WORLDSymposium™ 2024 Preliminary Program on Lysosomal Diseases
On Sunday afternoon, WORLDSymposium presented an exciting new program: The Patient Voice: Is Anyone Listening? The goal of this 2-hour non-CE session was to enhance awareness of the importance of listening to what therapy outcomes and unmet needs are most important to patients and their families, and incorporating those outcomes into clinical trial design and post-trial marketing follow-up.
Following the Patient Voice session, and celebrating 20 Years of WORLDSymposium, the 2nd Annual “Be the Catalyst” event, made possible by generous support from Sanofi, was an exciting event, open to all WORLDSymposium participants. This event provided opportunities to participate in all of the fun scheduled group photos, reconnect with colleagues, make new connections, establish new relationships, welcome new attendees, and celebrate the achievements of past and present WORLDSymposium Award Recipients.
| The Patient Voice: Is Anyone Listening? | ||
| 4:00 PM | Jeanine R. Jarnes University of Minnesota Minneapolis, MN, United States | Welcome |
| 4:01 PM | Alan Finglas MSD Action Foundation | Introductory Remarks from Family Perspective |
| 4:05 PM | Tippi MacKenzie University of California, San Francisco San Francisco, CA, United States | Earlier is better: Updates on a Phase I clinical trial of in utero enzyme replacement therapy |
| 4:15 PM | Danielle Dong Sanofi | From Commitment to Co-Creation: Over 30 Years of Partnership with the Patient Community |
| 4:25 PM | Heather Park Sanofi | As Unique as You: A Personalized Approach to Supporting the Patient’s Journey |
| 4:35 PM | Sairei So JCR Pharmaceuticals | The voice of caregiver study in MPS II and other notable caregiver observations made in JCR’s clinical MPS programs |
| 4:45 PM | Heather Lau Ultragenyx | Incorporating the patient/caregiver voice in rare disease drug development using the biopsychosocial model |
| 4:55 PM | Nita Patel Amicus Therapeutics | Best practices in patient education: How to create tools that meet community needs |
| 5:05 PM | Andres Trevino Chiesi USA, Inc. | Embracing the silence: Taking listening to a new level. Mindfully rare mental health in the Fabry community. |
| 5:15 PM | Andrea Atherton Amgen | Improving Therapeutic Options in Cystinosis Through Partnerships with Patients, Caregivers and Healthcare Providers |
| 5:25 PM | Cara O’Neill Cure Sanfilippo Foundation | Closing Remarks from Family Perspective |
| 5:35 PM | Matthew Ellinwood National MPS Society | Q&A and Panel Discussion (Moderated by Matthew Ellinwood) |
| 5:45 PM | Adjourn | |
| 6:00 PM | Be the Catalyst Event |
After the presentation of the Innovation Award, the formal scientific sessions of WORLDSymposium 2024 officially began with presentations on laboratory research for lysosomal disease. Presentations during the Basic Science sessions were 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 2024 program (PDF 200KB).
Basic Science
Co-Chairs: Lalitha Belur, Greg Grabowski, Michael Przybilla
| 6:15 AM | Satellite Symposia | |
| 7:30 AM | Chester B. Whitley University of Minnesota Minneapolis, MN, United States | Welcome & Announcements Presentation of 2024 Roscoe O. Brady Award to Elsa Shapiro |
| Elsa G. Shapiro University of Minnesota Shapiro Neuropsychology Consulting, LLC Portland, OR, United States | Roscoe O. Brady Award Presentation: The Contribution of Neuropsychology to Understanding Lysosomal Diseases | |
| 8:00 AM | Oriana Mandolfo University of Manchester Manchester, United Kingdom | Systemic inflammation leads to neuronal loss and exacerbates behavioural deficits in a mouse model of MPS IIIA |
| Helen Parker University of Manchester Manchester, United Kingdom | The meningeal immune landscape in mucopolysaccharidosis type IIIA | |
| Jacqueline Hernandez The Lundquist Institute at Harbor-UCLA Torrance, CA, United States | Defects in cell polarity of mucopolysaccharidosis type III (MPS III) forebrain neurons | |
| Travis Moore University of Montreal Montreal, QC, Canada | A small molecule drug, AVP6, rescues synaptic deficits in human iPSC-derived neurons across the mucopolysaccharidosis type III spectrum | |
| Moderated Q&A | Mandolfo, Parker, Hernandez, Moore | |
| 9:00 AM | Yuki Shiro Tokushima University Tokushima, Japan | CTSD integrity in the endoplasmic reticulum is required for CLN6’s anti-aggregate activity *2024 Young Investigator Award Recipient |
| Ching-Chieh Chou Stanford University Stanford, CA, United States | Human transdifferentiated neurons reveal lysosomal repair deficits in Alzheimer’s disease | |
| Salma Begum Columbia University Irving Medical Center New York, NY, United States | The psychosine and galactosylceramide brain spatial distribution and its correlation with neuropathogenic processes | |
| Marya S. Sabir National Institutes of Health Bethesda, MD, United States | Advancing free sialic acid storage (FSASD) disorder disease modeling: Insights from iPSC-derived neural cell types | |
| Moderated Q&A | Shiro, Chou, Begum, Sabir | |
| 10:00 AM | Break | |
| 10:30 AM | Caitlin Calhoun CHOC Children’s Research Institute Orange, CA, United States | Functional efficacy of transplanted, iPSC-derived, human neural stem cells in the brains of MPS I mice |
| Bryce Binstadt University of Minnesota Minneapolis, MN, United States | Identification of inflammatory cells in dilated ascending aortas of IDUA-deficient (MPS I) mice | |
| Esteban Alberto Gonzalez Universidade Federal do Rio Grande do Sul Porto Alegre, Brazil | Losartan treatment in mucopolysaccharidosis type I mice: Beneficial effects on aortic structure and pathways insights *2024 Young Investigator Award Recipient | |
| Gabrielle Dineck Iop Hospital de Clínicas de Porto Alegre Porto Alegre, Brazil | Biomarker distribution in tissues of MPS I mice: Measurement of disease-specific oligosaccharides by LC-MS/MS | |
| Moderated Q&A | Calhoun, Binstadt, Gonzalez, Iop | |
| 11:30 AM | Break and Satellite Symposia | |
| 1:00 PM | Irene Serrano Gonzalo Fundación Española Para el Estudio y Terapéutica de la Enfermedad de Gaucher y Otras Lisosomales Zaragoza, Spain | Bone involvement in Gaucher disease: Can miRNAs determine or predict the severity degree? *2024 Young Investigator Award Recipient |
| Francyne Kubaski Greenwood Genetic Center Greenwood, SC, United States | Sensitivity and specificity of serum oligosaccharide analysis for the diagnosis and treatment monitoring of patients with alpha-mannosidosis | |
| Maria Fuller SA Pathology North Adelaide, Australia | A multiplex lipid platform improves the laboratory diagnosis of the sphingolipidoses | |
| Sarah Young Duke University School of Medicine Durham, NC, United States | Measurement of glycosaminoglycans in the amniotic fluid of fetuses with mucopolysaccharidoses treated in a phase I clinical trial by in utero enzyme replacement therapy | |
| Moderated Q&A | Serrano Gonzalo, Kubaski, Fuller, Young | |
| 2:00 PM | Jerry Fuad Harb Children’s Hospital of Orange County Orange, CA, United States | Exploring Pompe disease: Insights into the natural history of novel Gaac.1826dupA knock-in murine model |
| Chloe L. Christensen Children’s Hospital of Orange County Orange, CA, United States | Restoration of acid-alpha glucosidase expression and function through efficient adenine base editing of Pompe disease variants | |
| Shih-hsin Kan CHOC Children’s Research Institute Orange, CA, United States | Improvement of hypertrophic cardiomyopathy in Gaac.1826dupA knock-in murine model with neonatal gene therapy | |
| Patricia Lam Abigail Wexner Research Institute at Nationwide Children’s Hospital Columbus, OH, United States | Liver-directed AAV gene therapy corrects disease symptoms in a murine model of lysosomal acid lipase deficiency | |
| Moderated Q&A | Harb, Christensen, Kan, Lam | |
| 3:00 PM | Poster Session | Exhibit Hall |
| 5:15 PM | Speed Mentoring Event |
After the presentation of the 2024 Young Investigator Awards and the Patient Advocate Leader (PAL) award, the entirety of the research presentations on Tuesday were dedicated to the Translational Research category. In 2024, 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 2024 program (PDF 200KB).
Translational Research
Co-Chairs: Amy Gaviglio, Francyne Kubaski, Dan Tagle
| 6:15 AM | Satellite Symposia | |
| 7:30 AM | Chester B. Whitley University of Minnesota Minneapolis, MN, United States | Welcome & Announcements Presentation of 2024 Patient Advocate Leader (PAL) Award Announcement to Alan Finglas and 2024 Young Investigator Awards Presentation |
| 8:00 AM | Jillian Gallagher University of Massachusetts Chan Medical School Worcester, MA, United States | Adeno-associated viral gene therapy for sialidosis using small and large animal models |
| Emilie Audouard Paris Brain Institute Paris, France | Intravenous gene therapy using AAVPHP.eB for metachromatic leukodystrophy | |
| Patricia I. Dickson Washington University St. Louis St. Louis, MO, United States | Gene therapy with AAV-S1S3 improves disease in mucolipidosis type II mice | |
| Kim M. Hemsley Flinders University Adelaide, SA, Australia | Superior outcomes in neuroretina following IV versus intra-CSF AAV9 gene replacement in mice with MPS IIIA | |
| Moderated Q&A | Gallagher, Audouard, Dickson, Hemsley | |
| 9:00 AM | Elena Gaia Banchi Paris Brain Institute Paris, France | Development and validation of a novel AAV gene therapy for mucopolysaccharidosis type IIIB in large animal |
| Betul Celik University of Delaware Wilmington, DE, United States | Ex vivo lentiviral gene therapy for mucopolysaccharidosis type IVA *2024 Young Investigator Award Recipient | |
| Vi Pham University of Pennsylvania Philadelphia, PA, United States | Single vs. dual transgene ex vivo gene therapy for multiple sulfatase deficiency *2024 Young Investigator Award Recipient | |
| Rafael A. Badell-Grau University of California, San Diego La Jolla, CA, United States | Gene modified hematopoietic stem cell transplantation for mucopolysaccharidosis type IIIC | |
| Moderated Q&A | Banchi, Celik, Pham, Badell-Grau | |
| 10:00 AM | Break & Exhibits | |
| 10:30 AM | Bartholomew A. Pederson Ball State University Muncie, IN, United States | A novel siRNA targeting and delivery platform inhibits glycogen synthesis and reduces glycogen levels in skeletal and cardiac muscle in a mouse model of Pompe disease |
| Luisa Natalia Pimentel Vera Stanford University Stanford, CA, United States | Genome-edited hematopoietic stem cells as a curative approach for Gaucher disease type 1 *2024 Young Investigator Award Recipient | |
| Edina Poletto Stanford University Stanford, CA, United States | Clinical development of autologous genome-edited hematopoietic stem cells to treat mucopolysaccharidosis type I *2024 Young Investigator Award Recipient | |
| Allisandra Rha Children’s Hospital of Orange County Orange, CA, United States | Prime editing corrects the Gaac.1935C> A pathogenic variant in infantile-onset Pompe disease mouse myoblasts | |
| Moderated Q&A | Pederson, Pimentel Vera, Poletto, Rha | |
| 11:30 AM | Break, Exhibits & Satellite Symposia | |
| 1:00 PM | Sandra Vranic University of Manchester Manchester, United Kingdom | Graphene flakes for enhanced delivery of the enzyme to the lysosomes of patient-derived fibroblasts: Bio-persistence and kinetics of substrate degradation |
| Tomas Baldwin University College London London, United Kingdom | The development and application of a rapid and more informative test for autoantibodies to enzyme replacement therapies in Fabry disease *2024 Young Investigator Award Recipient | |
| Sarah Hurt Washington University St. Louis Saint Louis, MO, United States | Anti-IDUA IgG alters cortical bone structure of mucopolysaccaridosis type I mice treated with intravenous enzyme replacement therapy *2024 Young Investigator Award Recipient | |
| Lena Marie Westermann University Medical Center Hamburg-Eppendorf Hamburg, Germany | Analysis of drug-specific antibody response against cerliponase alfa in CLN2 patients by applying a novel two-step assay *2024 Young Investigator Award Recipient | |
| Moderated Q&A | Vranic, Baldwin, Hurt, Westermann | |
| 2:00 PM | Logan M. Glasstetter National Institutes of Health Bethesda, MD, United States | A novel quantitative high-throughput screening assay identifies small-molecule therapeutic candidates for Gaucher and Parkinson disease |
| Dietrich Matern Mayo Clinic Rochester, MN, United States | Newborn screening for Krabbe disease: Status quo and recommendations for improvements | |
| Delaney E. Wilton University of Minnesota Minneapolis, MN, United States | Is time growth? The impact of early initiation and duration of enzyme replacement therapy on growth in Hurler syndrome | |
| Fabiano O. Poswar Hospital de Clínicas de Porto Alegre Porto Alegre, Brazil | Safety and tolerability of losartan for the treatment of cardiovascular manifestations in mucopolysaccharidoses types IVA and VI | |
| Moderated Q&A | Glasstetter, Matern, Wilton, Poswar | |
| 3:00 PM | Industry Expert Theater | |
| Poster Session | Exhibit Hall | |
| Robert J. Gorlin Symposium | Beyond the Blood Brain Barrier: Strategies for Treating the CNS | |
| 5:15 PM | Jeanine R. Jarnes University of Minnesota Minneapolis, MN, United States | Welcome |
| 5:17 PM | Robert G. Thorne Denali Therapeutics | Introduction |
| 5:20 PM | Elsa G. Shapiro University of Minnesota Minneapolis, MN, United States | Overcoming challenges in quantifying developmental change for clinical trials |
| 5:30 PM | Tippi MacKenzie University of California San Francisco, CA, United States | Crossing the blood-brain barrier with in utero enzyme replacement therapy for lysosomal diseases |
| 5:40 PM | Guillermo Seratti BioMarin Pharmaceutical Inc. | Intracerebroventricular infusion strategy for the delivery of cerliponase alfa to the central nervous system |
| 5:50 PM | Mario Aguiar Sanofi | Venglustat and the Brain |
| 6:00 PM | Samiah Al-Zaidy PassageBio | Intra-cisterna magna administration of AAV gene therapy for neurodegenerative disorders |
| 6:10 PM | Mathias Schmidt JCR Pharmaceuticals | JCR Pharmaceuticals tailored Approaches for Treating the Central Nervous System Signs and Symptoms in neuronopathic Lysosomal Diseases |
| 6:20 PM | Heather Lau Ultragenyx | Connecting the dots: Use of early biomarkers to predict longer term functional outcomes |
| 6:30 PM | Biliana Veleva-Rotse Amicus Therapeutics | Fabry in the CNS? |
| 6:40 PM | Laura Pisani REGENXBIO | Intracisternal administration of investigational AAV9 gene therapies to target the central nervous system in pediatric lysosomal disorders |
| 6:50 PM | Robert G. Thorne Denali Therapeutics | Physiologic determinants of treatment efficacy for neuropathic lysosomal storage disorders: Key considerations in going across or bypassing the blood-brain barrier |
| 7:00 PM | Q & A | |
| 7:30 PM | Adjourn |
Wednesday began with a keynote address from Dr. Peter Marks: “Accelerating the Pace of Progress in Gene Therapy.” 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 2024 program (PDF 200KB).
Clinical Applications
Co-Chairs: Marc Patterson, Lynda Polgreen, 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: Accelerating the Pace of Progress in Gene Therapy | |
| 8:00 AM | Robert J. Hopkin Cincinnati Children’s Hospital Medical Center Cincinnati, OH, United States | Isaralgagene civaparvovec (ST-920) gene therapy in adults with Fabry disease: Updated results from an ongoing phase 1/2 study (STAAR) |
| Simon Jones St. Mary’s Hospital Manchester, United Kingdom | Clinical outcomes and sustained biochemical engraftment following ex-vivo autologous stem cell gene therapy for mucopolysaccharidosis type IIIA | |
| Francesca Fumagalli IRCCS San Raffaele Hospital Milan, Italy | Atidarsagene autotemcel (autologous hematopoietic stem cell gene therapy) preserves cognitive and motor development in early-onset metachromatic leukodystrophy with up to 12 years follow-up | |
| Paul Harmatz UCSF Benioff Children’s Hospital Oakland, CA, United States | CAMPSIITE™ phase I/II/III: An interim clinical study update of RGX-121, an investigational gene therapy for the treatment of neuronopathic mucopolysaccharidosis type II (MPS II) | |
| Moderated Q&A | Hopkin, Jones, Fumagalli, Harmatz | |
| 9:00 AM | Angela Schulz University Medical Center Hamburg-Eppendorf Hamburg, Germany | Cerliponase alfa for the treatment of CLN2 disease in a patient cohort including children under 3 years of age |
| Joseph Muenzer University of North Carolina Chapel Hill School of Medicine Chapel Hill, NC, United States | Interim analysis of a phase 1/2 study of weekly intravenous DNL310 (brain-penetrant enzyme replacement therapy) in mucopolysaccharidosis type II | |
| Yoshikatsu Eto Institute of Neurological Disease Kawasaki City, Japan | Integrated long-term efficacy and safety data on enzyme replacement therapy with pabinafusp alfa for neuronopathic mucopolysaccharidosis type II (MPS II): Updated clinical data from Japan and Brazil | |
| Nathalie Guffon Hôpital Femme Mère Enfant Lyon, France | Long‑term efficacy of velmanase alfa treatment in patients with alpha‑mannosidosis: Pooled data from two extension studies (up to 12 years of therapy) | |
| Moderated Q&A | Schulz, Muenzer, Eto, Guffon | |
| 10:00 AM | Break & Exhibits | |
| 10:30 AM | Armaan Saith Yale University School of Medicine New Haven, CT, USA | Digenic disorders in patients with Gaucher disease: Implications for clinical management and study of modifier genes |
| Arunabha Ghosh St. Mary’s Hospital Manchester, United Kingdom | Safety and preliminary efficacy of LYS-GM101 gene therapy in patients with GM1 gangliosidosis: Results of a phase I/II open-label clinical trial | |
| Precilla D’Souza National Human Genome Research Institute, National Institutes of Health Bethesda, MD, United States | Intravenous delivery of AAV9-GLB1 gene therapy for GM1 gangliosidosis: An interim analysis | |
| Carolina Fischinger Moura de Souza Hospital de Clínicas de Porto Alegre Porto Alegre, Brazil | Interim results from the first-in-human intracisternal dosing of RGX-181 investigational AAV9 gene therapy in a child with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) | |
| Moderated Q&A | Hughes, Ghosh, D’Souza, Moura de Souza | |
| 11:30 AM | Break, Exhibits & Satellite Symposia | |
| 1:00 PM | Erin Huggins Duke University Durham, NC, United States | Experience with enzyme replacement therapy in children with late-onset Pompe disease diagnosed via newborn screening in the United States |
| Suresh Vijay Birmingham Children’s Hospital Birmingham, United Kingdom | Survival achieved in infants with rapidly progressive LAL-D via sebelipase alfa ERT: Results from the International LAL-D Registry | |
| Roberto Giugliani Federal University of Rio Grande do Sul Porto Alegre, Brazil | Efficacy and safety data (52-week) from a phase 1/2 trial and extension study of JR-171 (lepunafusp alfa) used in enzyme replacement therapy for patients with MPS I | |
| Motomichi Kosuga National Center for Child Health and Development Tokyo, Japan | Efficacy and safety of combination of HSCT & ICV ERT for neuropathic mucopolysaccharidosis type II | |
| Moderated Q&A | Huggins, Vijay, Giugliani, Kosuga | |
| 2:00 PM | Manisha Balwani Icahn School of Medicine at Mount Sinai New York, NY, United States | Age-specific risk of Parkinson disease and Parkinsonian syndrome in patients with Gaucher disease type 1: Real-world evidence from the International Collaborative Gaucher Group Gaucher Registry |
| Caroline Aimee Hastings UCSF Benioff Children’s Hospital Oakland Oakland, CA, United States | Transport®NPC: open phase 3 global trial of intravenous hydroxy-propyl-beta-cyclodextrin in patients with Niemann-Pick disease type C1 (NPC1) | |
| Troy Lund University of Minnesota Minneapolis, MN, United States | Changes in CSF GAG after intravenous enzyme replacement therapy | |
| Antonio Pisani University Federico II Naples, Italy | Clinical outcomes in patients switching from agalsidase beta to migalastat: A Fabry Registry analysis | |
| Moderated Q&A | Balwani, Hastings, Lund, Pisani | |
| 3:00 PM | Industry Expert Theater | |
| 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 fifth 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 CE credit, Commercial Interests were not eligible for ACCME accreditation. The Contemporary Forum allows commercial interests to present their work to the WORLDSymposium audience, in this non-CE 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 2024 program (PDF 200KB).
Contemporary Forum
Co-Chairs: PJ Brooks, Nishitha Pillai, Uma Ramaswami
| 6:15 AM | Satellite Symposia | |
| 7:30 AM | Chester B. Whitley University of Minnesota Minneapolis, MN, United States | Welcome and New Treatment Awards |
| 8:00 AM | Christina Ohnsman REGENXBIO Inc. Rockville, MD, United States | RGX-381: Interim results from the first-in-human clinical trial of an investigational gene therapy for the treatment of ocular manifestations of CLN2 Batten disease |
| Shyam Ramachandran Sanofi Waltham, MA, United States | AAV-ARSA mediated gene replacement for the treatment of metachromatic leukodystrophy | |
| Kathleen E. Meyer Sangamo Therapeutics Brisbane, CA, United States | A 3-month gene therapy single-dose IV administration pharmacology and safety study with ST-920 (isaralgagene civaparvovec) for Fabry disease in mice | |
| Michael R. DiGruccio M6P Therapeutics St. Louis, MO, United States | Hyperactive GlcNAc-1-Phosphotransferase (S1S3 PTase) dramatically increases M6P levels on lysosomal enzymes for substantially improved receptor binding and cellular uptake | |
| Moderated Q&A | Ohnsman, Ramachandran, Meyer, DiGruccio | |
| 9:00 AM | Dongkyu Jin Novel Pharma Inc Seoul, Republic of Korea | A phase III clinical trial of GC1111 as an enzyme replacement therapy in previously untreated mucopolysaccharidosis type II (Hunter syndrome) patients: A double-blind, randomized, active-controlled (part 1) and open-labeled, historical placebo-controlled (part 2) study |
| Franklin Johnson Amicus Therapeutics, Inc. Princeton, NJ, United States | Trial in progress: An open-label study (AT1001-025) to evaluate the safety and pharmacokinetics of migalastat in patients with Fabry disease and amenable GLA variants and severe renal impairment or end-stage renal disease treated with hemodialysis | |
| Taylor Fields IntraBio Oxford, United Kingdom | Results of a phase III, randomized, placebo-controlled crossover trial with N-acetyl-L-leucine for Niemann-Pick disease type C | |
| Tarekegn Gerberhiwot University of Birmingham Birmingham, United Kingdom | Investigating the role of miglustat in the management of a patient with Tangier disease: An n-of-1 study with alternating periods of intervention and control | |
| Moderated Q&A | Jin, Johnson, Fields, Gerberhiwot | |
| 10:00 AM | Break & Exhibits | |
| 10:30 AM | Stuart Gaffney Chiesi Global Rare Diseases Glasgow, United Kingdom | Medical education needs to improve diagnosis of Fabry disease in the UK |
| Ashley Volz BioMarin Pharmaceutical Inc. Novato, CA, United States | Skeletal dysplasia gene panel with integrated enzyme follow-up for the diagnosis of lysosomal disorders: MPS IVA case series | |
| Vanessa Rangel Miller Ultragenyx Pharmaceutical Inc. Novato, CA, United States | Parallel biochemical and genetic testing informs a timely and accurate diagnosis of MPS VII: Findings from 5 years of sponsored testing programs | |
| Raymond Y. Wang Children’s Hospital of Orange County Orange, CA, United States | First in-human, intracisternal dosing of RGX-111, an investigational AAV gene therapy, for a 21-month-old child with mucopolysaccharidosis type I (MPS I): 3.5 year follow-up | |
| Moderated Q&A | Gaffney, Volz, Rangel Miller, Wang | |
| 11:30 AM | Break, Exhibits & Satellite Symposia | |
| 1:00 PM | R. Scott McIvor Immusoft Corporation Seattle, WA, United States | First-in-human clinical trial of genetically engineered B cells: Application to the treatment of mucopolysaccharidosis type I |
| Shababa T. Masoud Denali Therapeutics South San Francisco, CA, United States | ETV:SGSH, a brain-penetrant enzyme transport vehicle for SGSH, improves lysosomal and microglial morphology, degeneration and cognitive behavior in MPS IIIA mice | |
| Atsushi Imakiire JCR Pharmaceuticals Co., Ltd. Kobe, Japan | Recovery of retinal function in MPS II mice by treatment with pabinafusp alfa | |
| Monika Musial-Siwek Be Biopharma Cambridge, MA, United States | Development of an ex vivo precision gene engineered B cell medicine that produces highly active and sustained levels of acid sphingomyelinase for the treatment of Neimann-Pick disease | |
| Moderated Q&A | McIvor, Masoud, Imakiire, Musial-Siwek | |
| 2:00 PM | Dustin Armstrong Parasail LLC Quincy, MA, United States | A clinical candidate (VAL-1221) capable of treating multiple glycogen storage diseases including Lafora and other neurological polyglucosan disorders |
| Arjan van der Flier Sanofi Cambridge, MA, United States | Anti-human-TfR-GAA efficiently clears CNS and muscle glycogen in a translatable hTfR-KI/Pompe disease mouse model | |
| Christian Argueta Takeda Pharmaceuticals Americas, Inc. Cambridge, MA, United States | Baseline levels of neurofilament light chain in the cerebrospinal fluid correlate with clinical outcomes in patients with MPS II from a phase 2/3 clinical trial (NCT02055118) and extension study (NCT02412787) of intrathecal idursulfase | |
| Michael H. Gelb University of Washington Seattle, WA, United States | Second-tier glycosaminoglycan analysis in dried blood spots by the endogenous non-reducing end method provides the best approach for reducing false positives in newborn screening of all sub-types of mucopolysaccharidoses | |
| Moderated Q&A | Armstrong, van der Flier, Argueta, Gelb | |
| 3:00 PM | Industry Expert Theater | |
| Poster Session | Exhibit Hall | |
| 5:15 PM | Satellite Symposia |
Toward bringing the most recent research to the platform of WORLDSymposium 2024, after the late-breaking abstract submissions closed on December 1, 2023, 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 2024 meeting. Download the WORLDSymposium 2024 program (PDF 200KB).
Late-Breaking Science
Co-Chairs: Rebecca Ahrens-Nicklas, Elizabeth Braunlin, Roberto Giugliani
| 8:00 AM | Krystyna Rytel National Institutes of Health Bethesda, MD, United States | Multi-omic analysis of iPSC-derived neurons from pairs of siblings with Gaucher disease discordant for Parkinson disease |
| Beatriz Guzman Gain Therapeutics Lugano, Switzerland | GT-02287, a clinical stage GCase enhancer, displays neuroprotection and restores motor function in preclinical models of Parkinson disease following delayed administration | |
| Ewa Ziólkowska Washington University School of Medicine in St. Louis St. Louis, MO, United States | Gene therapy treats the neuromuscular consequences of CLN3 deficiency in mice | |
| Xiangli Zhao Yale University School of Medicine New Haven, CT, United States | Blockage of C5a/C5aR1 signaling neutralizes the aggravating effects of progranulin deficiency in Gaucher disease | |
| Moderated Q&A | Rytel, Guzman, Ziólkowska, Zhao | |
| 9:00 AM | Mark Sands Washington University School of Medicine St. Louis, MO, United States | Haploinsufficiency of lysosomal enzymes and Alzheimer’s disease |
| Shunji Tomatsu Nemours Children’s Health Wilmington, DE, United States | Preclinical studies of AAV vectors with tissue-specific, tandem, and ubiquitous promoters for mucopolysaccharidosis type IVA mice | |
| John Mitchell McGill University Health Centre Montreal, QC, Canada | Co-developing The Canadian MPS Registry: A longitudinal rare disease patient registry | |
| Petra Oliva ARCHIMEDlife Vienna, Austria | Results of prospective newborn screening for metachromatic leukodystrophy in Germany and Austria | |
| Moderated Q&A | Sands, Tomatsu, Mitchell, Oliva | |
| 10:00 AM | Break | |
| 10:15 AM | Heather Lau Ultragenyx Pharmaceutical Inc Novato, CA, United States | Reduction of heparan sulfate (HS) exposure in cerebrospinal fluid (CSF) correlates with improved long-term cognitive function in patients with mucopolysaccharidosis type IIIA (MPS IIIA) following treatment with UX111 gene therapy |
| Maria Escolar Forge Biologics Grove City, OH, United States | Reklaim, a novel phase IB clinical trial of FBX101 (AAVrh10.galc) intravenously administered after UCBT for the treatment of infantile Krabbe disease | |
| Mark Thomas Royal Perth Hospital Perth, Australia | Phase 1/2 clinical trial evaluating 4D-310 in adults with Fabry disease cardiomyopathy: Interim analysis of cardiac and safety outcomes in patients with 10-32 months of follow-up | |
| Maria Acosta National Human Genome Research Institute Bethesda, MD, United States | Gains in neuronal tracks in GM1 gangliosidosis patients following intravenous gene therapy. Differential tractography a robust outcome measure for neurodegenerative disease | |
| Moderated Q&A | Lau, Escolar, Thomas, Acosta | |
| 11:15 AM | WORLDSymposium 2024 Adjourns |