WORLDSymposium™ 2018 Full Program on Lysosomal Diseases

8:30 – 12:00Council of Patient Advocates (COPA)Lysosomal Disease Network’s (LDN) Workshop
WORLD Translation and WORLD Activation
1:00 – 5:00Pre-Conference SymposiumEmerging Trends: State of the Art for Experts
(Registration required)
5:15Awards CeremonyYoung Investigator Awards and New Treatment Award Presented. Harbor Foyer.
5:30 – 6:30Opening ReceptionHarbor Ballroom (Exhibit Hall) – Open to all attendees
6:30Satellite 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

6:30Satellite Symposia 
7:45Chester B. Whitley
University of Minnesota
Minneapolis, MN, United States
Welcome & Innovation Award Announcement
7:55Mark Haskins
University of Pennsylvania
Philadelphia, PA, United States
“…standing on the shoulders of Giants”
8:30Patricia Dickson
Torrance, CA, United States
Neuroimaging and neuropathology reveal progressively abnormal white matter and cerebrospinal fluid volume in MPS I dogs
8:45Roselena 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
9:00Jillian R. Brown
TEGA Therapeutics
La Jolla, CA, United States
Guanidinylated neomycin conjugation enhances intranasal enzyme replacement in the brain
9:15Yanyan 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
9:30Jenny 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
9:45Break and Exhibits 
10:15Mia Horowitz
Tel Aviv University
Ramat Aviv, Israel
The contribution of mutant glucocerebrosidase to the aggregation of alpha synuclein
10:30Simon 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
10:45Benjamin McMahon
National Institutes of Health
Bethesda, MD, United States
The importance of astrocytes in the pathophysiology of GBA1-associated Parkinson disease
11:00Nadav 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
11:15Brian W. Bigger
University of Manchester
Manchester, United Kingdom
Interleukin-1 plays a central role in behaviour abnormalities in mucopolysaccharidosis type III (MPS III)
11:30Chelsee 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
11:45Lunch – On Own or Satellite Symposia; Exhibit Hall Open 

Basic Science II

Co-Chairs: Brian Bigger & Jill Morris

1:00Alexey V. Pshezhetsky
CHU Ste-Justine, University of Montreal
Montreal, QC, Canada
Chaperone therapy for mucopolysaccharidosis type IIIC
1:15Sharon Byers
SA Pathology (WCH site)
Nth Adelaide, Australia
Chondrogenesis and osteogenesis are delayed by MPS IVA keratan sulphate but not normal keratan sulphate
1:30Fabian PS. Yu
University of Toronto
Toronto, ON, Canada
Ocular pathology and visual impairment in a mouse model of acid ceramidase deficiency
1:45Salvatore Molino
Medical College of Wisconsin
Milwaukee, WI, United States
Hepatocellular dysfunction and gene expression changes in the acid ceramidase deficient mouse
2:00Daesung Shin
SUNY Buffalo
Buffalo, NY, United States
Temporal Galc deletion reveals a critical vulnerable period in the pathogenesis of Krabbe leukodystrophy
2:15Rebecca Ahrens-Nicklas
The Children’s Hospital of Philadelphia
Philadelphia, PA, United States
Neuronal network dysfunction in juvenile neuronal lipofuscinosis
2:30Hemanth 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
2:45Break and Exhibits 
3:15Zhirui Jiang
The University of Adelaide
Adelaide, Australia
MPS VII mice display reduced circulating IGF1 and disrupted cell cycle progression in the growth plate
3:30Christina 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
3:45Murtaza S. Nagree
University of Toronto
Toronto, ON, Canada
In vivo enrichment of transduced cells to enhance gene therapy for Fabry disease
4:00Daphne Chen
University of North Carolina, Chapel Hill
Chapel Hill, NC, United States
Identification of novel AAV capsids for treatment of lysosomal disorders
4:15Li Ou
University of Minnesota
Minneapolis, MN, United States
Metabolomics profiling of mice and patients with Sandhoff disease to identify biomarkers
4:30Poster Reception in the Exhibit HallPoster presenters with First Author Last Name starting with A-L displayed
6:30Satellite 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

6:30Satellite Symposia 
7:45Chester B. Whitley
University of Minnesota
Minneapolis, MN, United States
Welcome and Patient Advocate Leadership Award
8:00Petra Kaufmann
National Institutes of Health
Bethesda, MD, United States
Keynote Address: NCATS Rare Diseases Research Update 2018
8:30Natalia 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
8:45Yewande 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
9:00Stuart 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
9:15Manuela Corti
University of Florida
Gainesville, FL, United States
Enabling redosing of AAV by immune management in Pompe disease: preclinical to clinical studies
9:30Shaun Brothers
University of Miami Miller School of Medicine
Miami, FL, United States
Novel small molecule therapy development for MPS I
9:45Break and Exhibits 
10:15Nina Raben
National Institutes of Health
Bethesda, MD, United States
A major advance in the search for more effective therapy for Pompe disease
10:30Iris 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
10:45Eugeni V. Entchev
21121 Daix, France
Odiparcil is a promising substrate reduction therapy in MPS VI murine model
11:00C. 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
11:15Anuj Chauhan
University of Florida
Gainesville, FL, United States
Contact lens based therapy for ocular cystinosis
11:30Yedda 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
11:45Lunch – On Own or Satellite Symposia; Exhibit Hall Open 

Translational Research II

Co-Chairs: Rashmi Gopal-Srivastava & James Cloyd

1:00Thomas 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
1:15Silvere 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
1:30Cristin 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
1:45Ying 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
2:00Anita 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
2:15Ai Yin Liao
University of Manchester
Manchester, United Kingdom
Induction of immune tolerance to enzyme replacement therapy in mucopolysaccharidosis type I
2:30Derek Kelaita
ArmaGen Inc.
Calabasas, CA, United States
Platform technology for treatment of the brain in lysosomal disorders
2:45Break and Exhibits 
3:15Hiroyuki Sonoda
JCR Pharmaceuticals
Kobe, Japan
Blood-brain barrier-penetrating iduronate-2-sulfatase reduces brain glycosaminoglycans in mouse model of mucopolysaccharidosis type II
3:30David 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
3:45Andrew Baik
Regeneron Pharmaceuticals
Tarrytown, NY, United States
Next-generation antibody-guided enzyme replacement therapy in Pompe disease mice
4:00Kelly George
Sanofi Genzyme
Framingham, MA, United States
Comprehensive exploratory study to identify novel biomarkers of Pompe disease
4:15John 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)
4:30Poster Reception in the Exhibit HallPoster presenters with First Author Last Name starting with M-Z and all Late-Breaking abstracts displayed
6:30Satellite 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

6:30Satellite Symposium
7:40Chester B. Whitley
University of Minnesota
Minneapolis, MN, United States
Welcome and Announcements
7:45R. Rodney Howell
University of Miami
Miami, FL, United States
Keynote Address: What innovation has changed medical care more than newborn screening?
8:15Amy Gaviglio
Minnesota Department of Health
Minneapolis, MN, United States
State of national implementation for lysosomal diseases
8:30Stacey A. Wong
San Francisco, CA, United States
Copy number variation analysis by next-generation sequencing enhances molecular diagnostic yield of lysosomal diseases
8:45Lynda 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
9:00Chester 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
9:15Nicole 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)
9:30Angela 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
10:15Joseph 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
10:30Roberto 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
10:45Caroline Sevin
Neuropediatrics Unit, Bicêtre Hospital
Le Kremlin-Bicetre, France
Intracerebral gene therapy in children with metachromatic leukodystrophy: results of a phase I/II trial
11:00Kevin 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
11:15Sophie Olivier
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
11:30Torayuki 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
11:45Lunch – On Own or Satellite Symposia 

Clinical Trials II

Co-Chairs: Steve Groft & Uma Ramaswami

1:00Raymond 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
1:15Franklin 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
1:30Paul 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
1:45Caren Swift
Baylor Research Institute
Dallas, TX, United States
Ten years of migalastat treatment in a patient with Fabry disease: a case report
2:00Julia B. Hennermann
University Medical Center Mainz
Mainz, Germany
Pharmacokinetics, pharmacodynamics, and safety of moss agalactosidase A in patients with Fabry disease
2:15Derralynn 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
2:30Simon 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
3:15Livia D. Paskulin
Universidade Federal do Rio Grande do Sul
Porto Alegre, Brazil
Taliglucerase-alpha and Gaucher disease type 1: a five-year follow-up
3:30David 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
3:45Joel 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
4:00Heather 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
4:15M. Judith Peterschmitt
Sanofi Genzyme
Cambridge, MA, United States
Evaluation of glucosyl ceramide synthase (GCS) inhibition for GBA-associated Parkinson’s disease
4:30Networking ReceptionOpen to All Attendees; Seaport Foyer

*This was a preliminary program only. ALL times and speakers were subject to change. Updates were made weekly.