WORLDSymposium™ 2016 Full Program on Lysosomal Diseases
| 1:00 – 5:00 | Pre-Conference Symposium | Emerging Trends: State of the Art for Experts (Registration required) |
| 5:15 | Handprints Across America | Please join other WORLDSymposium attendees in the Palm Foyer for a Rare Disease Day Handprints Across America photo from WORLDSymposium. |
| 6:00 – 8:00 | Satellite Symposium Supported by PTC Therapeutics | MPS I: New horizons and opportunities for change |
Basic and bench research. Following the opening remarks, presentations in the morning and afternoon sessions will discuss 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. On Tuesday, the noon hour is reserved for a meeting with the WORLDSymposia Council of Patient Advocates (COPA)™ that focuses on patient involvement in research planning and subject recruitment. Download the WORLDSymposium 2016 program (PDF 275KB).
Basic Science I
Co-Chairs: Walter Low, Danuta Krotoski, Gregory Grabowski
| 6:30 | Satellite Symposium Supported by BioMarin Pharmaceutical Inc. | Optimizing Treatment in Morquio A: Capturing multi-domain impact through patient-directed outcomes |
| 7:50 | Chester B. Whitley University of Minnesota Minneapolis, MN, United States | Welcome and Opening Remarks |
| 8:00 | Emil Kakkis Ultragenyx Pharmaceutical Novato, CA, United States | WORLDSymposium 2016 Award for Innovation and Accomplishment |
| 8:30 | Chrissa Dwyer University of California San Diego La Jolla, CA, United States | Lysosomal degradation of heparan sulfate is required for normal development of the neural circuitry |
| 8:45 | Camila de Aragao CHU Sainte-Justine Mother and Child University Hospital Center Montreal, QC, Canada | Synaptic dysfunction in Sanfilippo syndrome type C |
| 9:00 | Vincent Puy CHU Amiens, Centre de Biologie Humaine Amiens, France | Alteration of cerebral iron metabolism in Sanfilippo syndrome |
| 9:15 | S. Pablo Sardi Genzyme, a Sanofi company Framingham, MA, United States | Glucosylceramide synthase inhibition reduces α-synuclein pathology and improves cognition in murine models of synucleinopathy |
| 9:30 | Mia Horowitz Tel Aviv UniversityRamat Aviv, Israel | Presence of mutant GBA allele leads to ER stress and development of Parkinson’s disease |
| 9:45 | Yvonne L. Latour National Institutes of Health Bethesda, MD, United States | Development of isogenic human cerebral organoids with beta-galactosidase deficiency |
| 10:00 | Break & Exhibits | |
| 10:15 | Manoj K. Pandey Cincinnati Children’s Hospital Medical Center Cincinnati, OH, United States | Immune cells attack and neurodegeneration in Gaucher disease |
| 10:30 | Debora Bertholdo DAPI – Diagnóstico Avançado por Imagem Curitiba, Brazil | Structural changes in the brain of patients with Gaucher disease |
| 10:45 | Volkan Seyrantepe Izmir Institute of Technology Izmir, Turkey | Deletion of sialidase NEU3 causes progressive neurodegeneration in Tay-Sachs mice |
| 11:00 | Andreas Schaaf Greenovation Biotech GmbH Freiburg, Germany | Moss−aGal: preclinical evaluation of a plant made enzyme replacement for Fabry disease |
| 11:15 | Jin-Song Shen Baylor Research Institute Dallas, TX, United States | Sortilin expression and uptake of α-galactosidase A: a general mechanism of endocytosis in Fabry disease cell types |
| 11:30 | Lunch Break | Council of Patient Advocates (COPA) Lunch Meeting or Lunch Satellite Symposium Non-immune hydrops fetalis (NIHF) in lysosomal storage diseases Supported by Ultragenyx Pharmaceutical Inc. or Lunch on Your Own |
Basic Science II
Co-Chairs: Scott McIvor, Rashmi Gopal-Srivastava
| 1:00 | Takahiro Tsukimura Meiji Pharmaceutical University Kiyose, Japan | Anti-α-galactosidase A antibodies and serum-mediated inhibition in Fabry disease |
| 1:15 | Derrick T. Deming University of Massachusetts Amherst Amherst, MA, United States | The molecular basis of Pompe disease: crystal structure of acid alpha-glucosidase |
| 1:30 | Nina Raben National Institutes of Health Bethesda, MD, United States | Pompe disease: from pathophysiology to therapy and back again |
| 1:45 | Richard Steet University of Georgia Athens, GA, United States | Cathepsin-mediated alterations in TGF-β related signaling underlie the cartilage and bone defects associated with impaired lysosomal targeting |
| 2:00 | Zhirui Jiang The University of Adelaide Adelaide, Australia | Reduced chondrocyte proliferation and hypertrophy contribute to delayed endochondral bone formation in murine mucopolysaccharidosis VII |
| 2:15 | Alessandra d’Azzo St.Jude Children’s Research Hospital Memphis, TN, United States | Pathogenic cascade downstream of NEU1 regulated lysosomal exocytosis |
| 2:30 | Jonathan H. LeBowitz BioMarin Novato, CA, United States | Utilizing activity assays and population-wide allele frequencies to assess the contribution of novel mutations in NAGLU to MPS IIIB incidence |
| 2:45 | Break & Exhibits | |
| 3:00 | Maria Fuller SA Pathology North Adelaide, Australia | Manipulation of regional brain bis(monoacylglycero)phosphate in the MPS I mouse by dietary fatty acid supplementation |
| 3:15 | Kanut Laoharawee University of Minnesota Minneapolis, MN, United States | AAV9 mediated correction of iduronate-2-sulfatase deficiency in the central nervous system of mucopolysaccharidosis type II mice |
| 3:30 | Kanagaraj Subramanian The Scripps Research Institute La Jolla, CA, United States | Quantitative analysis of the proteome response to histone deacetylase inhibitor in Niemann-Pick disease |
| 3:45 | Li Ou Department of Pediatrics, University of Minnesota Minneapolis, MN, United States | ZFN-mediated correction of murine MPS I model by expression of the human IDUA cDNA from the albumin “safe harbor” locus |
| 4:00 | Richie Khanna Amicus Therapeutics Cranbury, NJ, United States | Co-administration of the pharmacological chaperone AT2221 with a proprietary recombinant human acid alfa-glucosidase leads to greater plasma exposure and substrate reduction compared to alglucosidase alfa |
| 4:15 | Mustafa A. Kamani University Health Network Toronto, ON, Canada | Reduced glucocerebrosidase activity improves acid ceramidase deficient mice |
| 4:30 | Poster Reception & Presentation | |
| 6:30 | Satellite Symposium Supported by Amicus Therapeutics | The Many Faces of Lysosomal Disease: A Global Perspective |
Translational research. The second day of the meeting turns to the challenge of moving laboratory discoveries to therapy, the important hurdles of translational research. Some broad topics of discussion include modulation of CNS affects of disease, how to increase the efficacy of therapeutic modalities, and genotype/phenotype correlations. Download the WORLDSymposium 2016 program (PDF 275KB).
Translational Research I
Co-Chairs: Jill Morris, Raphael Schiffmann
| 6:30 | Satellite Symposium Supported by Shire | Discovery and Research Platforms in Rare Disease |
| 7:50 | Chester B. Whitley University of Minnesota Minneapolis, MN, United States | Announcements |
| 8:00 | Christopher P. Austin National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH). | Keynote Speaker: Catalyzing Translational Innovation |
| 8:30 | Lalitha Belur University of Minnesota Minneapolis, MN, United States | Intranasal gene delivery of AAV9 iduronidase: a non-invasive and effective gene therapy approach for prevention of neurologic disease in a murine model of mucopolysaccharidosis type I |
| 8:45 | Tammy Kielian University of Nebraska Medical Center Omaha, NE, United States | Adeno-associated virus 9 gene therapy for juvenile neuronal ceroid lipofuscinosis |
| 9:00 | Walter L. Acosta BioStrategies LLC State University, AR, United States | Lectin-mediated delivery of α-L-iduronidase: a novel approach for MPS I enzyme replacement therapy |
| 9:15 | Elma Aflaki NIH/NHGRI Bethesda, MD, United States | iPSC-derived dopaminergic neurons from patients with Gaucher disease and Parkinsonism demonstrate the potential of a new glucocerebrosidase chaperone |
| 9:30 | Allison Bradbury University of Pennsylvania Philadelphia, PA, United States | Natural history study and preliminary assessment of therapies in canine globoid cell leukodystrophy |
| 9:45 | Haiyan Fu Research Institute at Nationwide Children’s Hospital Columbus, OH, United States | Functional benefits of systemic rAAV9-HIDS gene delivery in MPS II mouse model |
| 10:00 | Break & Exhibits | |
| 10:15 | Behzad Najafian University of Washington Seattle, WA, United States | Podocyte globotriaosylceramide (GL-3) content in male adult patients with Fabry disease reduces following 6-12 months of treatment with migalastat |
| 10:30 | Baodong Sun Duke University School of Medicine Durham, NC, United States | New perspectives for ERT in Pompe disease: extending the action of the enzyme to cytosolic targets |
| 10:45 | Mark Tarnopolsky McMaster University Hamilton, ON, Canada | Exosome-mRNA and exosome-protein therapy for Niemann-Pick disease type C |
| 11:00 | Rasa Ghaffarian University of Maryland College Park, MD, United States | ICAM-1 targeting by direct conjugation enhances gastrointestinal transcytosis and encapsulation enables gastric protection and controlled released for oral enzyme delivery |
| 11:15 | Sang-oh Han Duke University Medical Center Durham, NC, United States | Minimum effective dose for immune tolerance induction with an adeno-associated virus vector in Pompe disease |
| 11:30 | Lunch Break | Lunch Satellite Symposium From diagnosis to treatment: a multidisciplinary approach for the management of Type I Gaucher disease Supported by Shire International or Lunch on Your Own |
Translational Research II
Co-Chairs: Danilo Tagle, Dolan Sondhi
| 1:00 | Rachel L. Manthe University of Maryland College Park, MD, United States | Enhanced lysosomal enzyme delivery across the blood-brain barrier by modulating the valency of ICAM-1-targeted nanocarriers |
| 1:15 | Adeel Safdar McMaster University Hamilton, ON, Canada | Exosome-mRNA (EXERNA) therapy for Pompe disease |
| 1:30 | Heather L. Gray-Edwards Auburn University Auburn University, AL, United States | Long term survival after gene therapy in a feline model of Sandhoff disease |
| 1:45 | Alia Ahmed University of Minnesota Minneapolis, MN, United States | Association of physical symptom score (PSS) with age and cognitive measures in attenuated mucopolysaccharidosis types I, II and VI |
| 2:00 | Mika Aoyagi-Scharber BioMarin Pharmaceutical Inc. Novato, CA, United States | Time- and dose-dependent normalization of pathological lysosomal storage and biochemistry in the mucopolysaccharidosis ΙΙΙΒ (MPS ΙΙΙΒ, Sanfilippo Β) mouse model by intracerebroventricular enzyme replacement therapy with ΒΜΝ 250, a ΝAGLU-ΙGF2 fusion protein |
| 2:15 | Lauren C Boudewyn Albert Einstein College of Medicine Bronx, NY, United States | Assessment of n-butyl-deoxynojirimycin as a therapeutic option for mucolipidosis type IV |
| 2:30 | Russell DeKelver Sangamo BioSciences Richmond, CA, United States | ZFN-mediated in vivo genome editing results in supraphysiological levels of human iduronate 2-sulfatase and phenotypic correction in a murine MPS II model |
| 2:45 | Break & Exhibits | |
| 3:00 | Coy Heldermon University of Florida Gainesville, FL, United States | MRI findings reveal corollaries in brain pathology between murine and human MPS IIIB brains |
| 3:15 | Zoheb B. Kazi Duke University Durham, NC, United States | Prophylactic immune modulation in infantile Ρompe disease using low-dose methotrexate induction: a safe, inexpensive, widely accessible, and efficacious strategy |
| 3:30 | 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 |
| 3:45 | Aaron Meadows Research Institute at Nationwide Children’s Hospital Columbus, OH, United States | Functional correction of mucopolysaccharidosis I in adult mice by a systemic rAAV9-IDUA gene delivery |
| 4:00 | Angela Schulz University Medical Center Hamburg-Eppendorf, Hamburg, Germany | Intracerebroventricular cerliponase alfa (BMN 190) in children with CLN2 disease: Interim results from a phase 1/2, open-label, dose-escalation study |
| 4:15 | Gizely N. Andrade Albert Einstein College of Medicine Bronx, NY, United States | Multisensory processing in lysosomal disorders: a behavioral and high-density electrophysiology investigation in Niemann-Pick disease type C and cystinosis |
| 4:30 | Poster Reception & Presentation | |
| 6:30 | Satellite Symposium CME Satellite Sponsored by MedIQ. Supported by an educational grant from Sanofi Genzyme | How Early is Early? When to Start ERT and Other Considerations for Optimizing Treatment of Fabry Disease |
Clinical research. The entire third day is committed to presentations of results from clinical trials, in most cases, the actual application of new agents in humans affected by these conditions. Day 3 will also include presentations related to re-thinking the definition of biomarkers for lysosomal disease. Download the WORLDSymposium 2016 program (PDF 275KB).
Clinical Trials I
Co-Chairs: Stephen Groft, Elsa Shapiro
| 6:30 | Satellite Symposium Supported by BioMarin Pharmaceutical Inc. | Recognizing the signs of CLN2 disease – emerging evidence for a paradigm shift in CLN2 diagnosis |
| 7:50 | Chester B. Whitley University of Minnesota Minneapolis, MN, United States | Announcements |
| 8:00 | Barbara K. Burton Ann & Robert H. Lurie Children’s Hospital Chicago, IL, United States | Newborn screening for lysosomal diseases in Illinois |
| 8:15 | Renuka P. Limgala Lysosomal and Rare Disorders Research and Treatment Center Fairfax, VA, United States | Selective large scale screening for lysosomal disorders in minority groups shows higher incidence rates |
| 8:30 | Arunabha Ghosh St Mary’s Hospital Manchester, United Kingdom | IDUA mutational profile and genotype-phenotype correlations in mucopolysaccharidosis type I |
| 8:45 | Hernan Amartino Hospital Universitario Austral Buenos Aires, Argentina | New measure to assess severity of MPS II: the disease severity score |
| 9:00 | Nathan J. Rodgers University of Minnesota Minneapolis, MN, United States | Thirty year follow-up in Hurler syndrome after hematopoietic cell transplantation: the University of Minnesota experience |
| 9:15 | Christian J. Hendriksz Salford Royal Foundation NHS Trust Salford, United Kingdom | Impact of long-term elosulfase alfa treatment on pulmonary function in patients with Morquio syndrome type A |
| 9:30 | Paul R. Harmatz UCSF Benioff Children’s Hospital Oakland Oakland, CA, United States | Impact of elosulfase alfa in patients with Morquio syndrome type A who have limited ambulation: an open-label, phase 2 study |
| 9:45 | Deborah Elstein Shaare Zedek Medical Center, affiliated with the Hebrew University-Hadassah Medical School Jerusalem, Israel | Therapeutic goals and normal clinical values achieved within 4 years of initiating velaglucerase alfa in treatment-naïve patients with Gaucher disease in phase 3 studies |
| 10:00 | Break & Exhibits | |
| 10:15 | Timothy M. Cox University of Cambridge, Addenbrooke’s Hospital Cambridge, United Kingdom | Four-year follow-up from the ENCORE trial: a randomized, controlled, non-inferiority study comparing eliglustat to imiglucerase in patients with Gaucher disease type 1 stabilized on enzyme replacement therapy |
| 10:30 | Patrick B. Deegan Addenbrooke’s Hospital Cambridge, United Kingdom | Risk factors for fracture in imiglucerase-treated Gaucher disease type 1 patients in the ICGG Gaucher Registry |
| 10:45 | Magy Abdelwahab Cairo University Pediatric Hospital Cairo, Egypt | Long-term follow up and sudden unexpected death in Gaucher disease type 3 in Egypt |
| 11:00 | Raul Chertkoff Protalix BioTherapeutics Carmiel, Israel | Long-term efficacy and safety results of taliglucerase alfa through 5 years in adult treatment-naïve patients with Gaucher disease |
| 11:15 | Gerald Cox Sanofi Genzyme Cambridge, MA, United States | Functional performance in patients with late-onset Tay-Sachs and Sandhoff diseases |
| 11:30 | Lunch Break Supported by Sanofi Genzyme | Patients, exogenous enzymes, and substrate synthesis inhibition: A quarter-century of managing Gaucher disease Lunch Satellite Symposium or Lunch on Your Own |
Clinical Trials II
Co-Chairs: James Cloyd, Ari Zimran
| 1:00 | Luciana Giugliani Hospital de Clínicas de Porto Alegre Porto Algre, Brazil | Disease duration and survival in Brazilian Niemann-Pick disease type C patients: Preliminary data on potential impact of miglustat |
| 1:15 | Forbes D. Porter NIH Bethesda, MD, United States | Phase 1/2 evaluation of intrathecal 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick disease, type C1 |
| 1:30 | Christine Dali Department of Clinical Genetics, Rigshospitalet Copenhagen, Denmark | Intrathecal delivery of recombinant human arylsulfatase A in children with late-infantile metachromatic leukodystrophy |
| 1:45 | Loren Pena Duke University Durham, NC, United States | Phase 1 exploratory efficacy of the novel enzyme replacement therapy neoGAA in treatment-naïve and alglucosidase alfa-treated late-onset Pompe disease patients |
| 2:00 | Mark Friedman Alexion Pharmaceuticals, Inc. Lexington, MA, United States | Safety findings from 3 trials of treatment with sebelipase alfa in children and adults with lysosomal acid lipase deficiency |
| 2:15 | Simon A. Jones Manchester Centre for Genomic Medicine, St Mary’s Hospital, Central Manchester Foundation Trust, University of Manchester Manchester, United Kingdom | Effect of sebelipase alfa on survival and liver function in infants with rapidly progressive lysosomal acid lipase deficiency: 2-year follow-up data |
| 2:30 | Robert J. Desnick Icahn School of Medicine at Mount Sinai New York, NY, United States | Evolution of cardiac pathology in type 1 classic Fabry disease: progressive cardiomyocyte enlargement leads to increased cell death and fibrosis, and correlates with severity of ventricular hypertrophy |
| 2:45 | Break | |
| 3:00 | Franklin K. Johnson Amicus Therapeutics Cranbury, NJ, United States | Comparison of integrated white blood cell alpha-galactosidase A activity exposure between every-other-day orally administered migalastat and biweekly infusions of agalsidase beta or agalsidase alfa |
| 3:15 | Derralynn Hughes University College London London, United Kingdom | Novel treatment for Fabry disease – IV administration of plant derived alpha-GAL-A enzyme safety and efficacy interim report |
| 3:30 | Patricio Aguiar Centro Hospitalar Lisboa Norte Lisbon, Portugal | Urinary type VI collagen: better than albuminuria to identify incipient Fabry nephropathy |
| 3:45 | David G. Warnock UAB Birmingham, AL, United States | Anti-proteinuric therapy and Fabry nephropathy; factors associated with preserved kidney function during agalsidase-beta therapy |
| 4:00 | Dau-Ming Niu Taipei Veteran General Hospital Taipei, Taiwan | Revisited later-onset cardiac type Fabry disease – cardiac damages progressed in silence – experiences from an extremely high prevalent area, Taiwan |
| 4:15 | Suma P. Shankar Emory University School of Medicine Atlanta, GA, United States | Eye findings in Fabry disease and correlation with disease severity |
| 6:00 | Banquet and Award Ceremony | Young Investigator Award New Treatment Award Patient Advocate Leader (PAL) Award |