Emerging Trends (Monday 8:00-11:30 AM); Basic and Bench Science (Monday 1:00-4:30 PM).
Following Emerging Trends in the morning and the Young Investigator Awards, presentations in the afternoon session discussed innovations in technology and how they can be applied to early diagnosis for lysosomal conditions, progress in gene therapy, and exploitation of differences at the cellular level that may indicate early disease state. Download the WORLDSymposium 2020 program (PDF 150KB).

8:00Pre-Conference SymposiumEmerging Trends: State-of-the-Art for Experts
(Registration required)
11:30Lunch – On Own 

Basic Science I: Disease Mechanisms, Pathology, and Biomarkers of Lysosomal Diseases

Co-Chairs: Jill A. Morris & Danilo A. Tagle

1:00Chester B. Whitley
University of Minnesota
Minneapolis, MN, United States
Welcome & Announcements
Presentation of 2020 Young Investigator Award
1:15Soumeya Bekri
Rouen University Hospital
Rouen, France
Predictive biological patterns in Fabry disease revealed by integrative omics machine learning analysis
1:30Anastasia G. Henry
Denali Therapeutics
South San Francisco, CA, United States
Brain delivery and efficacy of an intravenously-administered lysosomal enzyme using a blood-brain barrier transport vehicle
1:45Petra Oliva
ARCHIMEDlife
Vienna, Austria
Differential diagnosis of Niemann-Pick disease types A and B in cases of suspected Gaucher disease
2:00Shaun C. Bolton
University Hospital Birmingham NHS Foundation Trust
Birmingham, United Kingdom
International Niemann-Pick Disease Registry (INPDR): The characteristics of ASMD and NPC patients
2:15Ibane Abasolo
Vall d’Hebron Institute of Research
Barcelona, Spain
Extracellular vesicles increase the enzymatic activity of lysosomal proteins and improve the efficacy of enzyme replacement therapy in Fabry disease
2:30Behzad Najafian
University of Washington
Seattle, WA, United States
Podocyte globotriaosylceramide (GL-3) content in female adult patients with Fabry disease and amenable mutations reduces following 6 months of treatment with migalastat
2:45Break 
3:15Weihua Tian
University of Copenhagen
Copenhagen, Denmark
Long-acting glyco-design (LAGD) for improved kinetics and distribution of α-galactosidase A
3:30Poulomee Bose
Centre Hospitalier Universitaire Sainte-Justine (CHU St. Justine)
Montreal, QC, Canada
Early synaptic dysfunction in MPS IIIC
3:45Takumi Era
IMEG, Kumamto University
Kumamoto, Japan
Presynaptic dysfunction in neurons derived from Tay-Sachs-iPSCs
4:00Sarah Kim
University of Minnesota
Minneapolis, MN, United States
Quantification of cerebrospinal fluid chitotriosidase in a clinical laboratory is validated for use in diagnosis and clinical trials
4:15Mohammad A. Hossain
Advanced Clinical Research Centre
Kawasaki, Kanagawa, Japan
DNA methylation study of GLA gene and its association with autophagy and clinical severity of heterozygous Fabry disease females
4:30Poster Reception in the Exhibit Hall 

Basic and Bench Science (Tuesday 7:30-11:30 AM). Basic and bench science presentations continued on Tuesday morning after the presentation of the Roscoe O. Brady Award for Innovation and Accomplishment, and featured award recipient presentation. Translational Research (Tuesday 1:00-4:30 PM). Presentations in these sessions turn to the challenge of moving laboratory discoveries to therapy, the important hurdles of translational research. Some broad topics of discussion included modulation of CNS affects of disease, how to increase the efficacy of therapeutic modalities, and genotype/phenotype correlations. Download the WORLDSymposium 2020 program (PDF 150KB).

Basic Science II: Developing Therapeutic Approaches in the Laboratory

Co-Chairs: Brian Bigger & Sarah Kim

6:15Satellite Symposia 
7:30Chester B. Whitley
University of Minnesota
Minneapolis, MN, United States
Welcome & Presentation of 2020 Roscoe O. Brady Award for Innovation and Accomplishment
7:45John F. Crowley
Amicus Therapeutics, Inc.
Cranbury, NJ, United States
2020 Roscoe O. Brady Award for Innovation and Accomplishment Address: The Moral Obligation to Ensure Access to Medicines for All Patients in Need
8:15Jeffrey Y. Huang
Children’s Hospital of Orange County
Orange, CA, United States
Longitudinal assessment and immune response to recombinant GAA in CRISPR-Cas9 generated Pompe disease knock-in mice
8:30Maria Dolores Ledesma
Centro Biologia Molecular Severo Ochoa
Madrid, Spain
Inhibition of fatty acid amide hydrolase prevents pathology in a mouse model of acid sphingomyelinase deficiency by rescuing downregulated endocannabinoid signalling
8:45Rebecca C. Ahrens-Nicklas
The Children’s Hospital of Philadelphia
Philadelphia, PA, United States
Efficacy of cell-type specific rescue in a new mouse model of CLN3 disease
9:00Vera Niederkofler
QPS Austria GmbH
Grambach, Austria
Neuroinflammation in mouse models of two different lysosomal diseases
9:15Kimmo Lehtimäki
Charles River Discovery
Kuopio, Finland
Longitudinal characterization of the Cln8mnd-/- mouse model of CLN8 Batten disease fine motor performance, retinal degeneration, brain pathology, and metabolic changes
9:30Lalitha Belur
University of Minnesota
Minneapolis, MN, United States
Systemic high-level IDUA enzyme activity with correction of neurologic deficit in mucopolysaccharidosis type I mice by ex vivo lentiviral transduction of hematopoietic stem cells
9:45Break & Exhibits 
10:15Dao Pan
Cincinnati Children’s Hospital Medical Center
Cincinnati, OH, United States
miR-143 regulates lysosomal enzyme transport across blood-brain barrier and improves CNS treatment for Hurler syndrome
10:30Natalia Gomez-Ospina
Stanford University
Stanford, CA, United States
Monocyte lineage-specific glucocerebrosidase expression in human hematopoietic stem cells: A universal genome editing strategy for Gaucher disease
10:45Malte Lenders
University Hospital Muenster
Muenster, Germany
Neutralizing anti-drug antibodies inhibit endothelial enzyme uptake and activity in Fabry disease
11:00Zully Pulido
Pontificia Universidad Javeriana
Bogotá D.C., Colombia
Recombinant hexosaminidases conjugated to magnetite nanoparticles: Alternative therapeutic treatment routes in GM2 fibroblasts
11:15Elena V. Batrakova
University of North Carolina
Durham, NC, United States
Extracellular vesicles as drug delivery vehicles for lysosomal enzyme TPP1 to treat Batten disease
11:30Lunch – On Own or Satellite SymposiaExhibit hall is open
11:45Satellite Symposia 

Translational Research I

Co-Chairs: Joseph J. Orsini & Amy Gaviglio

1:00Brian Kevany
Abeona Therapeutics
Cleveland, OH, United States
A novel AAV capsid with improved tropism to heart, kidney and PNS for treatment of Fabry disease
1:15Li Ou
University of Minnesota
Minneapolis, MN, United States
Liver-targeting gene editing achieves significant neurological benefits in MPS I mice
1:30Scott Kerns
Abeona Therapeutics
Cleveland, OH, United States
Combination AAV delivery to target vision loss and CNS manifestations in CLN3 disease
1:45Halil Dundar
Gazi University Faculty of Medicine
Ankara, Turkey
Triamterene-induced suppression of R227X premature termination codon in Fabry disease
2:00Marisa Eve Pulcrano
University of California, San Francisco
San Francisco, CA, United States
Translating a novel fetal therapy for lysosomal diseases into clinical care: The race for approval to treat one patient with mucopolysaccharidosis type VII
2:15Paul J. Orchard
University of Minnesota
Minneapolis, MN, United States
High dose hematopoietic stem cell transplantation leads to rapid hematopoietic and microglial recovery and disease correction in a mouse model of Hurler syndrome
2:30Ari Zimran
Shaare Zedek Medical Center
Jerusalem, Israel
Real life data on the safety and efficacy of ambroxol for patients with Gaucher disease or GBA-related Parkinson disease
2:45Break & Exhibits 
3:15Michael H. Gelb
University of Washington
Seattle, WA, United States
A universal newborn and diagnostic screening platform for lysosomal diseases and beyond
3:30Melissa Wasserstein
Children’s Hospital at Montefiore
Bronx, NY, United States
“ScreenPlus”: A comprehensive, dynamic, multi-disorder newborn screening pilot program
3:45Ankit K. Desai
Duke University
Durham, NC, United States
Benefits of prophylactic short-course immunomodulation in patients with infantile Pompe disease: Demonstration of long-term safety and efficacy in a large cohort
4:00Dominique P. Germain
University of Versailles–
St. Quentin en Yvelines (UVSQ)
Montigny, France
The benefits, challenges and regional differences of family screening in rare genetic diseases: Lessons from Fabry disease
4:15Dau-Ming Niu
Taipei Veterans General Hospital
Taipei, Taiwan
Early detection of the irreversible cardiac damages in the adults with late onset Fabry disease in a large cohort study via newborn screening
4:30Poster Reception in the Exhibit Hall 
6:30Satellite Symposia 

Translational Research (Wednesday 7:30-11:30 AM). Presentations in these sessions turned to the challenge of moving laboratory discoveries to therapy, the important hurdles of translational research. Some broad topics of discussion included modulation of CNS affects of disease, how to increase the efficacy of therapeutic modalities, and genotype/phenotype correlations. Clinical Trials for Registration and Clinical Outcomes (Wednesday 1:00-4:30 PM). These sessions were committed to presentations of results from clinical trials, in most cases, the actual application of new agents in humans affected by these conditions. These sessions included presentations related to re-thinking the definition of biomarkers for lysosomal disease. Download the WORLDSymposium 2020 program (PDF 150KB).

Translational Research II

Co-Chairs: Philip J. Brooks & Ellen Sidransky

6:15Satellite Symposia 
7:30Chester B. Whitley
University of Minnesota
Minneapolis, MN, United States
Welcome & 2020 Patient Advocate Leader Announcement and Presentation to Cara O’Neill
7:45Chester B. Whitley
University of Minnesota
Minneapolis, MN, United States
Keynote Address: Navigating Clinical Trials
8:15Nicholas A. Bascou
University of Pittsburgh Medical Center (UPMC) Children’s Hospital of Pittsburgh
Pittsburgh, PA, United States
A prospective natural history study of metachromatic leukodystrophy: A 20 year study
8:30Derralynn A. Hughes
University College London
London, United Kingdom
First-in-human study of a liver-directed AAV gene therapy (FLT190) in Fabry disease
8:45Margaret McGovern
Stony Brook School of Medicine
Stony Brook, NY, United States
Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: Eleven years of observation
9:00Donna L. Bernstein
Mount Sinai School of Medicine
New York, NY, United States
Lysosomal acid lipase deficiency and hematologic cancer predisposition
9:15Jane Louise Kinsella
Royal Manchester Children’s Hospital
Manchester, United Kingdom
Case report of the first patient treated with ex-vivo autologous haematopoietic stem cell gene therapy transplant in mucopolysaccharidosis type IIIA
9:30Fulvio Mavilio
Audentes Therapeutics
San Francisco, CA, United States
Pre-clinical safety and efficacy findings of AT845, a novel gene replacement therapy for Pompe disease targeting skeletal muscle and heart
9:45Break & Exhibits 
10:15George Karkashadze
Scientific Research Institute of Pediatrics and Child Health CCH RAoS
Moscow, Russian Federation
Abnormalities in the cerebral cortex in Gaucher disease type 1: Findings from the ENIGMA storage disease working group
10:30Erik A. Lykken
University of Texas (UT) Southwestern Medical Center
Dallas, TX, United States
Combination intrathecal and intravenous gene therapy reveals a dominant role for treatment age in determining survival and behavioral outcomes in the mouse model of infantile neuronal ceroid lipofuscinosis
10:45Jacinthe Gingras
Homology Medicines
Bedford, MA, United States
HMI-202: Investigational gene therapy for treatment of metachromatic leukodystrophy (MLD)
11:00Umut Cagin
Genethon
Évry, France
Liver expression of secretable GAA rescues advanced Pompe disease at the biochemical, functional, and transcriptional level in Gaa-/- mice
11:15Carlos J. Miranda
Freeline Therapeutics
Stevenage, United Kingdom
One-off liver directed AAV gene therapy achieves long term uptake of acid beta-glucocerebrosidase by macrophages of affected tissues in Gaucher disease
11:30Lunch – On Own or Satellite SymposiaExhibit hall is open
11:45Satellite Symposia 

Clinical Trials I: Clinical Trials for Registration

Co-Chairs: Stephen C. Groft & Tiina K. Urv

1:00John Mitchell
Montreal Children’s Hospital
Montreal, QC, Canada
Farber disease (acid ceramidase deficiency) natural history study: Prospective and retrospective clinical data
1:15Manisha Balwani
Icahn School of Medicine at Mount Sinai Hospital
New York, NY, United States
Clinical manifestations of lysosomal acid lipase deficiency (LAL-D): The international LAL-D Registry
1:30Christoph Schwering
University Medical Center Hamburg- Eppendorf
Hamburg, Germany
Development of the “Hamburg best practice guidelines for ICV-enzyme replacement therapy (ERT) in CLN2 disease” based on 5 years treatment experience in 48 patients
1:45George Diaz
Icahn School of Medicine at Mount Sinai
New York, NY, United States
Preliminary data from first clinical trial of enzyme replacement therapy with olipudase alfa in pediatric patients with chronic visceral and neurovisceral acid sphingomyelinase deficiency
2:00Nuthana Prathivadi Bhayankaram
Royal Manchester Children’s Hospital
Manchester, United Kingdom
Umbilical cord blood transplant is the preferred stem cell source in children with MPS IH (Hurler syndrome) undergoing hematopoietic stem cell transplantation
2:15Kevin M. Flanigan
Nationwide Children’s Hospital
Columbus, OH, United States
Interim results of Transpher A, a multicenter, single-dose, phase 1/2 clinical trial of ABO-102 gene therapy for Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA)
2:30Frits Wijburg
Amsterdam UMC
Amsterdam, Netherlands
Phase 2-3 gene therapy trial using adeno-associated virus vector for patients with mucopolysaccharidosis type IIIA
2:45Break & Exhibits 
3:15Kim L. McBride
Nationwide Children’s Hospital
Columbus, OH, United States
Safety, tolerability and preliminary evidence of biopotency in Transpher B, a multicenter, single-dose, phase 1/2 clinical trial of ABO-101 gene therapy for Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB)
3:30Raymond Y. Wang
Children’s Hospital of Orange County (CHOC) Children’s Specialists
Orange, CA, United States
Long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis type VII
3:45Julia B. Hennermann
University Medical Center Mainz
Mainz, Germany
Puberty, fertility and pregnancy in patients with mucopolysaccharidosis and mucolipidosis: A multicentre cross-sectional study
4:00Torayuki Okuyama
National Center for Child Health and Development
Tokyo, Japan
Therapy for MPS II with an intravenous blood-brain barrier-crossing enzyme (JR-141): 26-week results from a phase 3 study in Japan suggesting significant efficacy against central nervous system and systemic symptoms
4:15Marc Patterson
Mayo Clinic
Rochester, MN, United States
Efficacy and safety of arimoclomol in patients with Niemann-Pick disease type C: Results from a double-blind, randomized placebo-controlled trial with a novel treatment
4:30Poster Reception in the Exhibit Hall 
6:30Satellite Symposia 

Clinical Trials for Registration and Clinical Outcomes (Thursday 7:30-11:30 AM). These sessions were committed to presentations of results from clinical trials, in most cases, the actual application of new agents in humans affected by these conditions. These sessions included presentations related to re-thinking the definition of biomarkers for lysosomal disease. NEW: Industry Contemporary Forum (Non-CME) (Thursday, 1:00-4:30 PM). These non-CME platform presentations were specifically for corporate first authors and provided attendees with cutting-edge industry research, data and developments. Industry authors who submitted an abstract prior to the October 1, 2019 deadline and selected the abstract category “Contemporary Forum” were included in the abstract review and selection process for this session. (Abstracts from all other categories may be included here if the first author is from industry.) Download the WORLDSymposium 2020 program (PDF 150KB).

Clinical Trials II: Clinical Outcomes

Co-Chairs: Yoshikatsu Eto & Priya S. Kishnani

6:15Satellite Symposia 
7:25Chester B. Whitley
University of Minnesota
Minneapolis, MN, United States
Welcome
7:30Peter Marks
Center for Biologics Evaluation and Research
U.S. Food and Drug Administration
Silver Spring, MD, United States
Keynote Address: The Shift from Personalized to Individualized Therapies
8:00Samuel Gröschel
University Children’s Hospital
Tübingen, Germany
Effect of intrathecal recombinant human arylsulfatase A enzyme replacement therapy on structural brain MRI in children with metachromatic leukodystrophy
8:15Francesca Fumagalli
San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), IRCCS San Raffaele Scientific Institute
Milano, Italy
Lentiviral hematopoietic stem and progenitor cell gene therapy (HSPC-GT) for metachromatic leukodystrophy (MLD): Clinical outcomes from 33 patients
8:30Emily de los Reyes
Nationwide Children’s Hospital
Columbus, OH
Single-dose AAV9-CLN6 gene transfer stabilizes motor and language function in CLN6-type Batten disease: Interim results from the first clinical gene therapy trial
8:45David G. Warnock
University of Alabama
Birmingham, CA, United States
Pegunigalsidase alfa, a novel PEGylated ERT, evaluated in Fabry disease patients with progressing kidney disease, RCT study design
9:00Christoph Wanner
University of Würzburg
Würzburg, Germany
Rationale and design of the MODIFY study: A phase 3 multicenter, double-blind, randomized, placebo-controlled, parallel-group study to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects
9:15Raphael Schiffmann
Baylor Research Institute
Dallas, TX, United States
Venglustat combined with imiglucerase positively affects neurological features and brain connectivity in adults with Gaucher disease type 3
9:30Pramod K. Mistry
Yale University School of Medicine
New Haven, CT, United States
Individual patient responses to eliglustat in treatment-naïve adults with Gaucher disease type 1: Final data from the phase 3 ENGAGE trial
9:45Break 
10:15David Kronn
New York Medical College
Valhalla, NY, United States
Mini-COMET study: Safety, immunogenicity, and preliminary efficacy for repeat avalglucosidase alfa dosing in patients with infantile-onset Pompe disease (IOPD) who were previously treated with alglucosidase alfa and demonstrated clinical decline
10:30Mazen M. Dimachkie
University of Kansas Medical Center
Kansas City, KS, United States
NEO1 and NEO-EXT studies: Long-term safety and exploratory efficacy of repeat avalglucosidase alfa dosing for 5.5 years in late-onset Pompe disease patients
10:45Stephanie Austin
Duke University
Durham, NC, United States
Extended treatment with VAL-1221, a novel protein targeting cytoplasmic glycogen, in patients with late-onset Pompe disease
11:00Paul Harmatz
University of California – San Francisco (UCSF) Benioff Children’s Hospital
Oakland, CA, United States
A new randomized placebo controlled study to establish the safety and efficacy of velmanase alfa (human recombinant alpha-mannosidase) enzyme replacement therapy for the treatment of alpha-mannosidosis
11:15Angela Schulz
University Medical Center Hamburg-Eppendorf
Hamburg, Germany
Cerliponase alfa for the treatment of CLN2 disease in an expanded patient cohort including children younger than three years: Interim results from an ongoing clinical study
11:30Lunch – On Own or Satellite Symposia 
11:45Satellite Symposia 

Contemporary Forum

Co-Chairs: R. Scott McIvor & Anne R. Pariser

The following session is not available for CME/CE accreditation; CEU credits for GCs may apply.

1:00Dwight Koeberl
Duke University School of Medicine
Durham, NC, United States
A phase 1 study of gene therapy with ACTUS-101 in late-onset Pompe disease
1:15Sean M. Armour
Spark Therapeutics, Inc.
Philadelphia, PA, United States
Preclinical development of SPK-3006, an investigational liver-directed AAV gene therapy for the treatment of Pompe disease
1:30Alissa Brandes
Prevail Therapeutics
New York, NY, United States
Gene therapy PR006 increased progranulin levels and improved lysosomal related phenotypes in model systems
1:45Birgitte Volck
AVROBIO, Inc.
Cambridge, MA, United States
Gb3 substrate in endothelial cells of renal peritubular capillaries was reduced in a previously untreated classic Fabry male patient treated with AVR-RD-01 investigational lentiviral gene therapy
2:00Lin Liu
M6P Therapeutics
St. Louis, MO, United States
A new platform technology for next generation lysosomal enzyme replacement and potential gene therapy in the treatment of lysosomal diseases
2:15Manolo Bellotto
Gain Therapeutics
Lugano, Switzerland
Brain penetrant structurally targeted allosteric regulators for treating GLB1-related disorders
2:30Julie C. Ullman
Denali Therapeutics
South San Francisco, CA, United States
Novel FACS based method demonstrates CNS cell-type distribution and efficacy of a BBB penetrant ERT in a mouse model of MPS II
2:45Break 
3:15William Casey Hallows
Codexis
Redwood City, CA, United States
Engineering α-galactosidase A (GLA) to improve protein stability, efficacy and reduced immune response for the treatment of Fabry disease
3:30Nicholas France
E-Scape Bio, Inc.
San Francisco, CA, United States
Sphingosine-1-phosphate receptor type 5 (S1P5) agonism: A potential new mechanism for the treatment of neuronopathic features of Niemann-Pick disease type C and neurodegenerative sphingolipidoses
3:45Linda Ingemann
Orphazyme A/S
Copenhagen N, Denmark
Rescue of NPC1 protein and effect on biomarkers by arimoclomol treatment in Niemann-Pick disease type C
4:00Emanuela Izzo
BioMarin Pharmaceutical Inc.
Novato, CA, United States
Utility of gene panel testing in children with seizure onset after 2 years of age: Results from a European and Middle Eastern epilepsy genetic testing program
4:15R. Scott McIvor
Immusoft Corporation
Seattle, WA, United States
Iduronidase-transposed human B lymphocytes correct enzyme deficiency and glycosaminoglycan storage disease in immunodeficient MPS I mice
4:30-5:30Networking Reception 
5:00-7:00Lysosomal Disease Network (LDN) Annual Meeting 

On Sunday afternoon, the Robert J. Gorlin Symposium honored 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 inaugural Robert J. Gorlin Symposium, Precision Metrics for Cognition, will focus on groundbreaking metrics to measure cognitive function in children with lysosomal diseases. Download the WORLDSymposium 2022 program (PDF 150KB).

 Robert J. Gorlin Symposium
Precision Metrics for Cognition
(Registration required)
3:00Elsa Shapiro
University of Minnesota
Portland, OR, United States
Introduction and insights
3:15Mark H. Daniel
Mark Daniel Services, LLC
Blaine, MN, United States
Growth scale values (GSVs): Theory, development, and characteristics
3:30Paul E. Williams
Pearson Clinical Assessment
Orlando, FL, United States
Advantages of GSVs in clinical trials
3:40Julie B. Eisengart
University of Minnesota
Minneapolis, MN, United States
Measuring cognitive outcomes with GSV’s in MPS I
3:50Bernice Kuca
Allievex Corporation
Boston, MA, United States
Use of GSV scores in natural history of MPS IIIB
4:00Heather Adams
University of Rochester Medical Center
Rochester, NY, United States
Use of GSVs using the Vineland in CLN3 Batten disease
4:10Patroula Smpokou
Division of Rare Diseases & Medical Genetics (DRDMG)
Office of New Drugs, CDER, FDA
Washington, DC, United States
Measuring cognitive and developmental outcomes in trials for neuronopathic lysosomal diseases
4:25Panel Discussion and Audience Q&A 
5:00Adjourn 

After the presentation of the Innovation Award, the formal scientific sessions of WORLDSymposium 2022 officially began 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 2022 program (PDF 150KB).

Basic Science

Moderators: Brian Bigger & Lalitha Belur

7:30Chester B. Whitley
University of Minnesota
Minneapolis, MN, United States
Welcome & Announcements
Presentation of 2022 Roscoe O. Brady Award for Innovation and Accomplishment to Stuart A. Kornfeld
7:35Stuart A. Kornfeld
Washington University
St. Louis, MO, United States
Dissecting the Mannose 6-Phosphate Pathway – A Key to Understanding Lysosomal Enzyme Trafficking
8:00Allisandra Rha
CHOC Children’s Research Institute
Orange, CA, United States
Prime editing corrects the c.1826dupA mutation in infantile-onset Pompe disease
 Travis Moore
Sainte-Justine Research Center
Montreal, QC, Canada
IPSC derived neurons of mucopolysaccharidosis type III patients show pronounced synaptic defects
*2022 Young Investigator Award Recipient
 Oriana Mandolfo
The University of Manchester
Manchester, United Kingdom
Systemic immune challenges exacerbate inflammation and cognitive decline in a mouse model of MPS IIIA
*2022 Young Investigator Award Recipient
 Mahsa Taherzadeh
McGill University
Montreal, QC, Canada
Expression of misfolded HGSNAT protein aggravates neurological phenotype in mucopolysaccharidosis type IIIC
*2022 Young Investigator Award Recipient
 Live Moderated Q&AAllisandra Rha, Travis Moore, Oriana Mandolfo, and Mahsa Taherzadeh
9:00Miles Smith
University of Minnesota
Minneapolis, MN, United States
Comparative effectiveness of intravenous and intrathecal AAV9.CB7.hIDS (RGX-121) in a murine model of mucopolysaccharidosis type II
 Gani Perez
NHGRI, National Institutes of Health
Bethesda, MD, United States
Behavioral and whole transcriptome analyses of a gba-haploinsufficient Parkinson murine model
 Tsui-Fen Chou
California Institute of Technology
Pasadena, CA, United States
Enzyme replacement therapy (ERT) for MPS IIID
 Marya Sabir
National Human Genome Research Institute, National Institutes of Health
Bethesda, MD, United States
A novel experimental mouse model to investigate a free sialic acid storage disorder (Salla disease)
*2022 Young Investigator Award Recipient
 Live Moderated Q&AMiles Smith, Gani Perez, Tsui-Fen Chou, and Marya Sabir
10:00Break 
10:30Elizabeth Braunlin
University of Minnesota
Minneapolis, MN, United States
Aortic dilation in murine mucopolysaccharidosis type I: A tale of two strains
 Ik Hui Kho
McGill University
Montreal, QC, Canada
Severe kidney dysfunction in the mouse model of sialidosis reveals novel role of neuraminidase 1 in reabsorption process
*2022 Young Investigator Award Recipient
 Fiona Weaver
McMaster University
Hamilton, ON, Canada
Endoplasmic reticulum stress derives neurodegeneration in the spinal cord of Sandhoff disease mice
*2022 Young Investigator Award Recipient
 Sarah Kim
University of Minnesota
Minneapolis, MN, United States
Cerebrospinal fluid chitotriosidase as a surrogate endpoint of the efficacy of the PS gene editing system in neurodegenerative lysosomal diseases
 Live Moderated Q&AElizabeth Braunlin, Ik Hui Kho, Fiona Weaver, and Sarah Kim
11:30Break and Satellite Symposia 
1:00Gisele Pino
Mayo Clinic
Rochester, MN, United States
The synergy of multiplex testing to screen for lysosomal disorders (LD)
 Xuefang Pan
CHU Ste-Justine Research Centre, Université de Montreal
Montreal, QC, Canada
Neurodegenerative role of lysosomal cathepsin B in MPS IIIC
 Francyne Kubaski
UFRGS/HCPA
Porto Alegre, Brazil
Prenatal diagnosis of mucopolysaccharidosis type VI by analysis of the amniotic fluid supernatant in the mass spectrometry era
 Sukirhini Balendran
Medical University of Vienna
Vienna, Austria
Rapid identification of IOPD and early-onset Pompe disease by biochemical enzymatic testing followed by genetic confirmation
 Live Moderated Q&AGisele Pino, Xuefang Pan, Francyne Kubaski, and Sukirhini Balendran
2:00Behzad Najafian
University of Washington
Seattle, WA, United States
Venglustat reduces globotriaosylceramide inclusions in skin arterial smooth muscle cells in treatment naive males with classic Fabry disease
 Sireesha Murala
Duke University Medical Center
Durham, NC, United States
Diffusion tensor imaging (DTI) findings in children with Pompe disease: Insights into white matter hyperintensities from a longitudinal study
*2022 Young Investigator Award Recipient
 Walla Al-Hertani
Boston Children’s Hospital
Boston, MA, United States
A 3-year pilot screening program for lysosomal disorders in the Latin America (LATAM) region using an integrated enzymatic and molecular approach
 Joseph Muenzer
University of North Carolina Chapel Hill
Chapel Hill, NC, United States
Fifteen years of the Hunter Outcome Survey (HOS): Real-world insights into the patient population living with mucopolysaccharidosis type II (MPS II)
 Live Moderated Q&ABehzad Najafian, Sireesha Murala, Walla Al-Hertani, and Joseph Muenzer
3:00Poster Session in the Exhibit Hall 
5:30Satellite Symposia 

After the presentation of the 2022 Young Investigator Awards and the Patient Advocate Leader (PAL) award, the entirety of the research presentations on Tuesday are dedicated to the Translational Research category. In 2022, 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 2022 program (PDF 150KB).

Translational Research

Moderators: PJ Brooks & Ellen Sidransky

7:30Chester B. Whitley
University of Minnesota
Minneapolis, MN, United States
2022 Patient Advocate Leader (PAL) Award Announcement and Presentation to Sue Kahn and 2022 Young Investigator Awards Announcement and Presentation
8:00Jennifer Cohen
Duke University
Durham, NC, United States
In utero enzyme replacement therapy in a fetus with infantile-onset Pompe disease
 Tahseen Mozaffar
University of California Irvine
Irvine, CA, United States
AT845 gene replacement therapy for late onset Pompe disease: Overview of clinical data from FORTIS, a phase 1/2 open-label clinical study
 Kevin Flanigan
Nationwide Children’s Hospital
Columbus, OH, United States
Interim results of Transpher A, a multicentre, single-dose, phase 1/2 clinical trial of ABO-102 investigational gene therapy for Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA)
 Tierra Bobo
University of North Carolina at Chapel Hill
Chapel Hill, NC, United States
Facilitate by-stander effects by EV-mRNA cargo in AAV gene replacement therapy for treating MPS IIIC
*2022 Young Investigator Award Recipient
 Live Moderated Q&AJennifer Cohen, Tahseen Mozaffar, Kevin Flanigan, and Tierra Bobo
9:00Maximiliano Presa
The Jackson Laboratory
Bar Harbor, ME, United States
Efficacy of a scAAV9/SUMF1 viral vector for the treatment of multiple sulfatase deficiency
 Lalitha Belur
University of Minnesota
Minneapolis, MN, United States
Treatment of cardiac, neurologic, and skeletal manifestations of murine MPS I with AAV9-IDUA: Efficacy study of vector dose and route of administration
 Stuart Ellison
University of Manchester
Manchester, United Kingdom
Enhanced transduction and immunophenotyping demonstrates preclinical safety and efficacy of haematopoietic stem cell gene therapy for mucopolysaccharidosis type II using an IDS.ApoEII brain targeted therapy
 Michael Przybilla
University of Minnesota
Minneapolis, MN, United States
Prevention of murine GM1-gangliosidosis following heterotopic insertion of Glb1 using gene editing
 Live Moderated Q&AMaximiliano Presa, Lalitha Belur, Stuart Ellison, and Michael Przybilla
10:00Break & Exhibits 
10:30Jonathan Cooper
Washington University in St Louis
St Louis, MO, United States
Amelioration of enteric nervous system defects via gene therapy in CLN1 disease mice
 Hemanth Nelvagal
Washington University in St. Louis
St. Louis, MO, United States
Efficacy of recombinant human PPT1 enzyme replacement therapy in mouse and sheep models of CLN1 disease
 Jaya Ganesh
The Icahn School of Medicine at Mount Sinai
New York, NY, United States
Preliminary results of the STAAR study, a phase I/II study of isaralgagene civaparvovec (ST-920) gene therapy in adults with Fabry disease
 Francyne Kubaski
UFRGS/HCPA
Porto Alegre, Brazil
Pilot study update: Newborn screening for lysosomal disorders in Brazil
 Live Moderated Q&AJonathan Cooper, Hemanth Nelvagal, Jaya Ganesh, and Francyne Kubaski
11:30Break, Exhibits and Satellite Symposia 
1:00Troy Lund
University of Minnesota
Minneapolis, MN, United States
Bone marrow and umbilical cord blood are equivalent stem cell sources for Hurler syndrome
 Igor Nestrasil
University of Minnesota
Minneapolis, MN, United States
Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I
 Lynda Polgreen
The Lundquist Institute at Harbor-UCLA
Torrance, CA, United States
Anthropometric and joint deficits in children with mucopolysaccharidosis despite current treatments: A 10-year multi-site longitudinal study
 Amy White
Mayo Clinic
Rochester, MN, United States
Comparison of psychosine analysis in dried blood spots and red blood cells from children with Krabbe disease
 Live Moderated Q&ATroy Lund, Igor Nestrasil, Lynda Polgreen, and Amy White
2:00Erin Huggins
Duke University
Durham, NC, United States
Early clinical phenotype of late-onset Pompe disease: Lessons learned from newborn screening
 Lisa Berry
Cincinnati Children’s Hospital Medical Center
Cincinnati, OH, United States
Newborn screening for lysosomal disorders: The Ohio experience
 Haiyan Fu
University of North Carolina at Chapel Hill
Chapel Hill, NC, United States
Transient depletion of pre-existing antibodies for efficient AAV gene delivery
 Jillian Gallagher
University of Massachusetts Medical School
Worcester, MA, United States
Sialidosis: From gene editing to gene therapy
*2022 Young Investigator Award Recipient
 Live Moderated Q&AErin Huggins, Lisa Berry, Haiyan Fu, and Jillian Gallagher
3:00Poster Session in the Exhibit Hall 
5:30Satellite Symposia 

Wednesday began with a novel keynote address by Dr. Tippi MacKenzie. Following Dr. MacKenzie’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 2022 program (PDF 150KB).

Clinical Applications

Moderators: Danilo Tagle & Lynda Polgreen

7:30Chester B. Whitley
University of Minnesota
Minneapolis, MN, United States
Welcome and Keynote Speaker Introduction
7:35Tippi MacKenzie
University of California, San Francisco
San Francisco, CA, United States
Prenatal enzyme replacement therapy for lysosomal disorders: Launching a phase I clinical trial
8:00Simon Jones
St. Mary’s Hospital
Manchester, United Kingdom
Clinical trial update: Ex-vivo autologous haematopoietic stem cell gene therapy in MPS IIIA
 Paul Harmatz
UCSF Benioff Children’s Hospital
Oakland, CA, United States
RGX-121 gene therapy for the treatment of severe mucopolysaccharidosis type II (MPS II): Interim analysis of data from the first in-human study
 Maurizio Scarpa
Regional Coordinator Centre for Rare Diseases, University Hospital of Udine
Udine, Italy
Continued improvement in pulmonary outcomes in 3 clinical trials of olipudase alfa in children and adults with chronic acid sphingomyelinase deficiency treated for 2 to 6.5 years
 Raymond Wang
CHOC Children’s Hospital
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
 Live Moderated Q&ATippi MacKenzie, Simon Jones, Paul Harmatz, Maurizio Scarpa, and Raymond Wang
9:00Roberto Giugliani
Federal University of Rio Grande do Sul
Porto Alegre, Brazil
Long term efficacy and safety of pabinafusp-alfa (JR-141) in Hunter syndrome (MPS-II): 104-week data from the clinical trials in Japan and Brazil
 Robin Lachmann
Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery
London, United Kingdom
Sustained and continued improvements in pulmonary function, hepatosplenomegaly, dyslipidemia, and disease biomarkers in 5 adults with chronic acid sphingomyelinase deficiency after 6.5 years of olipudase alfa enzyme replacement therapy
 Ian O’Connor
Medical University of South Carolina College of Medicine
Charleston, SC, United States
Incidental diagnosis of lysosomal diseases by expanded carrier screening and direct-to-consumer genetic testing
 Linda Scheffers
Erasmus MC
Rotterdam, Netherlands
Effects of enzyme replacement therapy on cardiac function and structure in classic infantile Pompe disease: Up to 22 years of follow-up
*2022 Young Investigator Award Recipient
 Live Moderated Q&ARoberto Giugliani, Robin Lachmann, Ian O’Connor, and Linda Scheffers
10:00Break & Exhibits 
10:30Yin-Hsiu Chien
National Taiwan University Hospital
Taipei, Taiwan
Immunogenicity of cipaglucosidase alfa/miglustat versus alglucosidase alfa/placebo in late-onset Pompe disease (LOPD): A phase III, randomized study (PROPEL)
 Eric Mallack
Weill Cornell Medicine
New York, NY, United States
A phase 1/2 open-label, multicenter, dose ranging and confirmatory study to assess the safety, tolerability and efficacy of PBKR03 administered to pediatric subjects with early infantile Krabbe disease (globoid cell leukodystrophy; GALax-C)
 Shaun Brothers
University of Miami Miller School of Medicine
Miami, FL, United States
Development of formulated resveratrol (micellar resveratrol) as a small molecule treatment for MPS I
 Jerry Vockley
University of Pittsburgh
Pittsburgh, PA, United States
An open-label, phase 1/2 trial of gene therapy 4D-310 in adult males with Fabry disease
 Live Moderated Q&AYin-Hsiu Chien, Eric Mallack, Shaun Brothers, and Jerry Vockley
11:30Break, Exhibits and Satellite Symposia 
1:00Cynthia Tifft
National Human Genome Research Institute
Bethesda, MD, United States
Phase 1/2 trial of AXO-AAV-GM1 (AAV9-GLB1) gene therapy for infantile- and juvenile-onset GM1 gangliosidosis
 Jeanine Jarnes
University of Minnesota
Minneapolis, MN, United States
Phase 1/2 open-label, multi-center study to assess the safety, tolerability and efficacy of a single dose of PBGM01 delivered into the cisterna magna of subjects with type 1 (early onset) and type 2a (late onset) infantile GM1 gangliosidosis
 Saima Kayani
University of Texas Southwestern Medical Center
Dallas, TX, United States
Preliminary safety data of a phase I first in-human clinical trial support the use of high dose intrathecal AAV9/CLN7 for the treatment of patients with CLN7 disease
 Stephanie Cherqui
University of California, San Diego
La Jolla, CA, United States
Hematopoietic stem cell gene therapy for cystinosis: Updated results from a phase I/II clinical trial
 Live Moderated Q&ACynthia Tifft, Jeanine Jarnes, Saima Kayani, and Stephanie Cherqui
2:00Ecenur Tuc Bengur
University of Pittsburgh Medical Center – Children’s Hospital of Pittsburgh
Pittsburgh, PA, United States
Psychosine predicts age of onset in babies with Krabbe disease
 Uma Ramaswami
Royal Free London Hospital
London, United Kingdom
Migalastat HCl 150 mg every other day is well-tolerated and efficacious in adolescent patients with Fabry disease
 Shoshana Revel-Vilk
Shaare Zedek Medical Center
Jerusalem, Israel
Markers of inflammation and alpha degranulation defect of platelets in patients with Gaucher disease
 Michal Becker-Cohen
Shaare Zedek Medical Center
Jerusalem, Israel
An 18-month report on the safety and efficacy of rapid intravenous velaglucerase alfa infusions in naïve patients with Gaucher disease
 Live Moderated Q&AEcenur Tuc Bengur, Uma Ramaswami, Shoshana Revel-Vilk, and Michal Becker-Cohen
3:00Poster Session in the Exhibit Hall 
5:30Satellite Symposia 

The fourth research day of the meeting began with the New Treatment Awards. Then, for the third 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 2022 program (PDF 150KB).

Contemporary Forum

Moderators: Uma Ramaswami & Marc Patterson

The following session is not available for CE accreditation; CE credits for GCs may apply.

7:30Chester B. Whitley
University of Minnesota
Minneapolis, MN, United States
Welcome and New Treatment Awards
8:00Anna Bakardjiev
Denali Therapeutics
South San Francisco, CA, United States
Interim 49-week results of a phase 1/2 study of intravenous DNL310 (brain-penetrant enzyme replacement therapy) in MPS II
 Jacinthe Gingras
Homology Medicines
Bedford, MA, United States
Clinical trial design for HMI-203 investigational gene therapy for mucopolysaccharidosis type II (MPS II) informed by cross-correction potential and KOL input
 Nidal Boulos
REGENXBIO
Rockville, MD, United States
Identification of a biomarker that differentiates neuronopathic forms of MPS I and MPS II
 Laura Smith
Homology Medicines
Bedford, MA, United States
Summary of nonclinical data for gene therapy developmental candidate HMI-203 for mucopolysaccharidosis type II (MPS II, or Hunter syndrome)
 Live Moderated Q&AAnna Bakardjiev, Jacinthe Gingras, Nidal Boulos, and Laura Smith
9:00Rebeca Choy
Maze Therapeutics, Inc
South San Francisco, CA, United States
In-vitro characterization of MZE001, an orally active GYS1 inhibitor to treat Pompe disease
 Maria Praggastis
Regeneron Pharmaceuticals
Tarrytown, NY, United States
BBB-targeted GAA delivered as gene therapy treats CNS and muscle in Pompe disease model mice
 Julie Ullman
Maze Therapeutics
South San Francisco, CA, United States
Substrate reduction therapy for Pompe disease: Small molecule inhibition of glycogen synthase 1 in preclinical models
 Niek van Til
AVROBIO, Inc.
Cambridge, MA, United States
Long-term hematopoietic stem cell lentiviral gene therapy rescues neuromuscular manifestations in preclinical study of Pompe disease mice
 Live Moderated Q&ARebeca Choy, Maria Praggastis, Julie Ullman, and Niek van Til
10:00Break & Exhibits 
10:30Maria Escolar
University of Pittsburgh
Pittsburgh, PA, United States
FBX-101, an intravenous AAV gene replacement therapy given after infusion of hematopoietic stem cells, extends efficacious dose ranging and corrects disease manifestations in Krabbe disease
 Russell Gotschall
M6P Therapeutics
St. Louis, MO, United States
M011: A novel highly phosphorylated β-glucocerebrosidase enzyme with broader tissue biodistribution for the treatment of Gaucher disease
 Erika Pearson
Sigilon Therapeutics
Cambridge, MA, United States
Development of a novel encapsulated non-viral cell-based, BBB-penetrant therapy for MPS I
 Francois-Xavier Frapaise
Lysogene
Neuilly-sur-Seine, France
A study of intracisternal administration of adeno-associated viral vector serotype rh.10 carrying the human β-galactosidase cDNA for the treatment of GM1 gangliosidosis: Preliminary results of the safety cohort
 Live Moderated Q&AMaria Escolar, Russell Gotschall, Erika Pearson, and Francois-Xavier Frapaise
11:30Break, Exhibits and Satellite Symposia 
1:00Christiane Hampe
Immusoft
Seattle, WA, United States
Iduronidase-transposed human B lymphocytes correct enzyme deficiency and glycosaminoglycan storage disease in immunodeficient mucopolysaccharidosis type I mice
 Andrew Hedman
M6P Therapeutics
St. Louis, MO, United States
A novel S1S3 phosphotransferase co-expression gene therapy platform for lysosomal disorders
 Elizabeth Hwang-Wong
Regeneron Pharmaceuticals
Tarrytown, NY, United States
Defining phenotype reversibility in lysosomal disease: Leveraging a COIN model in mucopolysaccharidosis type VI (MPS VI)
 Leslie Jacobsen
Neurogene Inc.
New York, NY, United States
Efficacy of gene therapy in a CLN5 sheep model using a dual route of administration supports a first-in-human clinical trial
 Live Moderated Q&AChristiane Hampe, Andrew Hedman, Elizabeth Hwang-Wong, and Leslie Jacobsen
2:00Kyle Landskroner
Azafaros
Basel, Switzerland
Characterization of AZ-3102, a novel brain-penetrant small molecule, in the Niemann-Pick disease type C mouse model
 Ralph Laufer
Lysogene
Neuilly-sur-Seine, France
AAVance gene therapy study in children with mucopolysaccharidosis type IIIA
 Mariana Loperfido
AVROBIO Inc
Cambridge, MA, United States
High-resolution cellular and molecular follow up of lysosomal disease patients treated with hematopoietic stem cell lentiviral gene therapy
 Luca Biasco
AVROBIO, Inc.
Cambridge, MA, United States
High throughput monitoring of safety, potency and stability of gene therapy cell products in lysosomal disease patients
 Live Moderated Q&AKyle Landskroner, Ralph Laufer, Mariana Loperfido, and Luca Biasco
3:00Poster Session in the Exhibit Hall 
5:30Satellite Symposia 

Toward bringing the most recent research to the platform of WORLDSymposium 2022, after the late-breaking abstract submissions closed on December 1, 2021, 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 2022 meeting. Download the WORLDSymposium 2022 program (PDF 150KB).

Late-Breaking Science

Moderators: Roberto Giugliani & Elizabeth Braunlin

The following session is not available for CE accreditation; CE credits for GCs may apply.

6:45Satellite Symposia 
8:00Su Syonmez
Orchard Therapeutics
London, United Kingdom
First-in-human phase I/II clinical trial of hematopoietic stem and progenitor cell gene therapy for Hurler syndrome: Favorable safety profile and extensive metabolic correction
 Priya Kishnani
Division of Medical Genetics, Duke University Medical Center
Durham, NC, United States
Avalglucosidase alfa improves health-related quality of life (HRQoL) in patients with late-onset Pompe disease (LOPD) vs. alglucosidase alfa: Patient-reported outcome measures (PROMs) from the phase 3 COMET trial
 Derralynn Hughes
Royal Free London NHS Foundation Trust
London, United Kingdom
Safety and efficacy of FLT190 for the treatment of patients with Fabry disease: Results from the MARVEL-1 phase 1/2 clinical trial
 David Weinstein
Passage Bio
Philadelphia, PA, United States
Safety, biomarker and preliminary efficacy results following ICM administration of PBGM01 in children with late onset infantile GM1-gangliosidosis
 Live Moderated Q&ASu Syonmez, Priya Kishnani, Derralynn Hughes, and David Weinstein
9:00Taylor Fields
IntraBio Ltd
Oxford, United Kingdom
N-acetyl-l-leucine improves symptoms and functioning in Niemann-Pick disease type C (NPC) and GM2 gangliosidosis (Tay-Sachs disease & Sandhoff disease): Results from two parallel, multi-national, rater-blinded clinical trials
 Chase Chen
National Institutes of Health
Bethesda, MD, United States
Investigation into the pathophysiology of GBA1-associated Parkinson disease using organelle-specific proteomics
 Jagdeep Walia
Kingston Health Sciences Centre and Queen’s University Kingston
Kingston, ON, Canada
AZ-3102, a novel brain-penetrant small molecule, significantly improves survival of Sandhoff disease mice
 Markus Schwarz
ARCHIMEDlife
Vienna, Austria
High-risk population screening by differential diagnosis for mucopolysaccharidoses (MPSs)
 Live Moderated Q&ATaylor Fields, Chase Chen, Jagdeep Walia, and Markus Schwarz
10:00Break 
10:15Victoria Jensen
Lacerta Therapeutics
Alachua, FL, United States
Long-term correction of mucopolysaccharidosis type IIIB disease phenotype following central nervous system administration of AAV-NAGLU
 Naresh Kumar Meena
National Institutes of Health
Bethesda, MD, United States
Liver-directed and systemic AAV gene transfer approaches for Pompe disease therapy
 Kwi Hye Kim
REGENXBIO Inc
Rockville, MD, United States
Establishment of in vitro model of CLN2 retinopathy using human induced pluripotent stem cells
 John Mitchell
Montreal Children’s Hospital
Montreal, QC, Canada
Long-term outcomes of MPS IVA patients treated with elosulfase alfa: Findings from the Morquio A Registry Study (MARS) after 6 years
 Live Moderated Q&AVictoria Jensen, Naresh Kumar Meena, Kwi Hye Kim, and John Mitchell
11:15Meeting Adjourns 

Children under the age of 18 are not permitted in WORLDSymposium Scientific Sessions or Exhibit Hall. Children may be registered as family members/accompanying persons of fully registered patient/family attendees, and must be accompanied by a registered parent or a guardian at all times in any common areas of the meeting.

The Registration Desk, located in the Convention Area of the Lobby Level of the Hilton Orlando, will be open during these times:

Tuesday, February 21, 12:00 PM - 6:00 PM
Wednesday, February 22, 6:00 AM - 5:15 PM
Thursday, February 23, 6:00 AM - 5:15 PM
Friday, February 24, 6:00 AM - 5:15 PM
Saturday, February 25, 6:00 AM - 5:15 PM
Sunday, February 26, 6:00 AM - 10:00 AM

Appropriate dress is business casual. Please dress appropriately whenever attending in person session or appearing on pre-recorded or live video for presentations or when in video meetings.

Registration and attendance at, or participation in, WORLDSymposium Scientific Sessions and other related activities, constitutes an agreement by the registrant to permit WORLDSymposium use and distribution (both now and in the future) of the registrant or attendee’s image or voice in photographs, videotapes, electronic reproductions, audiotapes of such events and activities.

Attendees may take photos or screen captures of posters ONLY if the poster author agrees. Authors who do not want their posters to be photographed or screen captured will have to indicate as such on their posters. No other photography, or audio or video recording is allowed. Attendees who photograph or record poster information for which they have not obtained permission will be asked to leave the session immediately.

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This means attendees may not take photos or video of speakers presenting or their slides. Attendees not adhering to this policy may be asked to leave the room and will be asked to delete all photos or videos already taken; additional action may be taken with repeated or egregious offenders. Attendees are also asked to be respectful of their colleagues by silencing all mobile devices before entering meeting rooms. When registering, you are required to agree that you will adhere to this policy.