WORLDSymposium 2024 Preliminary Program on Lysosomal Diseases

On Sunday afternoon, WORLDSymposium presented an exciting new program: The Patient Voice: Is Anyone Listening? The goal of this 2-hour non-CE session was to enhance awareness of the importance of listening to what therapy outcomes and unmet needs are most important to patients and their families, and incorporating those outcomes into clinical trial design and post-trial marketing follow-up. 

Following the Patient Voice session, and celebrating 20 Years of WORLDSymposium, the 2nd Annual “Be the Catalyst” event, made possible by generous support from Sanofi, was an exciting event, open to all WORLDSymposium participants. This event provided opportunities to participate in all of the fun scheduled group photos, reconnect with colleagues, make new connections, establish new relationships, welcome new attendees, and celebrate the achievements of past and present WORLDSymposium Award Recipients.

The Patient Voice: Is Anyone Listening?
4:00 PMJeanine R. Jarnes
University of Minnesota
Minneapolis, MN,
United States
4:01 PMAlan Finglas
MSD Action Foundation
Introductory Remarks from Family Perspective
4:05 PMTippi MacKenzie
University of California, San Francisco
San Francisco, CA,
United States
Earlier is better: Updates on a Phase I clinical trial of in utero enzyme replacement therapy
4:15 PMDanielle Dong
From Commitment to Co-Creation: Over 30 Years of Partnership with the Patient Community
4:25 PMHeather Park
As Unique as You: A Personalized Approach to Supporting the Patient’s Journey
4:35 PMSairei So
JCR Pharmaceuticals
The voice of caregiver study in MPS II and other notable caregiver observations made in JCR’s clinical MPS programs
4:45 PMHeather Lau
Incorporating the patient/caregiver voice in rare disease drug development using the biopsychosocial model
4:55 PMNita Patel
Amicus Therapeutics
Best practices in patient education: How to create tools that meet community needs
5:05 PMAndres Trevino
Chiesi USA, Inc.
Embracing the silence: Taking listening to a new level. Mindfully rare mental health in the Fabry community.
5:15 PMAndrea Atherton
Improving Therapeutic Options in Cystinosis Through Partnerships with Patients, Caregivers and Healthcare Providers
5:25 PMCara O’Neill
Cure Sanfilippo Foundation
Closing Remarks from Family Perspective
5:35 PMMatthew Ellinwood
National MPS Society
Q&A and Panel Discussion (Moderated by Matthew Ellinwood)
5:45 PMAdjourn
6:00 PMBe the Catalyst Event

After the presentation of the Innovation Award, the formal scientific sessions of WORLDSymposium 2024 officially began with presentations on laboratory research for lysosomal disease. Presentations during the Basic Science sessions were 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 2024 program (PDF 200KB).

Basic Science

Co-Chairs: Lalitha Belur, Greg Grabowski, Michael Przybilla

6:15 AMSatellite Symposia
7:30 AMChester B. Whitley
University of Minnesota
Minneapolis, MN, United States
Welcome & Announcements
Presentation of 2024 Roscoe O. Brady Award to Elsa Shapiro
Elsa G. Shapiro
University of Minnesota
Shapiro Neuropsychology Consulting, LLC 
Portland, OR, United States
Roscoe O. Brady Award Presentation: The Contribution of Neuropsychology to Understanding Lysosomal Diseases
8:00 AMOriana Mandolfo
University of Manchester
Manchester, United Kingdom
Systemic inflammation leads to neuronal loss and exacerbates behavioural deficits in a mouse model of MPS IIIA
Helen Parker
University of Manchester
Manchester, United Kingdom
The meningeal immune landscape in mucopolysaccharidosis type IIIA
Jacqueline Hernandez
The Lundquist Institute at Harbor-UCLA
Torrance, CA, United States
Defects in cell polarity of mucopolysaccharidosis type III (MPS III) forebrain neurons
Travis Moore
University of Montreal
Montreal, QC, Canada
A small molecule drug, AVP6, rescues synaptic deficits in human iPSC-derived neurons across the mucopolysaccharidosis type III spectrum
Moderated Q&AMandolfo, Parker, Hernandez, Moore
9:00 AMYuki Shiro
Tokushima University
Tokushima, Japan
CTSD integrity in the endoplasmic reticulum is required for CLN6’s anti-aggregate activity
*2024 Young Investigator Award Recipient
Ching-Chieh Chou
Stanford University
Stanford, CA, United States
Human transdifferentiated neurons reveal lysosomal repair deficits in Alzheimer’s disease
Salma Begum
Columbia University Irving Medical Center
New York, NY, United States
The psychosine and galactosylceramide brain spatial distribution and its correlation with neuropathogenic processes
Marya S. Sabir
National Institutes of Health
Bethesda, MD, United States
Advancing free sialic acid storage (FSASD) disorder disease modeling: Insights from iPSC-derived neural cell types
Moderated Q&AShiro, Chou, Begum, Sabir
10:00 AMBreak
10:30 AMCaitlin Calhoun
CHOC Children’s Research Institute
Orange, CA, United States
Functional efficacy of transplanted, iPSC-derived, human neural stem cells in the brains of MPS I mice
Bryce Binstadt
University of Minnesota
Minneapolis, MN, United States
Identification of inflammatory cells in dilated ascending aortas of IDUA-deficient (MPS I) mice
Esteban Alberto Gonzalez
Universidade Federal do Rio Grande do Sul
Porto Alegre, Brazil
Losartan treatment in mucopolysaccharidosis type I mice: Beneficial effects on aortic structure and pathways insights
*2024 Young Investigator Award Recipient
Gabrielle Dineck Iop
Hospital de Clínicas de Porto Alegre
Porto Alegre, Brazil
Biomarker distribution in tissues of MPS I mice: Measurement of disease-specific oligosaccharides by LC-MS/MS
Moderated Q&ACalhoun, Binstadt, Gonzalez, Iop
11:30 AMBreak and Satellite Symposia
1:00 PMIrene Serrano Gonzalo
Fundación Española Para el Estudio y Terapéutica de la Enfermedad de Gaucher y Otras Lisosomales
Zaragoza, Spain
Bone involvement in Gaucher disease: Can miRNAs determine or predict the severity degree?
*2024 Young Investigator Award Recipient
Francyne Kubaski
Greenwood Genetic Center
Greenwood, SC, United States
Sensitivity and specificity of serum oligosaccharide analysis for the diagnosis and treatment monitoring of patients with alpha-mannosidosis
Maria Fuller
SA Pathology
North Adelaide, Australia
A multiplex lipid platform improves the laboratory diagnosis of the sphingolipidoses
Sarah Young
Duke University School of Medicine
Durham, NC, United States
Measurement of glycosaminoglycans in the amniotic fluid of fetuses with mucopolysaccharidoses treated in a phase I clinical trial by in utero enzyme replacement therapy
Moderated Q&ASerrano Gonzalo, Kubaski, Fuller, Young
2:00 PMJerry Fuad Harb
Children’s Hospital of Orange County
Orange, CA, United States
Exploring Pompe disease: Insights into the natural history of novel Gaac.1826dupA knock-in murine model
Chloe L. Christensen
Children’s Hospital of Orange County
Orange, CA, United States
Restoration of acid-alpha glucosidase expression and function through efficient adenine base editing of Pompe disease variants
Shih-hsin Kan
CHOC Children’s Research Institute
Orange, CA, United States
Improvement of hypertrophic cardiomyopathy in Gaac.1826dupA knock-in murine model with neonatal gene therapy
Patricia Lam
Abigail Wexner Research Institute at Nationwide Children’s Hospital
Columbus, OH, United States
Liver-directed AAV gene therapy corrects disease symptoms in a murine model of lysosomal acid lipase deficiency
Moderated Q&AHarb, Christensen, Kan, Lam
3:00 PMPoster SessionExhibit Hall
5:15 PMSpeed Mentoring Event

After the presentation of the 2024 Young Investigator Awards and the Patient Advocate Leader (PAL) award, the entirety of the research presentations on Tuesday were dedicated to the Translational Research category. In 2024, many of the presentations were dedicated to research topics in gene therapy, including innovations occurring in genetic therapeutic approaches in translation from laboratory to the clinic. Download the WORLDSymposium 2024 program (PDF 200KB).

Translational Research

Co-Chairs: Amy Gaviglio, Francyne Kubaski, Dan Tagle

6:15 AMSatellite Symposia
7:30 AMChester B. Whitley
University of Minnesota
Minneapolis, MN, United States
Welcome & Announcements
Presentation of 2024 Patient Advocate Leader (PAL) Award Announcement to Alan Finglas and 2024 Young Investigator Awards Presentation
8:00 AMJillian Gallagher
University of Massachusetts Chan Medical School
Worcester, MA, United States
Adeno-associated viral gene therapy for sialidosis using small and large animal models
Emilie Audouard
Paris Brain Institute
Paris, France
Intravenous gene therapy using AAVPHP.eB for metachromatic leukodystrophy
Patricia I. Dickson
Washington University St. Louis
St. Louis, MO, United States
Gene therapy with AAV-S1S3 improves disease in mucolipidosis type II mice
Kim M. Hemsley
Flinders University
Adelaide, SA, Australia
Superior outcomes in neuroretina following IV versus intra-CSF AAV9 gene replacement in mice with MPS IIIA
Moderated Q&AGallagher, Audouard, Dickson, Hemsley
9:00 AMElena Gaia Banchi
Paris Brain Institute
Paris, France
Development and validation of a novel AAV gene therapy for mucopolysaccharidosis type IIIB in large animal
Betul Celik
University of Delaware
Wilmington, DE, United States
Ex vivo lentiviral gene therapy for mucopolysaccharidosis type IVA
*2024 Young Investigator Award Recipient
Vi Pham
University of Pennsylvania
Philadelphia, PA, United States
Single vs. dual transgene ex vivo gene therapy for multiple sulfatase deficiency
*2024 Young Investigator Award Recipient
Rafael A. Badell-Grau
University of California, San Diego
La Jolla, CA, United States
Gene modified hematopoietic stem cell transplantation for mucopolysaccharidosis type IIIC
Moderated Q&ABanchi, Celik, Pham, Badell-Grau
10:00 AMBreak & Exhibits
10:30 AMBartholomew A. Pederson
Ball State University
Muncie, IN, United States
A novel siRNA targeting and delivery platform inhibits glycogen synthesis and reduces glycogen levels in skeletal and cardiac muscle in a mouse model of Pompe disease
Luisa Natalia Pimentel Vera
Stanford University
Stanford, CA, United States
Genome-edited hematopoietic stem cells as a curative approach for Gaucher disease type 1
*2024 Young Investigator Award Recipient
Edina Poletto
Stanford University
Stanford, CA, United States
Clinical development of autologous genome-edited hematopoietic stem cells to treat mucopolysaccharidosis type I
*2024 Young Investigator Award Recipient
Allisandra Rha
Children’s Hospital of Orange County
Orange, CA, United States
Prime editing corrects the Gaac.1935C> A pathogenic variant in infantile-onset Pompe disease mouse myoblasts
Moderated Q&APederson, Pimentel Vera, Poletto, Rha
11:30 AMBreak, Exhibits & Satellite Symposia
1:00 PMSandra Vranic
University of Manchester
Manchester, United Kingdom
Graphene flakes for enhanced delivery of the enzyme to the lysosomes of patient-derived fibroblasts: Bio-persistence and kinetics of substrate degradation
Tomas Baldwin
University College London
London, United Kingdom
The development and application of a rapid and more informative test for autoantibodies to enzyme replacement therapies in Fabry disease
*2024 Young Investigator Award Recipient
Sarah Hurt
Washington University St. Louis
Saint Louis, MO, United States
Anti-IDUA IgG alters cortical bone structure of mucopolysaccaridosis type I mice treated with intravenous enzyme replacement therapy
*2024 Young Investigator Award Recipient
Lena Marie Westermann
University Medical Center Hamburg-Eppendorf
Hamburg, Germany
Analysis of drug-specific antibody response against cerliponase alfa in CLN2 patients by applying a novel two-step assay
*2024 Young Investigator Award Recipient
Moderated Q&AVranic, Baldwin, Hurt, Westermann
2:00 PMLogan M. Glasstetter
National Institutes of Health
Bethesda, MD, United States
A novel quantitative high-throughput screening assay identifies small-molecule therapeutic candidates for Gaucher and Parkinson disease
Dietrich Matern
Mayo Clinic
Rochester, MN, United States
Newborn screening for Krabbe disease: Status quo and recommendations for improvements
Delaney E. Wilton
University of Minnesota
Minneapolis, MN, United States
Is time growth? The impact of early initiation and duration of enzyme replacement therapy on growth in Hurler syndrome
Fabiano O. Poswar
Hospital de Clínicas de Porto Alegre
Porto Alegre, Brazil
Safety and tolerability of losartan for the treatment of cardiovascular manifestations in mucopolysaccharidoses types IVA and VI
Moderated Q&AGlasstetter, Matern, Wilton, Poswar
3:00 PMIndustry Expert Theater
Poster SessionExhibit Hall
Robert J. Gorlin SymposiumBeyond the Blood Brain Barrier:
Strategies for Treating the CNS
5:15 PMJeanine R. Jarnes
University of Minnesota
Minneapolis, MN,
United States
5:17 PMRobert G. Thorne
Denali Therapeutics
5:20 PMElsa G. Shapiro
University of Minnesota
Minneapolis, MN,
United States
Overcoming challenges in quantifying developmental change for clinical trials
5:30 PMTippi MacKenzie
University of California
San Francisco, CA,
United States
Crossing the blood-brain barrier with in utero enzyme replacement therapy for lysosomal diseases
5:40 PMGuillermo Seratti
BioMarin Pharmaceutical Inc.
Intracerebroventricular infusion strategy for the delivery of cerliponase alfa to the central nervous system
5:50 PMMario Aguiar
Venglustat and the Brain
6:00 PMSamiah Al-Zaidy
Intra-cisterna magna administration of AAV gene therapy for neurodegenerative disorders
6:10 PMMathias Schmidt
JCR Pharmaceuticals
JCR Pharmaceuticals tailored Approaches for Treating the Central Nervous System Signs and Symptoms in neuronopathic Lysosomal Diseases
6:20 PMHeather Lau
Connecting the dots: Use of early biomarkers to predict longer term functional outcomes
6:30 PMBiliana Veleva-Rotse
Amicus Therapeutics
Fabry in the CNS?
6:40 PMLaura Pisani
Intracisternal administration of investigational AAV9 gene therapies to target the central nervous system in pediatric lysosomal disorders
6:50 PMRobert G. Thorne
Denali Therapeutics
Physiologic determinants of treatment efficacy for neuropathic lysosomal storage disorders: Key considerations in going across or bypassing the blood-brain barrier
7:00 PMQ & A
7:30 PMAdjourn

Wednesday began with a keynote address from Dr. Peter Marks: Accelerating the Pace of Progress in Gene Therapy.” Following Dr. Marks’s address, the presentations shifted to Clinical Applications, including abstracts on Clinical Trials for Registration. Abstracts presented in this category had 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 also were presented. Download the WORLDSymposium 2024 program (PDF 200KB).

Clinical Applications

Co-Chairs: Marc Patterson, Lynda Polgreen, 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
US Food & Drug Administration (FDA)
Silver Spring, MD, United States
Keynote Address: 
Accelerating the Pace of Progress in Gene Therapy
8:00 AMRobert J. Hopkin
Cincinnati Children’s Hospital Medical Center
Cincinnati, OH, United States
Isaralgagene civaparvovec (ST-920) gene therapy in adults with Fabry disease: Updated results from an ongoing phase 1/2 study (STAAR)
Simon Jones
St. Mary’s Hospital
Manchester, United Kingdom
Clinical outcomes and sustained biochemical engraftment following ex-vivo autologous stem cell gene therapy for mucopolysaccharidosis type IIIA
Francesca Fumagalli
IRCCS San Raffaele Hospital
Milan, Italy
Atidarsagene autotemcel (autologous hematopoietic stem cell gene therapy) preserves cognitive and motor development in early-onset metachromatic leukodystrophy with up to 12 years follow-up
Paul Harmatz
UCSF Benioff Children’s Hospital
Oakland, CA, United States
CAMPSIITE phase I/II/III: An interim clinical study update of RGX-121, an investigational gene therapy for the treatment of neuronopathic mucopolysaccharidosis type II (MPS II)
Moderated Q&AHopkin, Jones, Fumagalli, Harmatz
9:00 AMAngela Schulz
University Medical Center Hamburg-Eppendorf
Hamburg, Germany
Cerliponase alfa for the treatment of CLN2 disease in a patient cohort including children under 3 years of age
Joseph Muenzer
University of North Carolina Chapel Hill School of Medicine
Chapel Hill, NC, United States
Interim analysis of a phase 1/2 study of weekly intravenous DNL310 (brain-penetrant enzyme replacement therapy) in mucopolysaccharidosis type II
Yoshikatsu Eto
Institute of Neurological Disease
Kawasaki City, Japan
Integrated long-term efficacy and safety data on enzyme replacement therapy with pabinafusp alfa for neuronopathic mucopolysaccharidosis type II (MPS II): Updated clinical data from Japan and Brazil
Nathalie Guffon
Hôpital Femme Mère Enfant
Lyon, France
Long‑term efficacy of velmanase alfa treatment in patients with alpha‑mannosidosis: Pooled data from two extension studies (up to 12 years of therapy)
Moderated Q&ASchulz, Muenzer, Eto, Guffon
10:00 AMBreak & Exhibits
10:30 AMArmaan Saith
Yale University School of Medicine
New Haven, CT, USA
Digenic disorders in patients with Gaucher disease: Implications for clinical management and study of modifier genes
Arunabha Ghosh
St. Mary’s Hospital
Manchester, United Kingdom
Safety and preliminary efficacy of LYS-GM101 gene therapy in patients with GM1 gangliosidosis: Results of a phase I/II open-label clinical trial
Precilla D’Souza
National Human Genome Research Institute, National Institutes of Health
Bethesda, MD, United States
Intravenous delivery of AAV9-GLB1 gene therapy for GM1 gangliosidosis: An interim analysis
Carolina Fischinger Moura de Souza
Hospital de Clínicas de Porto Alegre
Porto Alegre, Brazil
Interim results from the first-in-human intracisternal dosing of RGX-181 investigational AAV9 gene therapy in a child with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2)
Moderated Q&AHughes, Ghosh, D’Souza, Moura de Souza
11:30 AMBreak, Exhibits & Satellite Symposia
1:00 PMErin Huggins
Duke University
Durham, NC, United States
Experience with enzyme replacement therapy in children with late-onset Pompe disease diagnosed via newborn screening in the United States
Suresh Vijay
Birmingham Children’s Hospital
Birmingham, United Kingdom
Survival achieved in infants with rapidly progressive LAL-D via sebelipase alfa ERT: Results from the International LAL-D Registry
Roberto Giugliani
Federal University of Rio Grande do Sul
Porto Alegre, Brazil
Efficacy and safety data (52-week) from a phase 1/2 trial and extension study of JR-171 (lepunafusp alfa) used in enzyme replacement therapy for patients with MPS I
Motomichi Kosuga
National Center for Child Health and Development
Tokyo, Japan
Efficacy and safety of combination of HSCT & ICV ERT for neuropathic mucopolysaccharidosis type II
Moderated Q&AHuggins, Vijay, Giugliani, Kosuga
2:00 PMManisha Balwani
Icahn School of Medicine at Mount Sinai
New York, NY, United States
Age-specific risk of Parkinson disease and Parkinsonian syndrome in patients with Gaucher disease type 1: Real-world evidence from the International Collaborative Gaucher Group Gaucher Registry
Caroline Aimee Hastings
UCSF Benioff Children’s Hospital Oakland
Oakland, CA, United States
Transport®NPC: open phase 3 global trial of intravenous hydroxy-propyl-beta-cyclodextrin in patients with Niemann-Pick disease type C1 (NPC1)
Troy Lund
University of Minnesota
Minneapolis, MN, United States
Changes in CSF GAG after intravenous enzyme replacement therapy
Antonio Pisani
University Federico II
Naples, Italy
Clinical outcomes in patients switching from agalsidase beta to migalastat: A Fabry Registry analysis
Moderated Q&ABalwani, Hastings, Lund, Pisani
3:00 PMIndustry Expert Theater
Poster SessionExhibit Hall
5:15 PMSatellite Symposia

The fourth research day of the meeting began with the New Treatment Award. Then, for the fifth year, the Contemporary Forum allowed for presentation of scientific abstracts — Basic, Translational, and Clinical — submitted by industry first-author researchers. Although the first three days of WORLDSymposium were accredited and approved for CE credit, Commercial Interests were not eligible for ACCME accreditation. The Contemporary Forum allows commercial interests to present their work to the WORLDSymposium audience, in this non-CE 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 2024 program (PDF 200KB).

Contemporary Forum

Co-Chairs: PJ Brooks, Nishitha Pillai, Uma Ramaswami

6:15 AMSatellite Symposia
7:30 AMChester B. Whitley
University of Minnesota
Minneapolis, MN, United States
Welcome and New Treatment Awards
8:00 AMChristina Ohnsman
Rockville, MD, United States
RGX-381: Interim results from the first-in-human clinical trial of an investigational gene therapy for the treatment of ocular manifestations of CLN2 Batten disease
Shyam Ramachandran
Waltham, MA, United States
AAV-ARSA mediated gene replacement for the treatment of metachromatic leukodystrophy
Kathleen E. Meyer
Sangamo Therapeutics
Brisbane, CA, United States
A 3-month gene therapy single-dose IV administration pharmacology and safety study with ST-920 (isaralgagene civaparvovec) for Fabry disease in mice
Michael R. DiGruccio
M6P Therapeutics
St. Louis, MO, United States
Hyperactive GlcNAc-1-Phosphotransferase (S1S3 PTase) dramatically increases M6P levels on lysosomal enzymes for substantially improved receptor binding and cellular uptake
Moderated Q&AOhnsman, Ramachandran, Meyer, DiGruccio
9:00 AMDongkyu Jin
Novel Pharma Inc
Seoul, Republic of Korea
A phase III clinical trial of GC1111 as an enzyme replacement therapy in previously untreated mucopolysaccharidosis type II (Hunter syndrome) patients: A double-blind, randomized, active-controlled (part 1) and open-labeled, historical placebo-controlled (part 2) study
Franklin Johnson
Amicus Therapeutics, Inc.
Princeton, NJ, United States
Trial in progress: An open-label study (AT1001-025) to evaluate the safety and pharmacokinetics of migalastat in patients with Fabry disease and amenable GLA variants and severe renal impairment or end-stage renal disease treated with hemodialysis
Taylor Fields
Oxford, United Kingdom
Results of a phase III, randomized, placebo-controlled crossover trial with N-acetyl-L-leucine for Niemann-Pick disease type C
Tarekegn Gerberhiwot
University of Birmingham
Birmingham, United Kingdom
Investigating the role of miglustat in the management of a patient with Tangier disease: An n-of-1 study with alternating periods of intervention and control
Moderated Q&AJin, Johnson, Fields, Gerberhiwot
10:00 AMBreak & Exhibits
10:30 AMStuart Gaffney
Chiesi Global Rare Diseases
Glasgow, United Kingdom
Medical education needs to improve diagnosis of Fabry disease in the UK
Ashley Volz
BioMarin Pharmaceutical Inc.
Novato, CA, United States
Skeletal dysplasia gene panel with integrated enzyme follow-up for the diagnosis of lysosomal disorders: MPS IVA case series
Vanessa Rangel Miller
Ultragenyx Pharmaceutical Inc.
Novato, CA, United States
Parallel biochemical and genetic testing informs a timely and accurate diagnosis of MPS VII: Findings from 5 years of sponsored testing programs
Raymond Y. Wang
Children’s Hospital of Orange County
Orange, CA, United States
First in-human, intracisternal dosing of RGX-111, an investigational AAV gene therapy, for a 21-month-old child with mucopolysaccharidosis type I (MPS I): 3.5 year follow-up
Moderated Q&AGaffney, Volz, Rangel Miller, Wang
11:30 AMBreak, Exhibits & Satellite Symposia
1:00 PMR. Scott McIvor
Immusoft Corporation
Seattle, WA, United States
First-in-human clinical trial of genetically engineered B cells: Application to the treatment of mucopolysaccharidosis type I
Shababa T. Masoud
Denali Therapeutics
South San Francisco, CA, United States
ETV:SGSH, a brain-penetrant enzyme transport vehicle for SGSH, improves lysosomal and microglial morphology, degeneration and cognitive behavior in MPS IIIA mice
Atsushi Imakiire
JCR Pharmaceuticals Co., Ltd.
Kobe, Japan
Recovery of retinal function in MPS II mice by treatment with pabinafusp alfa
Monika Musial-Siwek
Be Biopharma
Cambridge, MA, United States
Development of an ex vivo precision gene engineered B cell medicine that produces highly active and sustained levels of acid sphingomyelinase for the treatment of Neimann-Pick disease
Moderated Q&AMcIvor, Masoud, Imakiire, Musial-Siwek
2:00 PMDustin Armstrong
Parasail LLC
Quincy, MA, United States
A clinical candidate (VAL-1221) capable of treating multiple glycogen storage diseases including Lafora and other neurological polyglucosan disorders
Arjan van der Flier
Cambridge, MA, United States
Anti-human-TfR-GAA efficiently clears CNS and muscle glycogen in a translatable hTfR-KI/Pompe disease mouse model
Christian Argueta
Takeda Pharmaceuticals Americas, Inc.
Cambridge, MA, United States
Baseline levels of neurofilament light chain in the cerebrospinal fluid correlate with clinical outcomes in patients with MPS II from a phase 2/3 clinical trial (NCT02055118) and extension study (NCT02412787) of intrathecal idursulfase
Michael H. Gelb
University of Washington
Seattle, WA, United States
Second-tier glycosaminoglycan analysis in dried blood spots by the endogenous non-reducing end method provides the best approach for reducing false positives in newborn screening of all sub-types of mucopolysaccharidoses
Moderated Q&AArmstrong, van der Flier, Argueta, Gelb
3:00 PMIndustry Expert Theater
Poster SessionExhibit Hall
5:15 PMSatellite Symposia

Toward bringing the most recent research to the platform of WORLDSymposium 2024, after the late-breaking abstract submissions closed on December 1, 2023, selected late-breaking abstracts were 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 were reviewed and scored, and the top-scoring abstracts were selected for presentation during the 2024 meeting. Download the WORLDSymposium 2024 program (PDF 200KB).

Late-Breaking Science

Co-Chairs: Rebecca Ahrens-Nicklas, Elizabeth Braunlin, Roberto Giugliani

8:00 AMKrystyna Rytel
National Institutes of Health
Bethesda, MD, United States
Multi-omic analysis of iPSC-derived neurons from pairs of siblings with Gaucher disease discordant for Parkinson disease
Beatriz Guzman
Gain Therapeutics
Lugano, Switzerland
GT-02287, a clinical stage GCase enhancer, displays neuroprotection and restores motor function in preclinical models of Parkinson disease following delayed administration
Ewa Ziólkowska
Washington University School of Medicine in St. Louis
St. Louis, MO, United States
Gene therapy treats the neuromuscular consequences of CLN3 deficiency in mice
Xiangli Zhao
Yale University School of Medicine
New Haven, CT, United States
Blockage of C5a/C5aR1 signaling neutralizes the aggravating effects of progranulin deficiency in Gaucher disease
Moderated Q&ARytel, Guzman, Ziólkowska, Zhao
9:00 AMMark Sands
Washington University School of Medicine
St. Louis, MO, United States
Haploinsufficiency of lysosomal enzymes and Alzheimer’s disease
Shunji Tomatsu
Nemours Children’s Health
Wilmington, DE, United States
Preclinical studies of AAV vectors with tissue-specific, tandem, and ubiquitous promoters for mucopolysaccharidosis type IVA mice
John Mitchell
McGill University Health Centre
Montreal, QC, Canada
Co-developing The Canadian MPS Registry: A longitudinal rare disease patient registry
Petra Oliva
Vienna, Austria
Results of prospective newborn screening for metachromatic leukodystrophy in Germany and Austria
Moderated Q&ASands, Tomatsu, Mitchell, Oliva
10:00 AMBreak
10:15 AMHeather Lau
Ultragenyx Pharmaceutical Inc
Novato, CA, United States
Reduction of heparan sulfate (HS) exposure in cerebrospinal fluid (CSF) correlates with improved long-term cognitive function in patients with mucopolysaccharidosis type IIIA (MPS IIIA) following treatment with UX111 gene therapy
Maria Escolar
Forge Biologics
Grove City, OH, United States
Reklaim, a novel phase IB clinical trial of FBX101 (AAVrh10.galc) intravenously administered after UCBT for the treatment of infantile Krabbe disease
Mark Thomas
Royal Perth Hospital
Perth, Australia
Phase 1/2 clinical trial evaluating 4D-310 in adults with Fabry disease cardiomyopathy: Interim analysis of cardiac and safety outcomes in patients with 10-32 months of follow-up
Maria Acosta
National Human Genome Research Institute
Bethesda, MD, United States
Gains in neuronal tracks in GM1 gangliosidosis patients following intravenous gene therapy. Differential tractography a robust outcome measure for neurodegenerative disease
Moderated Q&ALau, Escolar, Thomas, Acosta
11:15 AMWORLDSymposium 2024 Adjourns