WORLDSymposium 2017 Program

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  Tickets Required