1/2 study of JR-171 (lepunafusp alfa), a novel brain-penetrant enzyme replacement therapy for MPS I
Raymond Wang
CHOC Children’s Specialists
Orange, CA, United States
RGX-111 gene therapy for the treatment of severe mucopolysaccharidosis type I (MPS I): Interim analysis of data from the first in human study
Cara O’Neill
Cure Sanfilippo Foundation
Columbia, SC, United States
Development of consensus guidelines for the clinical care of individuals with Sanfilippo syndrome
Moderated Q&AJoseph Muenzer, Paul Harmatz, Raymond Wang, and Cara O’Neill
10:00 AMBreak & Exhibits
10:30 AMBarry Byrne
University of Florida
Gainesville, FL, United States
Long-term follow-up of cipaglucosidase alfa/miglustat in ambulatory patients with Pompe disease: An open-label phase I/II study (ATB200-02)
Erin Huggins
Duke University
Durham, NC, United States
Longitudinal follow up uncovers an early emerging phenotype in children with late-onset Pompe disease diagnosed via newborn screening
Priya Kishnani
Duke University Medical Center Durham
Durham, NC, United States
Efficacy and safety of avalglucosidase alfa in participants with late-onset Pompe disease after 145 weeks of treatment during the COMET trial
Jordi Diaz Manera
Newcastle University
Newcastle Upon Tyne, United Kingdom
AT845 gene replacement therapy for late onset Pompe disease: An update on safety and preliminary efficacy data from FORTIS, a phase I/II open-label clinical study
Moderated Q&ABarry Byrne, Erin Huggins, Priya Kishnani, and Jordi Diaz Manera
11:30 AMBreak, Exhibits and Satellite Symposia
1:00 PMEric Wallace
University of Alabama
Birmingham, AL, United States
First results of a head-to-head trial of pegunigalsidase alfa vs. agalsidase beta in Fabry disease: 2 year results of the phase 3 randomized, double-blind, BALANCE study
John Bernat
University of Iowa Hospitals and Clinics
Iowa City, IA, United States
Long-term safety and efficacy of pegunigalsidase alfa administered every 4 weeks in patients with Fabry disease: Two-year interim results from the ongoing phase 3 BRIGHT51 open-label extension study
Melissa Wasserstein
Albert Einstein College of Medicine/Children’s Hospital at Montefiore
Bronx, NY, United States
Plasma lyso-sphingomyelin as a biomarker for acid sphingomyelinase deficiency: Correlations with baseline disease and response to olipudase alfa treatment in clinical trials
Roberto Giugliani
Federal University of Rio Grande do Sul
Porto Alegre, RS, Brazil
Long-term catch-up growth in children with acid sphingomyelinase deficiency treated with olipudase alfa enzyme replacement therapy in the ASCEND-Peds trial
Moderated Q&AEric Wallace, John Bernat, Melissa Wasserstein, Roberto Giugliani
2:00 PMPramod Mistry
Yale University School of Medicine
New Haven, CT, United States
Changes in hematologic and visceral manifestations over time following imiglucerase initiation in Gaucher disease type 1 and type 3 pediatric patients in the ICGG Gaucher Registry
Jeanine Jarnes
University of Minnesota
Minneapolis, MN, United States
Updated interim safety, biomarker, and efficacy data from Imagine-1: A phase 1/2 open-label, multicenter study to assess the safety, tolerability, and efficacy of a single dose, intra-cisterna magna (ICM) administration of PBGM01 in subjects with type I (early onset) and type IIA (late onset) infantile GM1 gangliosidosis (GM1)
Yoshikatsu Eto
Institute of Neurological Disease
Kawasaki City, Japan
Real-world data of enzyme replacement therapy with pabinafusp alfa for neuronopathic MPS-II: Updated clinical data from Japan
David Rogers
Nationwide Children’s Hospital
Columbus, OH, United States
Intravitreal enzyme replacement therapy to prevent retinal disease progression in children with neuronal ceroid lipofuscinosis type 2 (CLN2): Interim safety report
Moderated Q&APramod Mistry, Jeanine Jarnes, Yoshikatsu Eto, and David Rogers
3:00 PMPoster SessionExhibit Hall
5:30 PMSatellite Symposia

The fourth research day of the meeting began with the New Treatment Awards. Then, for the fourth year, the Contemporary Forum allows for presentation of scientific abstracts — Basic, Translational, and Clinical — submitted by industry first-author researchers. Although the first three days of WORLDSymposium are accredited and approved for CME credit, Commercial Interests are not eligible for ACCME accreditation. The Contemporary Forum allows commercial interests to present their work to the WORLDSymposium audience, in this non-CME session, while being held to all the same standards as the ACCME accredited sessions and scored for merit and interest by the same Program Committee. Download the WORLDSymposium 2023 program (PDF 200KB).

Contemporary Forum

Moderators: Nishitha Pillai, Dan Tagle, and Ellen Sidransky

6:15 AMSatellite Symposia
7:30 AMChester B. Whitley
University of Minnesota
Minneapolis, MN, United States
Welcome and New Treatment Awards
8:00 AMShababa Masoud
Denali Therapeutics
South San Francisco, CA, United States
ETV:SGSH, a brain-penetrant enzyme transport vehicle for SGSH, corrects heparan sulfate accumulation, lysosomal lipid storage and inflammation in MPS IIIA mouse brain
Asuka Inoue
JCR Pharmaceuticals Co., Ltd.
Kobe, Japan
Nonclinical pharmacodynamics, pharmacokinetics and safety profiles of anti-human transferrin receptor antibody-fused N-sulfoglucosamine sulfohydrolase for mucopolysaccharidosis type IIIA
Andrew Hedman
M6P Therapeutics
St. Louis, MO, United States
Novel dual promoter AAV gene therapy platform ensures production of therapeutic soluble lysosomal enzymes with high M6P content to enable broad cellular uptake and cross correction in vivo
Charu Reddy
Codexis
San Carlos, CA, United States
An engineered β-galactosidase with improved stability and cross-correction for the potential treatment of GM1 gangliosidosis via AAV gene therapy
Moderated Q&AShababa Masoud, Asuka Inoue, Andrew Hedman, and Charu Reddy
9:00 AMStephanie Cherqui
University of California San Diego
La Jolla, CA, United States
Phase 1/2 clinical trial of autologous hematopoietic stem and progenitor cell (HSPC) gene therapy for cystinosis
Shyam Ramachandran
Sanofi
Waltham, MA, United States
AAV-ARSA-mediated gene replacement for the treatment of metachromatic leukodystrophy
Mathews Adera
AVROBIO, Inc.
Cambridge, MA, United States
The Guard1 clinical trial – A first in-human, phase 1/2 study evaluating AVR-RD-02, a hematopoietic stem cell (HSC) gene therapy for Gaucher disease: Preliminary safety, pharmacodynamic and clinical efficacy results from the subjects observed for up to 24 months post-infusion
Maria Escolar
Forge Biologics
Grove City, OH, United States
First-in-human phase 1/2 trial of intravenous FBX-101 following hematopoietic stem cell transplantation increases GALC activity, supports brain development, and improves motor function in patients with infantile Krabbe disease: RESKUE clinical trial
Moderated Q&AStephanie Cherqui, Shyam Ramachandran, Mathews Adera, and Maria Escolar
10:00 AMBreak & Exhibits
10:30 AMRaphael Schiffmann
4D Molecular Therapeutics
Emeryville, CA, United States
Cardiac effects of 4D-310 in adults with Fabry disease in a phase 1/2 clinical trial: Functional, quality of life, and imaging endpoints in patients with 12 months of follow up
Russell Gotschall
M6P Therapeutics
St. Louis, MO, United States
M021: rhGAA with optimal glycosylation profile containing very high levels of bis-phosphorylated N-glycans clears accumulated glycogen and rapidly normalizes muscle strength in treated Pompe disease mice
Ana Puhl
Collaborations Pharmaceuticals, Inc.
Raleigh, NC, United States
Developing treatments for rare diseases on a shoestring: The Batten disease (CLN1) enzyme replacement therapy experience
Michael Gelb
University of Washington
Seattle, WA, United States
A glimpse into the feasibility of next generation sequencing for newborn screening of lysosomal and other diseases with second-tier biochemical assays as part of the screening process
Moderated Q&ARaphael Schiffmann, Russell Gotschall, Ana Puhl, and Michael Gelb
11:30 AMBreak, Exhibits and Satellite Symposia
1:00 PMKyle Landskroner
Azafaros AG
Basel, Switzerland
AZ-3102 significantly increases survival and decreases neuroinflammation in a mouse model of Sandhoff disease
Julie Ullman
Maze Therapeutics
South San Francisco, CA, United States
Small molecule inhibition of glycogen synthase 1 restores autophagolysosomal and metabolic pathway dysfunction in a mouse model of Pompe disease
Shivakumar Pattada
BioStrategies LC
State University, AR, United States
RTB-lectin facilitates the distribution of enzymes across the blood-brain-barrier and correction in the MPS IIIA mouse model
Michael Tortorici
Aro Biotherapeutics
Berwyn, PA, United States
Centyrin-targeted glycogen synthase-1 siRNA conjugates: A novel therapeutic modality for the treatment of Pompe disease
Moderated Q&AKyle Landskroner, Julie Ullman, Shivakumar Pattada, and Michael Tortorici
2:00 PMNagy Habib
MiNA Therapeutics Ltd
London, United Kingdom
Drugging transcription factors with small activating RNAs: A novel approach for enhancing bone marrow therapy for monogenic rare diseases
Meera Modi
Takeda
Cambridge, MA, United States
Building a better translational model of neuropathic Gaucher disease
Yinyin Huang
Sanofi
Cambridge, MA, United States
Using single nuclear RNAseq to assess impact of AAV-ARSA gene therapy on oligodendrocyte populations
Kwi Hye Kim
REGENXBIO Inc
Rockville, MD, United States
In vitro pharmacology study using retina organoids and retina-on-a-chip of CLN2 patient-derived induced pluripotent stem cells
Moderated Q&ANagy Habib, Meera Modi, Yinyin Huang, and Kwi Hye Kim
3:00 PMPoster Session Exhibit Hall

Toward bringing the most recent research to the platform of WORLDSymposium 2023, after the late-breaking abstract submissions closes on December 1, 2022, selected late-breaking abstracts will be identified by the Program Committee as being suitable for platform presentation. In order to provide access to the “hot-off-the-presses” content from these researchers, late-breaking abstracts will be reviewed and scored, and the top-scoring abstracts will be selected for presentation during the 2023 meeting. Download the WORLDSymposium 2023 program (PDF 200KB).

Late-Breaking Science

Moderators: Elizabeth Braunlin, Roberto Giugliani, and Rebecca Ahrens-Nicklas

8:00 AMLate-breaking SessionComing Soon
Moderated Q&A(TBA)
9:00 AMLate-breaking SessionComing Soon
Moderated Q&A(TBA)
10:00 AMBreak
10:15 AMLate-breaking SessionComing Soon
Moderated Q&A(TBA)
11:15 AMReception & Adjourn

*This is a preliminary program only. ALL times and speakers will be subject to change. Be sure to check back weekly as updates are made. All times are Eastern Standard Time (EST).

Attention to All Platform Speakers: It is the policy of WORLDSymposium to publish all abstracts with the list of authors exactly as the abstract was submitted to WORLDSymposium. The first author of the submitted abstract will be listed as the Platform Speaker (presenting author) on the Preliminary Program, Agenda, and Poster List.

All requests for changes to the Platform Speaker (presenting author) will be reviewed by the WORLDSymposium Planning Committee prior to approval. No changes will be made to the Preliminary Program posted online; any changes to the Platform Speaker will be announced from the podium by the Moderators only at the time of the platform presentation. The Preliminary Program will remain published with the original first author, and all communication will continue to go to the first author of the abstract.

The submitting first author will continue to receive all instructions from the automated abstract notification system. Please be sure that the first author is aware they will need to forward any email instructions for PowerPoint preparation, and for advance review of presentations. Meeting the presentation guidelines and submitting presentations for prior review must be done to meet ACCME accreditation requirements.

Reference the Frequently Asked Questions pages for additional information.