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