WORLDSymposium™ 2018 Full Program on Lysosomal Diseases
| 8:30 – 12:00 | Council of Patient Advocates (COPA) | Lysosomal Disease Network’s (LDN) Workshop WORLD Translation and WORLD Activation |
| 1:00 – 5:00 | Pre-Conference Symposium | Emerging Trends: State of the Art for Experts (Registration required) |
| 5:15 | Awards Ceremony | Young Investigator Awards and New Treatment Award Presented. Harbor Foyer. |
| 5:30 – 6:30 | Opening Reception | Harbor Ballroom (Exhibit Hall) – Open to all attendees |
| 6:30 | Satellite Symposium |
Basic and bench research. Following the presentation of the Award for Innovation and Accomplishment in lysosomal disease research, presentations in the morning and afternoon sessions discussed innovations in technology and how they can be applied to early diagnosis for lysosomal conditions, progress in gene therapy, and exploitation of differences at the cellular level that may indicate early disease state. After the presentations ended at 4:30 PM, the evening poster sessions opened. Abstracts from over 175 researchers were presented on Day 1, primarily focused on basic and translational research. Download the WORLDSymposium 2018 program (PDF 175KB).
Basic Science I
Co-Chairs: Walter Low & Danuta Krotoski
| 6:30 | Satellite Symposia | |
| 7:45 | Chester B. Whitley University of Minnesota Minneapolis, MN, United States | Welcome & Innovation Award Announcement |
| 7:55 | Mark Haskins University of Pennsylvania Philadelphia, PA, United States | “…standing on the shoulders of Giants” |
| 8:30 | Patricia Dickson Harbor-UCLA/LABioMed Torrance, CA, United States | Neuroimaging and neuropathology reveal progressively abnormal white matter and cerebrospinal fluid volume in MPS I dogs |
| 8:45 | Roselena S. Schuh Universidade Federal do Rio Grande do Sul Porto Alegre, Brazil | Intravenous and intranasal genome editing using the CRISPR/Cas9 system leads to long-term improvements in MPS I mice |
| 9:00 | Jillian R. Brown TEGA Therapeutics La Jolla, CA, United States | Guanidinylated neomycin conjugation enhances intranasal enzyme replacement in the brain |
| 9:15 | Yanyan Peng Cincinnati Children’s Hospital Medical Center Cincinnati, OH, United States | Evaluation of a novel, non-invasive iPSC based cell therapy for neuronopathic Gaucher disease |
| 9:30 | Jenny Serra-Vinardell National Institutes of Health Bethesda, MD, United States | Patient-derived Gaucher induced pluripotent stem cells as a tool to understand common complex disorders |
| 9:45 | Break and Exhibits | |
| 10:15 | Mia Horowitz Tel Aviv University Ramat Aviv, Israel | The contribution of mutant glucocerebrosidase to the aggregation of alpha synuclein |
| 10:30 | Simon Heales Great Ormond Street Hospital/UCL London, United Kingdom | Lysosomal glucocerebrosidase inhibition is associated with perturbed dopamine turnover: a mechanistic insight into the link between Gaucher and Parkinson’s disease |
| 10:45 | Benjamin McMahon National Institutes of Health Bethesda, MD, United States | The importance of astrocytes in the pathophysiology of GBA1-associated Parkinson disease |
| 11:00 | Nadav I. Weinstock SUNY Buffalo Buffalo, NY, United States | GALC ablation in Schwann cells produces a demyelinating peripheral neuropathy characterized by psychosine formation but lacking globoid cells |
| 11:15 | Brian W. Bigger University of Manchester Manchester, United Kingdom | Interleukin-1 plays a central role in behaviour abnormalities in mucopolysaccharidosis type III (MPS III) |
| 11:30 | Chelsee T. Sauni Phoenix Nest, Inc Brooklyn, NY, United States | Pilot enzyme replacement therapy with recombinant human glucosamine (N-acetyl)-6-sulfatase in mucopolysaccharidosis type IIID mouse model |
| 11:45 | Lunch – On Own or Satellite Symposia; Exhibit Hall Open |
Basic Science II
Co-Chairs: Brian Bigger & Jill Morris
| 1:00 | Alexey V. Pshezhetsky CHU Ste-Justine, University of Montreal Montreal, QC, Canada | Chaperone therapy for mucopolysaccharidosis type IIIC |
| 1:15 | Sharon Byers SA Pathology (WCH site) Nth Adelaide, Australia | Chondrogenesis and osteogenesis are delayed by MPS IVA keratan sulphate but not normal keratan sulphate |
| 1:30 | Fabian PS. Yu University of Toronto Toronto, ON, Canada | Ocular pathology and visual impairment in a mouse model of acid ceramidase deficiency |
| 1:45 | Salvatore Molino Medical College of Wisconsin Milwaukee, WI, United States | Hepatocellular dysfunction and gene expression changes in the acid ceramidase deficient mouse |
| 2:00 | Daesung Shin SUNY Buffalo Buffalo, NY, United States | Temporal Galc deletion reveals a critical vulnerable period in the pathogenesis of Krabbe leukodystrophy |
| 2:15 | Rebecca Ahrens-Nicklas The Children’s Hospital of Philadelphia Philadelphia, PA, United States | Neuronal network dysfunction in juvenile neuronal lipofuscinosis |
| 2:30 | Hemanth R. Nelvagal Los Angeles Biomedical Research Institute, Harbor-UCLA Medical Center and David Geffen School of Medicine, University of California, Los Angeles Torrance, CA, United States | Early gait abnormalities relate to brainstem and spinal cord pathology in CLN1 disease |
| 2:45 | Break and Exhibits | |
| 3:15 | Zhirui Jiang The University of Adelaide Adelaide, Australia | MPS VII mice display reduced circulating IGF1 and disrupted cell cycle progression in the growth plate |
| 3:30 | Christina R. Mikulka Washington University School of Medicine St. Louis, MO, United States | Eliminating cross-correction allows for cell-specific expression of the lysosomal enzyme galactocerebrosidase in the twitcher mouse |
| 3:45 | Murtaza S. Nagree University of Toronto Toronto, ON, Canada | In vivo enrichment of transduced cells to enhance gene therapy for Fabry disease |
| 4:00 | Daphne Chen University of North Carolina, Chapel Hill Chapel Hill, NC, United States | Identification of novel AAV capsids for treatment of lysosomal disorders |
| 4:15 | Li Ou University of Minnesota Minneapolis, MN, United States | Metabolomics profiling of mice and patients with Sandhoff disease to identify biomarkers |
| 4:30 | Poster Reception in the Exhibit Hall | Poster presenters with First Author Last Name starting with A-L displayed |
| 6:30 | Satellite Symposium |
Translational research. The second day of the meeting turned to the challenge of moving laboratory discoveries to therapy, the important hurdles of translational research. Some broad topics of discussion included modulation of CNS affects of disease, how to increase the efficacy of therapeutic modalities, and genotype/phenotype correlations. After the presentations ended at 4:30 PM on Day 2, a second set of poster abstracts were presented by more than 200 additional researchers, featuring cutting-edge translational and clinical research areas. Download the WORLDSymposium 2018 program (PDF 175KB).
Translational Research I
Co-Chairs: Dan Tagle & Scott McIvor
| 6:30 | Satellite Symposia | |
| 7:45 | Chester B. Whitley University of Minnesota Minneapolis, MN, United States | Welcome and Patient Advocate Leadership Award |
| 8:00 | Petra Kaufmann National Institutes of Health Bethesda, MD, United States | Keynote Address: NCATS Rare Diseases Research Update 2018 |
| 8:30 | Natalia Gomez-Ospina Lucile Packard Children’s Hospital Stanford, CA, United States | Engineering blood stem cells for autologous transplants for lysosomal diseases: correction of mucopolysaccharidosis type I using genome-edited hematopoietic stem and progenitor cells |
| 8:45 | Yewande E.O. Pearse Los Angeles Biomedical Research Institute at Harbour-UCLA Torrance, CA, United States | Neural stem cells provide continuous enzyme replacement therapy and reduce neuropathology in Sanfilippo syndrome type B mice |
| 9:00 | Stuart M. Ellison University of Manchester Manchester, United Kingdom | Pre-clinical safety and efficacy evaluation of GMP lentiviral vector in preparation for a clinical trial of hematopoietic stem cell gene therapy in MPS IIIA |
| 9:15 | Manuela Corti University of Florida Gainesville, FL, United States | Enabling redosing of AAV by immune management in Pompe disease: preclinical to clinical studies |
| 9:30 | Shaun Brothers University of Miami Miller School of Medicine Miami, FL, United States | Novel small molecule therapy development for MPS I |
| 9:45 | Break and Exhibits | |
| 10:15 | Nina Raben National Institutes of Health Bethesda, MD, United States | A major advance in the search for more effective therapy for Pompe disease |
| 10:30 | Iris Alroy Eloxx Phramaceuticals Waltham, MA, United States | Translational read-through of CTNS nonsense mutations and attenuation of CTNS nonsense-mediated mRNA decay by ELX-02 treatment |
| 10:45 | Eugeni V. Entchev Inventiva 21121 Daix, France | Odiparcil is a promising substrate reduction therapy in MPS VI murine model |
| 11:00 | C. Ronald Scott University of Washington Seattle, WA, United States | A high performance assay for the detection of MPS disorders, MLD, and CTX, from newborn blood spots |
| 11:15 | Anuj Chauhan University of Florida Gainesville, FL, United States | Contact lens based therapy for ocular cystinosis |
| 11:30 | Yedda Li Washington University in St. Louis Saint Louis, MO, United States | Combination therapy increases lifespan and improves clinicobehavioral performance in the murine model of globoid cell leukodystrophy |
| 11:45 | Lunch – On Own or Satellite Symposia; Exhibit Hall Open |
Translational Research II
Co-Chairs: Rashmi Gopal-Srivastava & James Cloyd
| 1:00 | Thomas Wechsler Sangamo Therapeutics Richmond, CA, United States | ZFN-mediated in vivo genome editing of hepatocytes results in phenotypic correction in murine MPS I and MPS II models |
| 1:15 | Silvere Pagant Icahn School of Medicine at Mount Sinai New York, NY, United States | ZFN-mediated in vivo genome editing results in therapeutic levels of α-galactosidase A and effective substrate reduction in Fabry knockout mice |
| 1:30 | Cristin Davidson Albert Einstein College of Medicine Bronx, NY, United States | Gene therapy for the treatment of Niemann-Pick disease type C1: comparison of AAV9 to a novel serotype, AAV-PHP.B |
| 1:45 | Ying Sun Cincinnati Children’s Hospital Medical Center Cincinnati, OH, United States | Systemic delivery of acid β-glucosidase by SapC-based nanovesicles for neuronopathic Gaucher disease therapy |
| 2:00 | Anita Grover BioMarin Pharmaceutical Inc Novato, CA, United States | Translational dose-response and frequency scaling for BMN 250 administered via the intracerebroventricular route: predicting a clinically effective dosing regimen from animal models of disease for the treatment of Sanfilippo syndrome type B |
| 2:15 | Ai Yin Liao University of Manchester Manchester, United Kingdom | Induction of immune tolerance to enzyme replacement therapy in mucopolysaccharidosis type I |
| 2:30 | Derek Kelaita ArmaGen Inc. Calabasas, CA, United States | Platform technology for treatment of the brain in lysosomal disorders |
| 2:45 | Break and Exhibits | |
| 3:15 | Hiroyuki Sonoda JCR Pharmaceuticals Kobe, Japan | Blood-brain barrier-penetrating iduronate-2-sulfatase reduces brain glycosaminoglycans in mouse model of mucopolysaccharidosis type II |
| 3:30 | David G. Warnock University of Alabama Birmingham, AL, United States | Enhanced pharmacokinetics profile of pegunigalsidase alfa (PRX-102) supports once-monthly 2mg/kg dosing for the treatment of Fabry disease |
| 3:45 | Andrew Baik Regeneron Pharmaceuticals Tarrytown, NY, United States | Next-generation antibody-guided enzyme replacement therapy in Pompe disease mice |
| 4:00 | Kelly George Sanofi Genzyme Framingham, MA, United States | Comprehensive exploratory study to identify novel biomarkers of Pompe disease |
| 4:15 | John Sinclair BioMarin Pharmaceutical Inc. Novato, CA, United States | Intravitreal enzyme replacement therapy attenuates retinal disease progression in a canine model of neuronal ceroid lipofuscinosis type 2 (CLN2) |
| 4:30 | Poster Reception in the Exhibit Hall | Poster presenters with First Author Last Name starting with M-Z and all Late-Breaking abstracts displayed |
| 6:30 | Satellite Symposium |
Clinical research. The entire third day of WORLDSymposium was committed to presentations of results from clinical trials, which in most cases is the actual application of new agents in humans affected by these conditions. Day 3 also included presentations related to re-thinking the definition of biomarkers for lysosomal disease. Download the WORLDSymposium 2018 program (PDF 175KB).
Clinical Trials I
Co-Chairs: Michael Mauer & Ellen Sidransky
| 6:30 | Satellite Symposium | |
| 7:40 | Chester B. Whitley University of Minnesota Minneapolis, MN, United States | Welcome and Announcements |
| 7:45 | R. Rodney Howell University of Miami Miami, FL, United States | Keynote Address: What innovation has changed medical care more than newborn screening? |
| 8:15 | Amy Gaviglio Minnesota Department of Health Minneapolis, MN, United States | State of national implementation for lysosomal diseases |
| 8:30 | Stacey A. Wong Invitae San Francisco, CA, United States | Copy number variation analysis by next-generation sequencing enhances molecular diagnostic yield of lysosomal diseases |
| 8:45 | Lynda E. Polgreen LA BioMed at Harbor-UCLA Torrance, CA, United States | Open-label, single arm, pilot study of intravenous laronidase following allogeneic transplantation for Hurler syndrome |
| 9:00 | Chester B. Whitley University of Minnesota Minneapolis, MN, United States | Final results of the first-in-human open-label study of intravenous SBC-103 in children with mucopolysaccharidosis type IIIB |
| 9:15 | Nicole Muschol University Medical Center Hamburg-Eppendorf Hamburg, Germany | ICV-administered BMN 250 (NAGLU-IGF2) is well tolerated and reduces heparan sulfate accumulation in the CNS of subjects with Sanfilippo syndrome type B (MPS IIIB) |
| 9:30 | Angela Schulz University Medical Center Hamburg-Eppendorf Hamburg, Germany | Long-term safety and efficacy of intracerebroventricular enzyme replacement therapy with cerliponase alfa in children with CLN2 disease: two year results from an ongoing multicenter extension study |
| 9:45 | Break | |
| 10:15 | Joseph Muenzer University of North Carolina at Chapel Hill Chapel Hill, NC, United States | Efficacy and safety of intrathecal idursulfase in pediatric patients with mucopolysaccharidosis type II and early cognitive impairment: design and methods of a controlled, randomized, phase II/III multicenter study |
| 10:30 | Roberto Giugliani Hospital de Clínicas de Porto Alegre and UFRGS Porto Alegre, Brazil | Safety and clinical efficacy of AGT-181, a brain penetrating human insulin receptor antibody-iduronidase fusion protein, in a 26-week study with pediatric patients with mucopolysaccharidosis type I |
| 10:45 | Caroline Sevin Neuropediatrics Unit, Bicêtre Hospital Le Kremlin-Bicetre, France | Intracerebral gene therapy in children with metachromatic leukodystrophy: results of a phase I/II trial |
| 11:00 | Kevin M. Flanigan Center for Gene Therapy, Nationwide Children’s Hospital Columbus, OH, United States | A phase 1/2 clinical trial of systemic gene transfer of scAAV9.U1a.HSGSH for MPS IIIA: safety, tolerability, and preliminary evidence of biopotency |
| 11:15 | Sophie Olivier Lysogene Paris, France | Five years of clinical data in a direct to CNS gene therapy trial to address the severe lethal neurological manifestations of MPS IIIA |
| 11:30 | Torayuki Okuyama National Center for Child Health and Development Tokyo, Japan | Novel blood-brain barrier delivery system to treat CNS in MPS II – first clinical trial by anti-transferrin receptor antibody fused enzyme therapy |
| 11:45 | Lunch – On Own or Satellite Symposia |
Clinical Trials II
Co-Chairs: Steve Groft & Uma Ramaswami
| 1:00 | Raymond Wang Children’s Hospital of Orange County Orange, CA, United States | Sustained efficacy and safety of vestronidase alfa (rhGUS) enzyme replacement therapy in patients with MPS VII |
| 1:15 | Franklin K. Johnson Amicus Therapeutics Cranbury, NJ, United States | First-in-human preliminary pharmacokinetic data on a novel recombinant acid α-glucosidase, ATB200, co-administered with the pharmacological chaperone, AT2221, in patients with late-onset Pompe disease |
| 1:30 | Paul Harmatz Children’s Hospital Oakland Oakland, CA, United States | Global treatment responder analysis demonstrates clinically relevant effect of velmanase alfa long term enzyme replacement therapy for alpha mannosidosis, in a phase III randomized placebo controlled trial |
| 1:45 | Caren Swift Baylor Research Institute Dallas, TX, United States | Ten years of migalastat treatment in a patient with Fabry disease: a case report |
| 2:00 | Julia B. Hennermann University Medical Center Mainz Mainz, Germany | Pharmacokinetics, pharmacodynamics, and safety of moss agalactosidase A in patients with Fabry disease |
| 2:15 | Derralynn Hughes Royal Free London NHS FT & UC London, United Kingdom | Clinical outcomes in Morquio syndrome type A treated with elosulfase alfa: results from the managed access agreement in England |
| 2:30 | Simon A. Jones Central Manchester University Hospitals NHS Foundation Trust St Mary’s Hospital Manchester, United Kingdom | Effect of sebelipase alfa on survival to 3 years of age and liver function in infants with rapidly progressive lysosomal acid lipase deficiency: results from two studies |
| 2:45 | Break | |
| 3:15 | Livia D. Paskulin Universidade Federal do Rio Grande do Sul Porto Alegre, Brazil | Taliglucerase-alpha and Gaucher disease type 1: a five-year follow-up |
| 3:30 | David J. Kuter Massachusetts General Hospital Boston, MA, United States | Open-label expanded access study of taliglucerase alfa in patients with Gaucher disease requiring enzyme replacement therapy |
| 3:45 | Joel Charrow Northwestern University Feinberg School of Medicine, Ann and Robert H. Lurie Children’s Hospital of Chicago Chicago, IL, United States | Long-term stability in randomized and non-randomized patients in the phase 3 randomized, double-blind EDGE trial of once- versus twice-daily dosing of eliglustat in patients with Gaucher disease type 1 |
| 4:00 | Heather A. Lau New York University New York, NY, United States | Long-term treatment response based on severity of Gaucher disease type 1 at baseline after 8 years of treatment with oral eliglustat: final efficacy and safety results from a phase 2 clinical trial in treatment-naïve adult patients |
| 4:15 | M. Judith Peterschmitt Sanofi Genzyme Cambridge, MA, United States | Evaluation of glucosyl ceramide synthase (GCS) inhibition for GBA-associated Parkinson’s disease |
| 4:30 | Networking Reception | Open to All Attendees; Seaport Foyer |
*This was a preliminary program only. ALL times and speakers were subject to change. Updates were made weekly.