WORLDSymposium™ 2023 Preliminary Program on Lysosomal Diseases
On Tuesday afternoon, the 2nd Annual 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 2nd Annual Robert J. Gorlin Symposium focused on precision medicine in lysosomal diseases.
Following the Gorlin Symposium, seasoned researchers provided a global review of the past years’ advances, including a state-of-the-art overview of lysosome biology, diseases and therapies in the Emerging Trends Session. This review evolves every year, providing a summary of the latest research trends, new knowledge, and other discoveries. The course is intended for researchers and health care practitioners who are interested in being current on recent advances in the basic science, diagnosis, and treatment of lysosomal diseases.
| 1:45 PM | 2nd Annual Robert J. Gorlin Symposium | Precision Medicine: A Multidisciplinary Approach |
| 2:00 PM | Jeanine R. Jarnes University of Minnesota Minneapolis, MN, United States | Welcome and Introduction of Speakers and Overview of Precision Medicine |
| 2:15 PM | Filippo Pinto e Vairo Mayo Clinic Rochester, MN, United States | Case Studies of Multi-Omic Approach for the Diagnosis of Lysosomal Diseases |
| 2:35 PM | Jennifer Goldstein UNC-Chapel Hill Chapel Hill, NC, United States | NIH-Funded Resources: ClinGen and ClinVar |
| 2:55 PM | Jeanine R. Jarnes University of Minnesota Minneapolis, MN, United States | Implementation of Pharmacogenomics Programs within Clinical Settings |
| 3:10 PM | Panel Discussion and Audience Q&A | |
| Emerging Trends State-of-the-Art for Experts | ||
| 4:00 PM | Chester B. Whitley Course Director University of Minnesota Minneapolis, MN, United States | Introduction and Course Overview |
| 4:01 PM | Gregory A. Grabowski Cincinnati Children’s Hospital Research Foundation Cincinnati, OH, United States | Lysosomal Function and Pathogenesis |
| 4:15 PM | Marc C. Patterson Mayo Clinic Children’s Center Rochester, MN, United States | Clinical Features |
| 4:30 PM | Amy Gaviglio Centers for Disease Control and Prevention Minneapolis, MN, United States | Newborn Screening |
| 4:45 PM | Jeanine R. Jarnes University of Minnesota Minneapolis, MN, United States | Lysosomal Disease Therapies |
| 5:00 PM | Christine Yuen-Yi Hon Office of New Drugs | CDER | FDA Silver Spring, MD, USA | Regulatory Review |
| 5:15 PM | Jennifer Klein National MPS Society Durham, NC, United States | Patient Perspective |
| 5:30 PM | N. Matthew Ellinwood National MPS Society Durham, NC, United States | Rare Disease Research |
| 5:45 PM | Chester B. Whitley Moderator University of Minnesota Minneapolis, MN, United States | Open Q&A |
| 6:00 PM | Be the Catalyst Event |
After the presentation of the Innovation Award, the formal scientific sessions of WORLDSymposium 2023 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 2023 program (PDF 200KB).
Basic Science
Moderators: Brian Bigger, Lalitha Belur, and Michael Przybilla
| 6:15 AM | Satellite Symposia | |
| 7:30 AM | Chester B. Whitley University of Minnesota Minneapolis, MN, United States | Welcome & Announcements Presentation of 2023 Roscoe O. Brady Award to William A. Gahl |
| William A. Gahl National Human Genome Research Institute Bethesda, MD United States | Roscoe O. Brady Award Presentation: Pursuing Advances in Rare and Undiagnosed Diseases | |
| 8:00 AM | Xiangli Zhao New York University Grossman School of Medicine New York, NY, United States | A brain penetrant progranulin-derived biologic protects against neuronopathic Gaucher disease *2023 Young Investigator Award Recipient |
| Yi Lin Cincinnati Children’s Hospital Medical Center Cincinnati, OH, United States | Earlier-onset, more severe neurodegeneration in PGRN KO mice with a decreased dose of D409V Gba1 | |
| Zhenting Zhang Cincinnati Children’s Hospital Medical Center Cincinnati, OH, United States | A multifaceted evaluation of microgliosis and differential cellular dysregulations of mTOR signaling with fluctuating lysosome function in neuronopathic Gaucher disease *2023 Young Investigator Award Recipient | |
| Irene Serrano Gonzalo Fundación Española para el Estudio y Terapéutica de la Enfermedad de Gaucher y otras lisosomales Zaragoza, Spain | Study of miRNA expression profiles depending on the severity of bone involvement in patients with Gaucher disease | |
| Moderated Q&A | Xiangli Zhao, Yi Lin, Zhenting Zhang, and Irene Serrano Gonzalo | |
| 9:00 AM | Maria Fuller SA Pathology North Adelaide, Australia | Signature biomarkers for diagnosis, screening, and biochemical monitoring of the mucopolysaccharidoses |
| Rebecca C. Ahrens-Nicklas The Children’s Hospital of Philadelphia Philadelphia, PA, United States | Biomarkers of disease severity in multiple sulfatase deficiency | |
| Hannah Best Cardiff University Cardiff, United Kingdom | The Batten disease associated protein CLN3 is required for the efflux of lysosomal K+ *2023 Young Investigator Award Recipient | |
| Tyler M. Pierson Cedars-Sinai Medical Center Los Angeles, CA, United States | Modeling CLN6 with IPSC-derived neurons and glia | |
| Moderated Q&A | Maria Fuller, Rebecca C. Ahrens-Nicklas, Hannah Best, and Tyler M. Pierson | |
| 10:00 AM | Break | |
| 10:30 AM | Francyne Kubaski Greenwood Genetic Center Greenwood, SC, United States | Sensitivity and specificity of four lysosomal disorder biomarkers in dried blood spots |
| Neil Kasaci Lysosomal and Rare Disorders Research and Treatment Center Fairfax, VA, United States | Caspase inhibitors can counteract inflammasome activation and caspase-1 mediated fibrosis in Fabry disease *2023 Young Investigator Award Recipient | |
| Saida Ortolano Galicia Sur Health Research Institute Vigo, Spain | PBXs: New pharmacological chaperones to increase α-galactosidase A activity in Fabry disease cellular models | |
| Efecan Aral University of Massachusetts – Amherst Amherst, MA, United States | Establishing personalized medicine in Fabry disease through functional analysis of disease mutants | |
| Moderated Q&A | Francyne Kubaski, Neil Kasaci, Saida Ortolano, and Efecan Aral | |
| 11:30 AM | Break and Satellite Symposia | |
| 1:00 PM | Behzad Najafian University of Washington Seattle, WA, United States | The spectrum of podocyte injury in later onset (LO) variants of Fabry disease (FD) |
| David Smerkous Oregon State University Corvallis, OR, United States | Development of an online cloud-based tool for automatic measurement of foot process width (FPW) using deep learning (DL): Applications in assessment of podocyte injury in Fabry disease (FD) *2023 Young Investigator Award Recipient | |
| Alex J. Shamoun University of Florida Gainesville, FL, United States | Differences in organ abundance of iduronate 2-sulfatase and intravenous recombinant enzyme delivery: Potential implications for clinical response to ERT in MPS II | |
| Marta Artola Leiden University Leiden, Netherlands | 1,6-epi-cyclophellitol cyclosulfamidate is a new superior lysosomal α-glucosidase stabilizer for the treatment of Pompe disease | |
| Moderated Q&A | Behzad Najafian, David Smerkous, Alex J. Shamoun, and Marta Artola | |
| 2:00 PM | Mahsa Taherzadeh McGill University Montreal, QC, Canada | Severe neuronal demyelination in Sanfilippo disease |
| Frederick Ashby University of Florida Gainesville, FL, United States | Bone pathology within Sanfilippo syndrome type B mice as a novel biometric for peripheral disease correction | |
| Chloé Dias Université Toulouse III Paul Sabatier Toulouse, France | Microglia-derived extracellular vesicles promote neuropathology in Sanfilippo syndrome *2023 Young Investigator Award Recipient | |
| Angela J. Espejo Pontificia Universidad Javeriana Bogotá D.C., Colombia | Magnetite nanoparticles as a vehicle to transport recombinant hexosaminidase A and B through an in vitro model of the blood-brain barrier | |
| Moderated Q&A | Mahsa Taherzadeh, Frederick Ashby, Chloé Dias, and Angela J. Espejo | |
| 3:00 PM | Poster Session | Exhibit Hall |
| 5:15 PM | Speed Mentoring Session |
After the presentation of the 2023 Young Investigator Awards and the Patient Advocate Leader (PAL) award, the entirety of the research presentations on Thursday were dedicated to the Translational Research category. In 2023, 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 2023 program (PDF 200KB).
Translational Research
Moderators: PJ Brooks, Amy Gaviglio, and Francyne Kubaski
| 6:15 AM | Satellite Symposia | |
| 7:30 AM | Chester B. Whitley University of Minnesota Minneapolis, MN, United States | Welcome & Announcements Presentation of 2023 Patient Advocate Leader (PAL) Award Announcement to Christine Waggoner and 2023 Young Investigator Awards Presentation |
| 8:00 AM | Anna-Maria Wiesinger Paracelsus Medical University Salzburg Salzburg, Austria | A precision medicine tool for high utilization and quality of individual treatment trials with immunomodulatory drugs in mucopolysaccharidosis *2023 Young Investigator Award Recipient |
| Barbara K. Burton Northwestern University Feinberg School of Medicine Chicago, IL, United States | Newborn screening for mucopolysaccharidosis type II | |
| Stuart M. Ellison University of Manchester Manchester, United Kingdom | Validation of a GMP stem cell gene therapy manufacturing process for mucopolysaccharidosis type II (MPS II) in preparation for an approved phase I/II clinical trial | |
| Anna Luzzi The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center Torrance, CA, United States | Decreased regulatory T-cells in patients with Sanfilippo syndrome may allow the development of autoimmune disease | |
| Moderated Q&A | Anna-Maria Wiesinger, Barbara K. Burton, Stuart M. Ellison, and Anna Luzzi | |
| 9:00 AM | Kim M. Hemsley Flinders University Bedford Park, Australia | A prohibitin-targeting drug modifies aspects of disease in a mouse model of Sanfilippo syndrome |
| Simon Jones St. Mary’s Hospital Manchester, United Kingdom | Sustained biochemical engraftment and early clinical outcomes following ex-vivo autologous stem cell gene therapy for mucopolysaccharidosis type IIIA | |
| Oriana Mandolfo University of Manchester Manchester, United Kingdom | Developing an iPSC-based neural gene therapy approach for MPS IIIA | |
| Nissrine Ballout Université Toulouse III Paul Sabatier Toulouse, France | Development and validation of a novel adeno-associated viral gene therapy for mucopolysaccharidosis type IIIB (MPS IIIB) *2023 Young Investigator Award Recipient | |
| Moderated Q&A | Kim M. Hemsley, Simon Jones, Oriana Mandolfo, and Nissrine Ballout | |
| 10:00 AM | Break & Exhibits | |
| 10:30 AM | Troy Lund University of Minnesota Minneapolis, MN, United States | Decreases in CSF neuro-inflammatory markers are associated with gain in neurocognitive function after ERT + HCT in Hurler syndrome |
| Roselena S. Schuh Universidade Federal do Rio Grande do Sul Porto Alegre, Brazil | Nasal administration of laronidase-loaded liposomes aiming at mucopolysaccharidosis type I treatment *2023 Young Investigator Award Recipient | |
| Michael J. Przybilla University of Minnesota Minneapolis, MN, United States | Treating murine Hurler syndrome utilizing small-activating RNA following bone marrow transplant | |
| Betul Celik University of Delaware Newark, DE, United States | Lentiviral gene therapy for mucopolysaccharidosis type IVA | |
| Moderated Q&A | Troy Lund, Roselena S. Schuh, Michael J. Przybilla, and Betul Celik | |
| 11:30 AM | Break, Exhibits and Satellite Symposia | |
| 1:00 PM | Leigh Fremuth St. Jude Children’s Research Hospital Memphis, TN, United States | AAV-mediated gene therapy for galactosialidosis: A long-term safety and efficacy study |
| Sandra Vranic University of Manchester Manchester, United Kingdom | Defect-free graphene enhances enzyme delivery to fibroblasts derived from the patients with lysosomal disorders | |
| Paul J. Orchard University of Minnesota Minneapolis, MN, United States | Compassionate use of OTL-200 for patients with metachromatic leukodystrophy | |
| Laura A. Adang Children’s Hospital of Philadelphia Philadelphia, PA, United States | Developmental delay can precede neurologic regression in metachromatic leukodystrophy | |
| Moderated Q&A | Leigh Fremuth, Sandra Vranic, Paul J. Orchard, and Laura A. Adang | |
| 2:00 PM | Lars Schlotawa University Medical Center Goettingen Goettingen, Germany | Screening of approved drugs identifies 3rd generation retinoids as in vitro therapeutic agents in multiple sulfatase deficiency |
| Aimee Donald University of Manchester Manchester, United Kingdom | Sustained improvement of clinical CNS and somatic features of Gaucher disease type 3 after haematopoietic stem cell (HSC) gene therapy: A first-in-world report | |
| Andreas Hahn University Hospital Giessen Giessen, Germany | Treatment of CLN1 disease with a blood-brain barrier penetrating lysosomal enzyme AGT-194 | |
| Jason A. Weesner St. Jude Children’s Research Hospital Memphis, TN, United States | Preclinical enzyme replacement therapy with a recombinant β-galactosidase-lectin fusion for CNS delivery and treatment of GM1-gangliosidosis *2023 Young Investigator Award Recipient | |
| Moderated Q&A | Lars Schlotawa, Aimee Donald, Andreas Hahn, and Jason A. Weesner | |
| 3:00 PM | Poster Session | Exhibit Hall |
| 5:15 PM | Satellite Symposia |
Friday began with a keynote address from Dr. Peter Marks: “Taking Gene Therapy to the Next Level.” Following Dr. Marks’s address, the presentations shifted to Clinical Applications, including abstracts on Clinical Trials for Registration. Abstracts presented in this category had a US FDA Investigational New Drug (IND) application for a phase I-III clinical trial or hold an EMA Investigational Medicinal Product Dossier (IMPD) or equivalent. Clinical Outcomes abstracts also were presented. Download the WORLDSymposium 2023 program (PDF 200KB).
Clinical Applications
Moderators: Lynda Polgreen, Marc Patterson, and Filippo Vairo
| 6:15 AM | Satellite Symposia | |
| 7:30 AM | Chester B. Whitley University of Minnesota Minneapolis, MN, United States | Welcome and Keynote Speaker Introduction |
| Peter Marks Center for Biologics Evaluation and Research US Food & Drug Administration (FDA) Silver Spring, MD, United States | Keynote Address: Taking Gene Therapy to the Next Level | |
| 8:00 AM | Francesca Fumagalli San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute Milan, Italy | Long-term clinical outcomes of atidarsagene autotemcel (autologous hematopoietic stem cell gene therapy [HSC-GT] for metachromatic leukodystrophy) with up to 11 years follow-up |
| Maria Jose de Castro Lopez Hospital Clínico Universitario de Santiago de Compostela Santiago, Spain | Twice weekly dosing with sebelipase alfa rescues severely ill infants with Wolman disease | |
| Robert J. Hopkin Cincinnati Children’s Hospital Medical Center Cincinnati, OH, United States | STAAR, a phase I/II study of isaralgagene civaparvovec (ST-920) gene therapy in adults with Fabry disease: Dose escalation phase results | |
| Valeria Calbi San Raffaele Telethon Institute for Gene Therapy, IRCCS San Raffaele Scientific Institute Milan, Italy | Lentiviral haematopoietic stem cell gene therapy for metachromatic leukodystrophy: Results in 5 patients treated under nominal compassionate use | |
| Moderated Q&A | Francesca Fumagalli, Maria Jose de Castro Lopez, Robert J. Hopkin, and Valeria Calbi | |
| 9:00 AM | Joseph Muenzer University of North Carolina Chapel Hill Chapel Hill, NC, United States | Interim analysis of key clinical outcomes from a phase 1/2 study of weekly intravenous DNL310 (brain-penetrant enzyme replacement therapy) in MPS II |
| Paul Harmatz UCSF Benioff Children’s Hospital Oakland Oakland, CA, United States | Interim results of a phase 1/2 study of JR-171 (lepunafusp alfa), a novel brain-penetrant enzyme replacement therapy for MPS I | |
| Raymond Y. Wang CHOC Children’s Specialists 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 | |
| Cara O’Neill Cure Sanfilippo Foundation Columbia, SC, United States | Development of consensus guidelines for the clinical care of individuals with Sanfilippo syndrome | |
| Moderated Q&A | Joseph Muenzer, Paul Harmatz, Raymond Y. Wang, and Cara O’Neill | |
| 10:00 AM | Break & Exhibits | |
| 10:30 AM | Barry J. Byrne University of Florida Gainesville, FL, United States | Long-term follow-up of cipaglucosidase alfa/miglustat in ambulatory patients with Pompe disease: An open-label phase I/II study (ATB200-02) |
| Erin Huggins Duke University Durham, NC, United States | Longitudinal follow up uncovers an early emerging phenotype in children with late-onset Pompe disease diagnosed via newborn screening | |
| Priya S. Kishnani Duke University Medical Center Durham Durham, NC, United States | Efficacy and safety of avalglucosidase alfa in participants with late-onset Pompe disease after 145 weeks of treatment during the COMET trial | |
| Jordi Diaz Manera Newcastle University Newcastle Upon Tyne, United Kingdom | AT845 gene replacement therapy for late onset Pompe disease: An update on safety and preliminary efficacy data from FORTIS, a phase I/II open-label clinical study | |
| Moderated Q&A | Barry J. Byrne, Erin Huggins, Priya S. Kishnani, and Jordi Diaz Manera | |
| 11:30 AM | Break, Exhibits and Satellite Symposia | |
| 1:00 PM | Eric Wallace University of Alabama Birmingham, AL, United States | First results of a head-to-head trial of pegunigalsidase alfa vs. agalsidase beta in Fabry disease: 2 year results of the phase 3 randomized, double-blind, BALANCE study |
| John Bernat University of Iowa Hospitals and Clinics Iowa City, IA, United States | Long-term safety and efficacy of pegunigalsidase alfa administered every 4 weeks in patients with Fabry disease: Two-year interim results from the ongoing phase 3 BRIGHT51 open-label extension study | |
| Melissa P. Wasserstein Albert Einstein College of Medicine/Children’s Hospital at Montefiore Bronx, NY, United States | Plasma lyso-sphingomyelin as a biomarker for acid sphingomyelinase deficiency: Correlations with baseline disease and response to olipudase alfa treatment in clinical trials | |
| Roberto Giugliani Federal University of Rio Grande do Sul Porto Alegre, RS, Brazil | Long-term catch-up growth in children with acid sphingomyelinase deficiency treated with olipudase alfa enzyme replacement therapy in the ASCEND-Peds trial | |
| Moderated Q&A | Eric Wallace, John Bernat, Melissa P. Wasserstein, Roberto Giugliani | |
| 2:00 PM | Pramod K. Mistry Yale University School of Medicine New Haven, CT, United States | Changes in hematologic and visceral manifestations over time following imiglucerase initiation in Gaucher disease type 1 and type 3 pediatric patients in the ICGG Gaucher Registry |
| Jeanine R. Jarnes University of Minnesota Minneapolis, MN, United States | Updated interim safety, biomarker, and efficacy data from Imagine-1: A phase 1/2 open-label, multicenter study to assess the safety, tolerability, and efficacy of a single dose, intra-cisterna magna (ICM) administration of PBGM01 in subjects with type I (early onset) and type IIA (late onset) infantile GM1 gangliosidosis (GM1) | |
| Yoshikatsu Eto Institute of Neurological Disease Kawasaki City, Japan | Real-world data of enzyme replacement therapy with pabinafusp alfa for neuronopathic MPS-II: Updated clinical data from Japan | |
| David L. Rogers Nationwide Children’s Hospital Columbus, OH, United States | Intravitreal enzyme replacement therapy to prevent retinal disease progression in children with neuronal ceroid lipofuscinosis type 2 (CLN2): Interim safety report | |
| Moderated Q&A | Pramod K. Mistry, Jeanine R. Jarnes, Yoshikatsu Eto, and David L. Rogers | |
| 3:00 PM | Poster Session | Exhibit Hall |
| 5:15 PM | Satellite Symposia |
The fourth research day of the meeting began with the New Treatment Award. Then, for the fourth year, the Contemporary Forum allowed for presentation of scientific abstracts — Basic, Translational, and Clinical — submitted by industry first-author researchers. Although the first three days of WORLDSymposium were accredited and approved for CME credit, Commercial Interests were not eligible for ACCME accreditation. The Contemporary Forum allowed commercial interests to present their work to the WORLDSymposium audience, in that 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 2023 program (PDF 200KB).
Contemporary Forum
Moderators: Nishitha Pillai, Dan Tagle, and Ellen Sidransky
| 6:15 AM | Satellite Symposia | |
| 7:45 AM | Chester B. Whitley University of Minnesota Minneapolis, MN, United States | Welcome and New Treatment Award |
| 8:00 AM | Shababa T. Masoud Denali Therapeutics South San Francisco, CA, United States | ETV:SGSH, a brain-penetrant enzyme transport vehicle for SGSH, corrects heparan sulfate accumulation, lysosomal lipid storage and inflammation in MPS IIIA mouse brain |
| Asuka Inoue JCR Pharmaceuticals Co., Ltd. Kobe, Japan | Nonclinical pharmacodynamics, pharmacokinetics and safety profiles of anti-human transferrin receptor antibody-fused N-sulfoglucosamine sulfohydrolase for mucopolysaccharidosis type IIIA | |
| Andrew Hedman M6P Therapeutics St. Louis, MO, United States | Novel dual promoter AAV gene therapy platform ensures production of therapeutic soluble lysosomal enzymes with high M6P content to enable broad cellular uptake and cross correction in vivo | |
| Charu Reddy Codexis San Carlos, CA, United States | An engineered β-galactosidase with improved stability and cross-correction for the potential treatment of GM1 gangliosidosis via AAV gene therapy | |
| Moderated Q&A | Shababa T. Masoud, Asuka Inoue, Andrew Hedman, and Charu Reddy | |
| 9:00 AM | Stephanie Cherqui University of California San Diego La Jolla, CA, United States | Phase 1/2 clinical trial of autologous hematopoietic stem and progenitor cell (HSPC) gene therapy for cystinosis |
| Shyam Ramachandran Sanofi Waltham, MA, United States | AAV-ARSA-mediated gene replacement for the treatment of metachromatic leukodystrophy | |
| Mathews Adera AVROBIO, Inc. Cambridge, MA, United States | The Guard1 clinical trial – A first in-human, phase 1/2 study evaluating AVR-RD-02, a hematopoietic stem cell (HSC) gene therapy for Gaucher disease: Preliminary safety, pharmacodynamic and clinical efficacy results from the subjects observed for up to 24 months post-infusion | |
| Maria L. Escolar Forge Biologics Grove City, OH, United States | First-in-human phase 1/2 trial of intravenous FBX-101 following hematopoietic stem cell transplantation increases GALC activity, supports brain development, and improves motor function in patients with infantile Krabbe disease: RESKUE clinical trial | |
| Moderated Q&A | Stephanie Cherqui, Shyam Ramachandran, Mathews Adera, and Maria L. Escolar | |
| 10:00 AM | Break & Exhibits | |
| 10:30 AM | Raphael Schiffmann 4D Molecular Therapeutics Emeryville, CA, United States | Cardiac effects of 4D-310 in adults with Fabry disease in a phase 1/2 clinical trial: Functional, quality of life, and imaging endpoints in patients with 12 months of follow up |
| Russell Gotschall M6P Therapeutics St. Louis, MO, United States | M021: rhGAA with optimal glycosylation profile containing very high levels of bis-phosphorylated N-glycans clears accumulated glycogen and rapidly normalizes muscle strength in treated Pompe disease mice | |
| Ana C. Puhl Collaborations Pharmaceuticals, Inc. Raleigh, NC, United States | Developing treatments for rare diseases on a shoestring: The Batten disease (CLN1) enzyme replacement therapy experience | |
| Michael H. Gelb University of Washington Seattle, WA, United States | A glimpse into the feasibility of next generation sequencing for newborn screening of lysosomal and other diseases with second-tier biochemical assays as part of the screening process | |
| Moderated Q&A | Raphael Schiffmann, Russell Gotschall, Ana C. Puhl, and Michael H. Gelb | |
| 11:30 AM | Break, Exhibits and Satellite Symposia | |
| 1:00 PM | Kyle Landskroner Azafaros AG Basel, Switzerland | AZ-3102 significantly increases survival and decreases neuroinflammation in a mouse model of Sandhoff disease |
| Yannan Xi Maze Therapeutics South San Francisco, CA, United States | Small molecule inhibition of glycogen synthase 1 restores autophagolysosomal and metabolic pathway dysfunction in a mouse model of Pompe disease | |
| Shivakumar Pattada BioStrategies LC State University, AR, United States | RTB-lectin facilitates the distribution of enzymes across the blood-brain-barrier and correction in the MPS IIIA mouse model | |
| Michael Tortorici Aro Biotherapeutics Berwyn, PA, United States | Centyrin-targeted glycogen synthase-1 siRNA conjugates: A novel therapeutic modality for the treatment of Pompe disease | |
| Moderated Q&A | Kyle Landskroner, Yannan Xi, Shivakumar Pattada, and Michael Tortorici | |
| 2:00 PM | Nagy Habib MiNA Therapeutics Ltd London, United Kingdom | Drugging transcription factors with small activating RNAs: A novel approach for enhancing bone marrow therapy for monogenic rare diseases |
| Meera Modi Takeda Cambridge, MA, United States | Building a better translational model of neuropathic Gaucher disease | |
| Yinyin Huang Sanofi Cambridge, MA, United States | Using single nuclear RNAseq to assess impact of AAV-ARSA gene therapy on oligodendrocyte populations | |
| Kwi Hye Kim REGENXBIO Inc Rockville, MD, United States | In vitro pharmacology study using retina organoids and retina-on-a-chip of CLN2 patient-derived induced pluripotent stem cells | |
| Moderated Q&A | Nagy Habib, Meera Modi, Yinyin Huang, and Kwi Hye Kim | |
| 3:00 PM | Poster Session | Exhibit Hall |
Toward bringing the most recent research to the platform of WORLDSymposium 2023, after the late-breaking abstract submissions closed on December 1, 2022, 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 2023 meeting. Download the WORLDSymposium 2023 program (PDF 200KB).
Late-Breaking Science
Moderators: Elizabeth Braunlin, Roberto Giugliani, and Rebecca Ahrens-Nicklas
| 8:00 AM | Li Ou Genemagic Bio Agoura Hills, CA, United States | A meta-analysis of 39 AAV clinical trials for lysosomal diseases: Immunogenicity, toxicity, and durability |
| Lucas Tricoli Children’s Hospital of Philadelphia Philadelphia, PA, United States | Improved gene therapy for metachromatic leukodystrophy | |
| Andrés Felipe Leal Pontificia Universidad Javeriana Bogotá D.C., Colombia | Assessment of an iron oxide-coupled CRISPR/nCas9 gene editing in mucopolysaccharidoses type IVA mouse model | |
| Chester B. Whitley University of Minnesota Minneapolis, MN, United States | The PS Gene-editing (PSG) System for treatment of lysosomal diseases | |
| Moderated Q&A | Li Ou, Lucas Tricoli, Andres Leal, and Chester B. Whitley | |
| 9:00 AM | Can Ficicioglu The Children’s Hospital of Philadelphia Philadelphia, PA, United States | RGX-121 gene therapy for the treatment of neuronopathic mucopolysaccharidosis type II (MPS II): interim analysis of data from the first in human study |
| Kelly George Sanofi Cambridge, MA, United States | Anti-mouse-TfR-GAA fusion proteins for the treatment of Pompe disease targeting the central nervous system and peripheral tissues | |
| Julie C. Ullman Maze Therapeutics South San Francisco, CA, United States | Results from a first in human study of MZE001, an orally bioavailable inhibitor of glycogen synthase 1 and potential substrate reduction therapy for Pompe disease | |
| Benedikt Schoser Ludwig-Maximilians-Universität München Munich, Germany | Long-term efficacy and safety of cipaglucosidase alfa/miglustat in ambulatory patients with Pompe disease: A phase III open-label extension study (ATB200-07) | |
| Moderated Q&A | Can Ficicioglu, Kelly George, Julie C. Ullman, and Benedikt Schoser | |
| 10:00 AM | Break | |
| 10:15 AM | Xiomara Rosales Neurogene Inc. New York, NY, United States | Evidence from a study of CLN5 -/- sheep supporting dose escalation in an ongoing clinical trial of NGN-101 in pediatric patients with CLN5 Batten disease |
| Patricia I. Dickson Washington University in St. Louis Saint Louis, MO, United States | Intraventricular recombinant human N-acetylglucosamine-6-sulfatase corrects lysosomal storage in mucopolysaccharidosis type IIID mice | |
| Eric H. Zanelli Allievex Corporation Boston, MA, United States | Tralesinidase alfa modifies the course of Sanfilippo syndrome type B | |
| Akos Herzeg Center for Maternal-Fetal Precision Medicine, UCSF San Francisco, CA, United States | A phase 1 clinical trial of in utero enzyme replacement therapy for lysosomal disorders: Interim results | |
| Moderated Q&A | Xiomara Rosales, Patricia I. Dickson, Eric H. Zanelli, and Akos Herzeg | |
| 11:15 AM | WORLDSymposium 2023 Adjourns |