WORLDSymposium™ 2017 Full Program on Lysosomal Diseases

Monday, Feb. 13 Tuesday, Feb. 14 Wednesday, Feb. 15 Thursday, Feb. 16

9:00 – 12:00	Council of Patient Advocates (COPA)	“WORLD in Translation” workshop
1:00 – 5:00	Pre-Conference Symposium	Emerging Trends: State of the Art for Experts (Registration required)
6:00	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 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. After the presentations end at 4:30 PM, the evening poster sessions open. Abstracts from over 175 researchers will be presented on Day 1, primarily focused on basic and translational research. Download the WORLDSymposium 2017 program (PDF 165KB).

Basic Science I

Co-Chairs: R. Scott McIvor & Danuta Krotoski

6:30	Satellite Symposia
7:45	Chester B. Whitley University of Minnesota Minneapolis, MN, United States	Welcome & Innovation Award Announcement
7:55	Konrad Sandhoff LIMES Institute c/o Kekulé-Institute, Rheinische Friedrich-Wilhelms-Universitaet Bonn Bonn, Germany	Sphingolipidoses membrane lipids regulate and modify sphingolipid catabolism, its enzymes, lipid binding and transfer proteins
8:30	Li Ou University of Minnesota Minneapolis, MN, United States	Proteomic analysis of mucopolysaccharidosis type I mouse brain with two-dimensional polyacrylamide gel electrophoresis
8:45	Yumiko V. Taguchi Yale University New Haven, CT, United States	Glucosylsphingosine accelerates α-synuclein pathology in GBA-associated Parkinson disease
9:00	Sharon Byers University of Adelaide Adelaide, Australia	Cell cycle progression is disrupted in murine MPS VII growth plate chondrocytes
9:15	Richard Roberts Minoryx Therapeutics Mataró (Barcelona), Spain	Allosteric, non-inhibitory pharmacological chaperones for the treatment of lysosomal diseases
9:30	Kasturi Haldar University of Notre Dame Notre Dame, IN, United States	Chronic HDACi therapy to treat multiple lysosomal diseases
9:45	Break and Exhibits
10:15	Jeong-A Lim National Institutes of Health Bethesda, MD, United States	Modulation of mTOR signaling as a therapeutic approach for Pompe disease
10:30	Richard W.D. Welford Actelion Pharmaceuticals Allschwil, Switzerland	Lucerastat, an iminosugar for substrate reduction therapy in Fabry disease: preclinical evidence
10:45	Marshall W. Huston Sangamo Biosciences Richmond, CA, United States	Liver-based expression of the human alpha-galactosidase A gene (GLA) in a murine Fabry model results in continuous supra-physiological enzyme activity and effective substrate reduction
11:00	Spencer Goodman University of California, San Diego La Jolla, CA, United States	Delivery highways: tunneling nanotubes facilitate transfer of therapeutic molecules for gene therapy treatment of cystinosis
11:15	Shih-hsin Kan Los Angeles Biomedical Research Institute at Harbor-UCLA Torrance, CA, United States	AAV5-mediated gene therapy with choroid plexus-directed α-n-acetyl-glucosaminidase expression in Sanfilippo syndrome type B mice
11:30	Lalitha Belur University of Minnesota Minneapolis, MN, United States	Recovery of neurologic function in mucopolysaccharidosis type I mice with existing neurocognitive dysfunction by treatment with AAV9-IDUA vector
11:45	Lunch – On Own or Satellite Symposia

Basic Science II

Co-Chairs: Walter Low, Li Ou & Rashmi Gopal-Srivastava

1:00	Lauren E. Ellis Auburn University Auburn, AL, United States	Cardiovascular manifestations of feline Sandhoff disease after intravenous AAV gene therapy
1:15	Shahzeb Hassan National Institutes of Health Bethesda, MD, United States	Looking beyond the realm of traditional genetics: DNA methylation differences in discordant Gaucher disease twins
1:30	Mia Horowitz Tel Aviv University Ramat Aviv, Israel	The contribution of mutant GCase to the accumulation and aggregation of alpha synuclein
1:45	Manoj K. Pandey Cincinnati Children’s Hospital Medical Center Cincinnati, OH, United States	Glucosylceramide partnership with immunological villain in Gaucher disease
2:00	Vincent Puy Chu Amiens Amiens, France	In Sanfilippo syndrome, heparan sulfate hexasaccharides are the most pathogenic fractions involved in glia activation.
2:15	Brian Bigger University of Manchester Manchester, United Kingdom	Mucopolysaccharidosis IIIA storage substrate drives an innate immune neuro-inflammatory response
2:30	Melani A. Solomon University of Maryland College Park, MD, United States	Transcytosis alterations in lysosomal diseases
2:45	Break and Exhibits
3:15	Prakrit V. Jena Memorial Sloan Kettering Cancer Center New York, NY, United States	Optical non-invasive detection of Niemann-Pick disease in vitro and in vivo
3:30	Heechun Kwak Mogam Institute for Biomedical Research Yongin, Republic of Korea	MPS II model cell line by CRISPR-Cas9 technique
3:45	Sang-oh Han Duke University Durham, NC, United States	Beneficial effects of carvedilol with enzyme replacement therapy in Pompe disease
4:00	Yoseph Shaaltiel Protalix Carmiel, Israel	Characterization of a chemically modified plant cell culture expressed human α-galactosidase-A enzyme for treatment of Fabry disease
4:15	Kohji Itoh Tokushima University Tokushima, Japan	A transgenic silkworm overexpressing human lysosomal enzyme as a novel resource for producing recombinant glycobiologics and its application to development of enzyme replacement therapy for lysosomal diseases
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 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. After the presentations end at 4:30 PM on Day 2, a second set of poster abstracts will be presented by more than 200 additional researchers, featuring cutting-edge translational and clinical research areas. Download the WORLDSymposium 2017 program (PDF 165KB).

Translational Research I

Co-Chairs: Alessandra Biffi & Danilo Tagle

6:30	Satellite Symposia
7:40	Chester B. Whitley University of Minnesota Minneapolis, MN, United States	Welcome and Announcements
7:45	Elsa G. Shapiro University of Minnesota Minneapolis, MN, United States	Keynote Address: Understanding and measuring neurodegeneration in childhood onset lysosomal diseases
8:15	Patrick V. Hopkins Missouri State Public Health Laboratory Jefferson City, MO, United States	State-wide newborn screening for four lysosomal diseases reveals high incidence rate for Pompe and Fabry diseases
8:30	Soumeya Bekri Normandie University Rouen University Hospital Rouen, France	Development, analytical validation and implementation of a next generation sequencing panel to assess lysosomal diseases
8:45	Abdellah Tebani Normandie University Rouen University Hospital Rouen, France	Metabolic phenotyping of mucopolysaccharidoses using untargeted liquid chromatography ion mobility mass spectrometry-based strategy
9:00	R. Scott McIvor University of Minnesota Minneapolis, MN, United States	Relative effectiveness of different routes of AAV administration for gene therapy of mucopolysaccharidosis
9:15	Russell DeKelver Sangamo BioSciences Richmond, CA, United States	ZFN-mediated in vivo genome editing results in phenotypic correction in murine MPS I and MPS II models
9:30	Hélène F. E. Gleitz University of Manchester Manchester, United Kingdom	Whole body correction of severe mucopolysaccharidosis type II by lentiviral-mediated stem cell gene therapy with blood-brain barrier-crossing peptides
9:45	Break and Exhibits
10:15	Kelly M. Podetz-Pedersen University of Minnesota Minneapolis, MN, United States	Neurologic improvement in a mouse model of Hunter syndrome (mucopolysaccharidosis type II) by treatment with AAV9 vector after the development of cognitive dysfunction
10:30	Tatiana Lobry University of California, San Diego San Diego, CA, United States	Towards a phase I clinical trial for autologous hematopoietic stem cells transplantation in cystinosis
10:45	Claire O’Leary University of Manchester Manchester, United Kingdom	Gene therapy mediated correction of neurological manifestations of MPS IIIC using a novel AAV serotype
11:00	Eun-Young Choi National Institutes of Health Bethesda, MD, United States	Dose-ranging comparison of choroid plexus-directed versus pan-neuronal-directed recombinant AAV gene therapy in a murine model of alpha-mannosidosis
11:15	Alejandra J. Rozenberg University of North Carolina at Chapel Hill Chapel Hill, NC, United States	Early intrathecal gene therapy extends lifespan and improves quality of life in a mouse model for infantile neuronal ceroid lipofuscinosis
11:30	Heather L. Gray-Edwards Auburn University Auburn, AL, United States	Long term survival of sheep with Tay-Sachs disease after intracranial delivery of a novel bicistronic AAV gene therapy vector
11:45	Lunch – On Own or Satellite Symposia

Translational Research II

Co-Chairs: Yoshikatsu Eto & Ellen Sidransky

1:00	Reid Martin BioStrategies-LC Jonesboro, AR, United States	Receptor-independent mechanisms of RTB lectin-mediated ERT delivery provide unique advantages in enzyme uptake capacity, transcytosis, and lysosomal correction
1:15	Grzegorz Wegrzyn University of Gdansk Gdansk, Poland	Genistein – a lysosomal stimulator for treatment of various lysosomal diseases
1:30	Andrew D. Baik Regeneron Pharmaceuticals Tarrytown, NY, United States	Engineering tissue specific delivery of enzymes for lysosomal disease treatment
1:45	Edward H. Schuchman Icahn School of Medicine at Mount Sinai New York, NY, United States	Proof-of-concept studies underlying enzyme replacement therapy for acid ceramidase deficiency
2:00	Chanchala Kaddi Sanofi Genzyme Cambridge, MA, United States	Quantitative systems pharmacology model of acid sphingomyelinase deficiency and the enzyme replacement therapy olipudase alfa is an innovative tool for linking pathophysiology and pharmacology
2:15	Hung Do Amicus Therapeutics, Inc. Cranbury, NJ, United States	Stabilized next-generation recombinant human acid alpha-glucosidase ATB200 clears accumulated glycogen and reverses cellular dysfunction to increase functional muscle strength in a mouse model of Pompe disease
2:30	Han-Hyuk Lim Duke University Medical Center Durham, NC, United States	Immunomodulation to enzyme replacement therapy with tolerogenic nanoparticles containing rapamycin in a murine model of Pompe disease
2:45	Break and Exhibits
3:15	Thomas Kirkegaard Orphazyme Copenhagen, Denmark	Heat shock protein-based therapy for sphingolipidoses
3:30	Hojun Choi Korea Advanced Institute of Science & Technology Daejeon, Republic of Korea	Delivery of lysosomal enzymes via EXPLOR: exosome engineered for protein loading by optogenetically reversible protein interaction
3:45	Jess G. Thoene University of Michigan Ann Arbor, MI, United States	Microvesicle-mediated delivery of cystinosin to rabbit cornea
4:00	Gustavo Maegawa University of Florida Gainesville, FL, United States	Identification of psychosine-reducing small molecule agents for Krabbe disease
4:15	N. Matthew Ellinwood Iowa State University Ames, IA, United States	Preliminary findings of a twenty-six week or longer intracerebroventricular infusion study of BMN 250 administered once every 2 weeks in a canine model of mucopolysaccharidosis type IIIB
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 is 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 will also include presentations related to re-thinking the definition of biomarkers for lysosomal disease. Download the WORLDSymposium 2017 program (PDF 165KB).

Clinical Trials I

Co-Chairs: Lynda Polgreen & Frits Wijburg

6:30	Satellite Symposium
7:40	Chester B. Whitley University of Minnesota Minneapolis, MN, United States	Welcome and Announcements
7:45	Richard A. Moscicki Food and Drug Administration Silver Spring, MD, United States	Keynote Address: An FDA Perspective on Rare Disease Drug Development
8:15	Pramod K. Mistry Yale University School of Medicine New Haven, CT, United States	Long-term results of ENGAGE: a phase 3, randomized, double‑blind, placebo-controlled, multi‑center study investigating the efficacy and safety of eliglustat in adults with type 1 Gaucher disease
8:30	Timothy M. Cox University of Cambridge Addenbrooke’s Hospital Cambridge, United Kingdom	Maintenance of quality of life in adults with type 1 Gaucher disease previously stabilized on enzyme therapy who were switched to oral eliglustat: 4 year results of the ENCORE trial
8:45	Ari Zimran Shaare Zedek Medical Center Jerusalem, Israel	Pharmacokinetics, safety, and efficacy of rapid infusions of velaglucerase alfa in adult patients with Gaucher disease
9:00	Line Borgwardt University Hospital of Copenhagen Rigshospitalet Copenhagen, Denmark	Long-term enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase) slows disease progression in adult patients suffering from alpha-mannosidosis
9:15	Ana Cristina Puga Sanofi Genzyme Cambridge, MA, United States	Olipudase alfa for the treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months
9:30	Melissa Wasserstein Children’s Hospital at Montefiore Bronx, NY, United States	The New York pilot newborn screen for lysosomal diseases: 40 month data
9:45	Break and Exhibits
10:15	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: interim results from an ongoing multicenter, multinational extension study
10:30	Francyne Kubaski University of Delaware Newark, DE, United States	Hematopoietic stem cell transplantation for patients with mucopolysaccharidosis type II
10:45	Troy Lund University of Minnesota Minneapolis, MN, United States	Triple therapy for MPS IH: intrathecal iduronidase, IV-ERT, and hematopoietic cell transplant
11:00	Agnes Chen Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center Torrance, CA, United States	A randomized open-label clinical trial of intrathecal recombinant human alpha-l-iduronidase for cognitive decline in mucopolysaccharidosis type I
11:15	Roberto Giugliani Hospital de Clinicas de Porto Alegre Porto Alegre, Brazil	Intravenous infusion of iduronidase-IgG and its impact on the central nervous system in children with Hurler syndrome
11:30	Christian J. Hendriksz University of Pretoria Pretoria, South Africa	Elosulfase alfa treatment and changes in physical functioning and disability in Morquio syndrome type A
11:45	Lunch – On Own or Satellite Symposia

Clinical Trials II

Co-Chairs: James Cloyd & Jill Morris

1:00	Rossella Parini Fondazione MBBM, Azienda Ospedaliera San Gerardo Monza, Italy	Sub-analysis of long-term elosulfase alfa treatment outcomes in adults with Morquio syndrome type A
1:15	Marc Tardieu Université Paris Sud Le Kremlin-Bicêtre, France	Intracerebral administration of rAAV2/5hNAGLU vector in children with MPS IIIB: results at 30 months of a phase I/II trial
1:30	Kevin M. Flanigan Research Institute of Nationwide Children’s Hospital Columbus, OH, United States	Systemic gene transfer of scAAV9.U1a.hSGSH for MPS IIIA: tolerability and preliminary evidence for a biochemical effect
1:45	Paul Harmatz Children’s Hospital Oakland Oakland, CA, United States	A novel, randomized, placebo-controlled, blind-start, single-crossover phase 3 study to assess the efficacy and safety of UX003 (rhGUS) enzyme replacement therapy in patients with MPS VII
2:00	Barbara K. Burton Northwestern University Chicago, IL, United States	Long-term benefit of sebelipase alfa over 76 weeks in children and adults with lysosomal acid lipase deficiency (LAL-D) (ARISE)
2:15	Mark Friedman Alexion Pharmaceuticals, Inc. New Haven, CT, United States	Effect of sebelipase alfa on survival to 3 years of age and liver function in infants with rapidly progressive lysosomal acid lipase deficiency
2:30	Uma Ramaswami Royal Free London NHS Foundation Trust, University College London London, United Kingdom	A randomized, phase 3B, open-label, parallel-group study of agalsidase beta in treatment-naive male pediatric patients with Fabry disease without severe symptoms (FIELD study): GL-3 clearance from kidney cells
2:45	Break and Exhibits
3:15	Ans van der Ploeg Erasmus MC University Medical Center Rotterdam, Netherlands	Long-term efficacy of alglucosidase alfa in late-onset Pompe disease
3:30	Dominique P. Germain University of Versailles–St. Quentin en Yvelines (UVSQ) Montigny, France	Efficacy of migalastat in a cohort of male patients with the classic Fabry phenotype in the FACETS phase 3 study
3:45	Derralynn Hughes Royal Free Hospital, NHS Foundation Trust, University College London London, United Kingdom	One-year follow up of Fabry disease patients treated by IV administration of a plant derived alpha-Gal-A enzyme: safety and efficacy
4:00	Ulla Feldt-Rasmussen Rigshospitalet Copenhagen University Hospital Copenhagen, Denmark	Efficacy and safety of migalastat, an oral pharmacologic chaperone for Fabry disease: results from two randomized phase 3 studies, FACETS and ATTRACT
4:15	David Warnock University of Alabama – Birmingham Birmingham, AL, United States	PRX-102 for treating Fabry disease – immunogenicity and PK results from a phase 1-2 study
6:00	Banquet and Award Ceremony	Young Investigator Awards Patient Advocate Leader Award New Treatment Award Tickets Required