WORLDSymposium™ 2022 Preliminary Program* on Lysosomal Diseases
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) | |
| 3:00 | 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 | Paul E. Williams 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 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
| 7:30 | 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 |
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| 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 |
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| Mahsa Taherzadeh McGill University Montreal, QC, Canada |
Expression of misfolded HGSNAT protein aggravates neurological phenotype in mucopolysaccharidosis type IIIC *2022 Young Investigator Award Recipient |
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| 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 |
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| 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 |
| 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 |
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| 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 |
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| 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, Ik Hui 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 | 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 |
| 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 |
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| 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 | Behzad Najafian, 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. 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
| 7:30 | Chester 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 |
| 8:00 | 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 |
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| 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 | |
| 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&A | Jonathan Cooper, Hemanth Nelvagal, Jaya Ganesh, and Francyne Kubaski | |
| 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 | |
| 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&A | Troy Lund, Igor Nestrasil, Lynda Polgreen, and Amy White | |
| 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 |
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| 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 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
| 7:30 | 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 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&A | Tippi MacKenzie, 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 |
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| 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 |
| 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&A | Ecenur Tuc Bengur, Uma Ramaswami, 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 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.
| 7:30 | 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 was 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 | Su 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&A | Su Syonmez, 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 |
| 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&A | Taylor Fields, Chase Chen, Jagdeep Walia, and Markus Schwarz | |
| 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 | Meeting Adjourns |