WORLDSymposium 2022 Preliminary Program* on Lysosomal Diseases

On Sunday 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 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)
3:00 Elsa Shapiro
University of Minnesota
Portland, OR, United States
Introduction and insights
3:15 Mark H. Daniel
Mark Daniel Services, LLC
Blaine, MN, United States
Growth scale values (GSVs): Theory, development, and characteristics
3:30 Adam Scheller
Pearson Clinical Assessment
Orlando, FL, United States
Advantages of GSVs in clinical trials
3:40 Julie B. Eisengart
University of Minnesota
Minneapolis, MN, United States
Measuring cognitive outcomes with GSV’s in MPS I
3:50 Bernice Kuca
Allievex Corporation
Boston, MA, United States
Use of GSV scores in natural history of MPS IIIB
4:00 Heather Adams
University of Rochester Medical Center
Rochester, NY, United States
Use of GSVs using the Vineland in CLN3 Batten disease
4:10 Patroula 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
4:25 Panel Discussion and Audience Q&A
5:00 Adjourn

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

Basic Science

Moderators: Brian Bigger & Lalitha Belur

7:30 Chester 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
7:35 Stuart A. Kornfeld
Washington University
St. Louis, MO, United States
Dissecting the Mannose 6-Phosphate Pathway – A Key to Understanding Lysosomal Enzyme Trafficking
8:00 Allisandra 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&A Allisandra Rha, Travis Moore, Oriana Mandolfo, and Mahsa Taherzadeh
9:00 Miles 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&A Miles Smith, Gani Perez, Tsui-Fen Chou, and Marya Sabir
10:00 Break
10:30 Elizabeth Braunlin
University of Minnesota
Minneapolis, MN, United States
Aortic dilation in murine mucopolysaccharidosis type I: A tale of two strains
Ikhui 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&A Elizabeth Braunlin, Ikhui Kho, Fiona Weaver, and Sarah Kim
11:30 Break and Satellite Symposia
1:00 Gisele 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&A Gisele Pino, Xuefang Pan, Francyne Kubaski, and Sukirhini Balendran
2:00 Malte Lenders
University Hospital Muenster
Muenster, Germany
Isolation and characterization of a polyclonal human anti-drug antibody as a reference in 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&A Malte Lenders, Sireesha Murala, Walla Al-Hertani, and Joseph Muenzer
3:00 Poster Session in the Exhibit Hall
5:30 Satellite 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. This year, many of the presentations are 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 & Jill Morris

7:30 Chester B. Whitley
University of Minnesota
Minneapolis, MN, United States
2022 Patient Advocate Leader (PAL) Award Announcement and Presentation to Sue Kahn
7:45 Chester B. Whitley
University of Minnesota
Minneapolis, MN, United States
2022 Young Investigator Awards Announcement and Presentation
8:00 Jennifer 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&A Jennifer Cohen, Tahseen Mozaffar, Kevin Flanigan, and Tierra Bobo
9:00 Maximiliano 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&A Maximiliano Presa, Lalitha Belur, Stuart Ellison, and Michael Przybilla
10:00 Break & Exhibits
10:30 Jonathan 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
Miriam Nickel
University Medical Center Hamburg-Eppendorf
Hamburg, Germany
Hamburg iNCL scale: A new tool for the quantitative description of disease progression in infantile CLN1 patients
Angela Schulz
University Medical Center Hamburg-Eppendorf
Hamburg, Germany
Natural history of CLN7 disease: Quantitative prospective assessment of disease characteristics and rate of progression
Live Moderated Q&A Jonathan Cooper, Hemanth Nelvagal, Miriam Nickel, and Angela Schulz
11:30 Break, Exhibits and Satellite Symposia
1:00 Troy 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
Tong Zhang
Seattle Children’s Research Institute
Seattle, WA, United States
Development of multiplexed proteomic quantification of GAA and IDUA signature peptides in dried blood spots and buccal swabs by immuno-SRM-MS/MS for second-tier screening of Pompe disease and Hurler syndrome
Live Moderated Q&A Troy Lund, Igor Nestrasil, Lynda Polgreen, and Tong Zhang
2:00 Erin 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&A Erin Huggins, Lisa Berry, Haiyan Fu, and Jillian Gallagher
3:00 Poster Session in the Exhibit Hall
5:30 Satellite Symposia

Wednesday begins 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: Maurizio Scarpa & Patroula Smpokou

7:30 Chester B. Whitley
University of Minnesota
Minneapolis, MN, United States
Welcome and Keynote Speaker Introduction
7:35 Tippi MacKenzie
University of California, San Francisco
San Francisco, CA, United States
Prenatal enzyme replacement therapy for lysosomal disorders: Launching a phase I clinical trial
8:00 Simon 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 Hosptial
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&A Simon Jones, Paul Harmatz, Maurizio Scarpa, and Raymond Wang
9:00 Roberto 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&A Roberto Giugliani, Robin Lachmann, Ian O’Connor, and Linda Scheffers
10:00 Break & Exhibits
10:30 Yin-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&A Yin-Hsiu Chien, Eric Mallack, Shaun Brothers, and Jerry Vockley
11:30 Break, Exhibits and Satellite Symposia
1:00 Cynthia 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&A Cynthia Tifft, Jeanine Jarnes, Saima Kayani, and Stephanie Cherqui
2:00 Ecenur 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
Alexander Broomfield
Royal Manchester Children’s Hospital
Manchester, United Kingdom
Neurocognitive outcome in mucopolysaccharidosis type I (Hurler phenotype) post HSCT
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&A Ecenur Tuc Bengur, Alexander Broomfield, Shoshana Revel-Vilk, and Michal Becker-Cohen
3:00 Poster Session in the Exhibit Hall
5:30 Satellite Symposia

The fourth research day of the meeting begins 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 & Dan Tagle

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

7:30 Chester B. Whitley
University of Minnesota
Minneapolis, MN, United States
Welcome and New Treatment Awards
8:00 Anna 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&A Anna Bakardjiev, Jacinthe Gingras, Nidal Boulos, and Laura Smith
9:00 Rebeca 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&A Rebeca Choy, Maria Praggastis, Julie Ullman, and Niek van Til
10:00 Break & Exhibits
10:30 Maria 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&A Maria Escolar, Russell Gotschall, Erika Pearson, and Francois-Xavier Frapaise
11:30 Break, Exhibits and Satellite Symposia
1:00 Christiane 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&A Christiane Hampe, Andrew Hedman, Elizabeth Hwang-Wong, and Leslie Jacobsen
2:00 Kyle 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&A Kyle Landskroner, Ralph Laufer, Mariana Loperfido, and Luca Biasco
3:00 Poster Session in the Exhibit Hall
5:30 Satellite Symposia

Toward bringing the most recent research to the platform of WORLDSymposium 2022, after the late-breaking abstract submissions close on December 1, 2021, 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 2022 meeting. Content for Late-Breaking Science Friday will be posted by December 15, 2021. Download the WORLDSymposium 2021 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.

6:45 Satellite Symposia
8:00 Francesca Tucci
IRCCS San Raffaele Scientific Institute
Milan, Italy
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&A Priya Kishnani, Derralynn Hughes, and David Weinstein
9:00 Taylor 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
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
Marie-Anne Colle
Oniris, Vet School of Nantes
Nantes, France
FOXO3a over-expression in Pompe disease alleviates muscle impairments autophagic buildup
Live Moderated Q&A Taylor Fields, Jaya Ganesh, and Marie-Anne Colle
10:00 Break
10:15 Victoria 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&A Victoria Jensen, Naresh Kumar Meena, Kwi Hye Kim, and John Mitchell
11:15 Behzad 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
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&A Behzad Najafian, Jagdeep Walia, and Markus Schwarz
12:00 Meeting Adjourns

*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 Pacific Standard Time (PST).

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 co-chairs 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.