WORLDSymposium 2019 Preliminary Program* on Lysosomal Diseases

9:00 – 12:00 Council of Patient Advocates (COPA) Workshop: WORLDFair The Lysosomal Disease Network (LDN) Annual Council of Patient Advocates (COPA) Meeting
1:00 – 5:00 Pre-Conference Symposium Emerging Trends: State of the Art for Experts
(Registration required)
5:15 Awards Ceremony Young Investigator Awards Presented. Regency Foyer.
5:30 – 6:30 Opening Reception Regency Ballroom R (Exhibit Hall) – Open to all attendees
6:30 Satellite Symposia

Basic and bench research. Following the presentation of the Roscoe O. Brady 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 ended at 4:30, 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 2019 program (PDF 175KB).

Basic Science I: Disease Mechanisms, Pathology, and Biomarkers of Lysosomal Diseases

Co-Chairs: Danilo A. Tagle & Cynthia J. Tifft

6:15 Satellite Symposia
7:30 Chester B. Whitley
University of Minnesota
Minneapolis, MN, United States
Welcome & Announcements
Presentation of 2019 Roscoe O. Brady Award for Innovation and Accomplishment
7:45 Danilo A. Tagle
National Center for Advancing Translational Sciences
National Institutes of Health
Bethesda, MD, United States
2019 Roscoe O. Brady Award for Innovation and Accomplishment
8:15 Eric Joshua Garcia
National Institutes of Health
Bethesda, MD, United States
Methylomic and whole transcriptome analyses reveal several potential modifier genes in GBA1-associated Parkinson disease
8:30 Vera Niederkofler
QPS Austria GmbH
Grambach, Austria
CBE treatment of alpha-synuclein over-expressing and wildtype mice models Gaucher disease pathology
8:45 Annalisa Astolfi
University of Bologna
Bologna, Italy
Hippo and necroptosis pathways are involved in cell growth defects in Gaucher disease
9:00 Pilar Giraldo
Institute of Health Research Aragon (IIS Aragón)
Zaragoza, Spain
Strain-elastography in musculoskeletal evaluation in Gaucher disease
9:15 Amelia Ahern-Rindell
University of Portland
Portland, OR, United States
Design and analysis of a CRISPR gene editing strategy in a sheep model variant of GM1-gangliosidosis
9:30 Anatalia Labilloy
Cincinnati Children’s Hospital Medical Center
Cincinnati, OH, United States
Proteomic profiling of engineered human immortalized podocyte cell model of Fabry disease
9:45 Break & Exhibits
10:15 Behzad Najafian
University of Washington
Seattle, WA, United States
A novel method for quantification of globotriaocylceramide (GL-3) inclusions in affected podocytes in females with Fabry disease shows progressive accumulation of GL-3 in podocytes with age and no cross-correction between affected and non-affected podocytes
10:30 Jin-Song Shen
Baylor Research Institute
Dallas, TX, United States
Dysregulated DNA methylation in the pathogenesis of Fabry disease
10:45 Siamak Jabbarzadeh-Tabrizi
Baylor Research Institute
Dallas, TX, United States
Effects of genetic background on disease phenotypes in a mouse model of Fabry disease
11:00 Pasqualina Colella
Généthon, Université Evry, Université Paris Saclay
Evry, France
Latent TGF-beta-binding protein 4 modulates disease severity in the knock-out mouse model of Pompe disease
11:15 Katie Harvey
Great Ormond Street Hospital
London, United Kingdom
The evolving role of enzymology and metabolomics in the diagnosis of lysosomal disorders in the post genomic era
11:30 Lunch – On Own or Satellite Symposia Exhibit Hall Open
11:45 Satellite Symposia

Basic Science II: Developing Therapeutic Approaches for Lysosomal Diseases in the Laboratory

Co-Chairs: David A. Pearce & Tiina K. Urv

1:00 Virginia Kimonis
University of California – Irvine
Orange, CA, United States
Antisense oligonucleotide treatment targeting glycogen synthase (GYS1) in a mouse model of Pompe disease
1:15 Kohji Itoh
Tokushima University
Tokushima, Japan
In vivo gene therapy for Tay-Sachs and Sandhoff diseases by utilizing AAV9 vector encoding modified HEXB
1:30 Kazuki Sawamoto
Nemours/Alfred I. duPont Hospital for Children
Wilmington, DE, United States
Development of AAV gene therapy for Morquio syndrome type A
1:45 Saida Ortolano
Instituto de Investigación Sanitaria
Galicia Sur Vigo (Pontevedra), Spain
Functional evaluation of an AAV9 based vector expressing alpha-galactosidase A for potential gene therapy of Fabry disease
2:00 Xin Chen
University of Texas Southwest Medical Center
Dallas, TX, United States
Therapeutic efficacy and safety of scAAV9/AGA gene therapy in aspartylglucosaminuria mice
2:15 Murtaza S. Nagree
University of Toronto
Toronto, ON, Canada
Lentiviral-modified T Rapa cells as ‘micropharmacies’ for lysosomal diseases
2:30 Hojun Choi
Korea Advanced Institute of Science and Technology (KAIST)
Daejeon, Korea
Exosome-mediated delivery of active glucocerebrosidase to Gaucher model cells
2:45 Break & Exhibits
3:15 Ibane Abasolo
Vall d’Hebron Institute of Research
Barcelona, Spain
Targeted nanoliposomes for the treatment of Fabry disease
3:30 Cristin Davidson
National Institutes of Health
Bethesda, MD, United States
Improved disease amelioration with combination therapy for Niemann-Pick type C1 disease
3:45 Yanyan Peng
Cincinnati Children’s Hospital Medical Center
Cincinnati, OH, United States
Intravenous infusion of iPSC-derived neural progenitors expressing GCase ameliorates alpha-synuclein aggregates in a mouse model of Gaucher disease
4:00 Jeanine R. Jarnes
University of Minnesota
Minneapolis, MN, United States
Chitotriosidase as a biomarker for central nervous system inflammation in the gangliosidosis diseases
4:15 Chloe L. Christensen
University of Victoria
Victoria, BC, Canada
Delivery of adenine base editors to patient-derived induced pluripotent stem cells in vitro: A putative treatment for mucopolysaccharidosis type IIIB
4:30 Poster Reception in the Exhibit Hall Poster presenters with First Author Last Name starting with A-L displayed
6:30 Satellite Symposia

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 gene therapy, newborn screening, 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 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 2019 program (PDF 175KB).

Translational Research IA: Gene Therapy

Co-Chairs: R. Scott McIvor & Mark S. Sands

6:15 Satellite Symposia
7:30 Chester B. Whitley
University of Minnesota
Minneapolis, MN, United States
2019 Patient Advocate Leader Announcement and Presentation to Mark Dant
7:45 Steven J. Gray
University of Texas Southwestern Medical Center
Dallas, TX, United States
Intrathecal and intravenous combination gene therapy in the mouse model of infantile neuronal ceroid lipofuscinosis extends lifespan and improves behavioral outcomes in moderately affected mice
8:00 Raymond Y. Wang
Children’s Hospital of Orange County
Orange, CA, United States
Intra-articular AAV9 α-iduronidase gene therapy in the canine model of mucopolysaccharidosis type I results in rapid synovial and cartilage iduronidase expression, clearance of heparan sulfate, and high serum α-iduronidase levels
8:15 Roselena S. Schuh
Universidade Federal do Rio Grande do Sul
Porto Alegre, Brazil
Newborn genome editing improves phenotype, cardiovascular, respiratory, and bone disease in mucopolysaccharidosis type I mice
8:30 Brian Bigger
University of Manchester
Manchester, United Kingdom
Brain targeted stem cell gene therapy provides long-term correction of mucopolysaccharidosis type II
8:45 Giuseppe Ronzitti
Généthon, Université of Evry, Université Paris-Saclay
Evry, France
Safety and efficacy evaluation of investigational liver gene transfer for secretable GAA in the treatment of Pompe disease
9:00 Jeffrey A. Medin
Medical College of Wisconsin
Milwaukee, WI, United States
FACTs Fabry gene therapy clinical trial: Two year data
9:15 Kevin M. Flanigan
Center for Gene Therapy, Nationwide Children’s Hospital
Columbus, OH, United States
Phase 1/2 clinical trial of systemic gene transfer of scAAV9.U1a.hSGSH for MPS IIIA demonstrates 2 years of safety, tolerability, and biopotency
9:30 Cassie Bebout
Auburn University
Auburn, AL, United States
Analysis of the effect of intravenous gene therapy on brain and peripheral disease in a feline model of GM1-gangliosidosis
9:45 Break & Exhibits

Translational Research IB: Implementation and Impact of Newborn Screening

Co-Chairs: Amy Gaviglio & Priya Kishnani

10:15 Chia-Feng Yang
Taipei Veterans General Hospital
Taipei City, Taiwan
Very early treatment for infantile-onset Pompe disease contributes to better outcomes: 10-year experience of nationwide NBS in Taiwan
10:30 Barbara K. Burton
Ann & Robert H. Lurie Children’s Hospital
Chicago, IL, United States
Newborn screening for mucopolysaccharidosis type II (MPS II) in Illinois: The first year’s experience
10:45 Elizabeth Braunlin
University of Minnesota
Minneapolis, MN, United States
Hematopoietic cell transplantation for severe MPS I in the first six months of life: The heart of the matter
11:00 Adam Guenzel
Mayo Clinic
Rochester, MN, United States
Improved differentiation between Krabbe disease variants, carrier status, and pseudo deficiency by measurement of psychosine
11:15 Francisco J. del Castillo
Hospital Universitario Ramón y Cajal, IRYCIS
Madrid, Spain
NGS-based, 107-gene resequencing panel as first-line screening test for lysosomal diseases
11:30 Lunch – On Own or Satellite Symposia Exhibit Hall Open
11:45 Satellite Symposia

Translational Research II: Clinical Trial Readiness – Pre-Clinical Trial Methods and Studies

Co-Chairs: Lalitha R. Belur & Philip J. Brooks

1:00 Laura Adang
Children’s Hospital of Philadelphia
Philadelphia, PA, United States
Clinical presentation of metachromatic leukodystrophy
1:15 Cara O’Neill
Cure Sanfilippo Foundation
Columbia, SC, United States
The natural history of facial features observed in Sanfilippo syndrome (MPS IIIB) using a next generation phenotyping tool
1:30 Rebecca Ahrens-Nicklas
The Children’s Hospital of Philadelphia
Philadelphia, PA, United States
A natural history study of multiple sulfatase deficiency
1:45 Lynda E. Polgreen
Los Angeles Biomedical Research Institute at Harbor-UCLA
Torrance, CA, United States
Exploring surrogate biomarkers of skeletal and joint disease progression in mucopolysaccharidosis type I
2:00 Shunji Tomatsu
Nemours/Alfred I. duPont Hospital for Children
Wilmington, DE, United States
Effect of enzyme replacement therapy on the growth of patients with Morquio syndrome type A
2:15 Ankit K. Desai
Duke University
Durham, NC, United States
Changing the clinical course of infantile Pompe disease with immune modulation strategies: 12 years of experience
2:30 Simon Heales
Great Ormond Street Hospital/UCL
London, United Kingdom
Urinary glucose tetrasaccharide, a useful prognostic biomarker for Pompe disease?
2:45 Break & Exhibits
3:15 Quoc-Hung Nguyen
University of California – San Francisco
San Francisco, CA, United States.
Fetal enzyme replacement and stem cell transplantation in murine Sly syndrome targeting microglia
3:30 Igor Nestrasil
University of Minnesota
Minneapolis, MN, United States
Discovery of brain MRI signatures in infants with severe form of MPS I in the pre-HSCT and post-HSCT stages
3:45 Adeline Vanderver
Children’s Hospital of Philadelphia
Philadelphia, PA, United States
Intrathecally administered recombinant human arylsulfatase A in patients with late-infantile metachromatic leukodystrophy: Phase 2b clinical trial design
4:00 Reena V. Kartha
University of Minnesota
Minneapolis, MN, United States
Preliminary N-acetylcysteine results for LDN 6722, Role of oxidative stress and inflammation in Gaucher disease type 1: Potential use of antioxidant anti-inflammatory medications
4:15 Eric K.W. Hui
ArmaGen Inc.
Calabasas, CA, United States
Preclinical studies of a brain penetrating IgG trojan horse-arylsulfatase fusion protein in the metachromatic leukodystrophy mouse
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 Symposia  

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 2019 program (PDF 175KB).

Clinical Trials I: Clinical Trials for Registration

Co-Chairs: Stephen C. Groft & Anne R. Pariser

6:15 Satellite Symposia
7:30 Chester B. Whitley
University of Minnesota
Minneapolis, MN, United States
Keynote Address: The ‘new’ Lysosomal Disease Network
8:00 Raphael Schiffmann
Baylor Research Institute
Dallas, TX, United States
Venglustat in adult Gaucher disease type 3: Preliminary safety, pharmacology, and exploratory efficacy from a phase 2 trial in combination with imiglucerase (LEAP)
8:15 Ronald G. Crystal
Weill Cornell Medicine
New York, NY, United States
Design and rationale of the LYS-SAF302 gene therapy study in mucopolysaccharidosis type IIIA (MPS IIIA) children
8:30 Myrl D. Holida
University of Iowa Hospitals and Clinics
Iowa City, IA, United States
Once every 4 weeks – 2 mg/kg of pegunigalsidase alfa for treating Fabry disease; Preliminary results of a phase 3 study
8:45 Ulla Feldt-Rasmussen
Rigshospitalet, Copenhagen University Hospital
Copenhagen, Denmark
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 30-month results from the randomized phase 3 ATTRACT study
9:00 Priya S. Kishnani
Duke University
Durham, NC, United States
Safety and efficacy of VAL-1221, a novel fusion protein targeting cytoplasmic glycogen, in patients with late-onset Pompe disease
9:15 Paula R. Clemens
University of Pittsburgh and Department of Veterans Affairs Medical Center
Pittsburgh, PA, United States
Efficacy and safety of AT-GAA (ATB200/AT2221) in ERT-switch non-ambulatory patients with Pompe disease: Preliminary results from the ATB200-02 trial
9:30 Loren Pena
University of Cincinnati College of Medicine
Cincinnati, OH, United States
NEO1 and NEO-EXT studies: Long-term safety of repeat avalglucosidase alfa dosing for 4.5 years in late-onset Pompe disease patients
9:45 Refreshment Break in Foyer
10:15 Nathalie Guffon
Hôpital Femme Mère Enfant
Lyon, France
The first study investigating safety and efficacy of velmanase alfa (human recombinant alpha mannosidase) in alpha-mannosidosis patients below six years of age
10:30 Kara Woolgar
Phoenix Children’s Hospital
Phoenix, AZ, United States
Intravenous 2-hydroxypropyl-beta-cyclodextrin for a Niemann-Pick disease type C1 infant with liver cirrhosis
10:45 Paul J. Orchard
University of Minnesota
Minneapolis, MN, United States
Preliminary results demonstrate engraftment with minimal neutropenia with MGTA-456, a CD34+ expanded cord blood (CB) product in patients transplanted for inherited metabolic disorders (IMD)
11:00 Joseph Muenzer
University of North Carolina, Chapel Hill
Chapel Hill, NC, United States
CHAMPIONS: A phase 1/2 clinical trial with dose escalation of SB-913 ZFN-mediated in vivo human genome editing for treatment of MPS II (Hunter syndrome)
11:15 Paul Harmatz
UCSF Benioff Children’s Hospital Oakland
Oakland, CA, United States
EMPOWERS: A phase 1/2 clinical trial of SB-318 ZFN-mediated in vivo human genome editing for treatment of MPS I (Hurler syndrome)
11:30 Lunch – On Own or Satellite Symposia
11:45 Satellite Symposia

Clinical Trials II: Clinical Outcomes

Co-Chairs: Yoshikatsu Eto, Jill Morris & Marc C. Patterson

1:00 Maureen Cleary
Great Ormond Street Hospital
London, United Kingdom
ICV-administered tralesinidase alfa (BMN 250; NAGLU-IGF2) is well-tolerated and reduces heparan sulfate accumulation in the CNS of subjects with Sanfilippo syndrome type B (MPS IIIB)
1:15 Maria L. Escolar
Children’s Hospital of Pittsburgh
Pittsburgh, PA, United States
Long-term neurodevelopmental outcomes of hematopoietic stem cell transplantation for late-infantile Krabbe disease
1:30 Karolina M. Stepien
Salford Royal NHS Foundation Trust
Salford, United Kingdom
Hormonal dysfunction in adult patients with mucopolysaccharidosis type I post haematopoietic stem cell transplantation
1:45 Ashish Gupta
University of Minnesota
Minneapolis, MN, United States
Allogeneic hematopoietic stem cell transplant improves outcomes in fucosidosis
2:00 Mark Roberts
Salford Royal NHS Foundation Trust
Salford, United Kingdom
Preliminary patient-reported outcomes and safety of AT-GAA (ATB200/AT2221) in patients with Pompe disease from the ATB200-02 trial
2:15 Edwin Chavez-Cintora
BioMarin Pharmaceutical Inc.
Novato, CA, United States
Insights into Sanfilippo syndrome provided by the ConnectMPS worldwide online registry
2:30 Troy Lund
University of Minnesota
Minneapolis, MN, United States
Predicting intelligence in MPS IH with biomarkers
2:45 Refreshment Break
3:15 Brianna Glase
National Institutes of Health
Bethesda, MD, United States
Robust clinical outcome measures for patients with juvenile onset GM1-gangliosidosis
3:30 Angela Schulz
University Medical Center Hamburg-Eppendorf
Hamburg, Germany
Persistent treatment effect of cerliponase alfa in children with CLN2 disease: A 3 year update from an ongoing multicenter extension study
3:45 Tama Dinur
Shaare Zedek Medical Center, Hadassah Medical Center, The Hebrew University
Jerusalem, Israel
Long-term follow-up of 103 untreated adult patients with type 1 Gaucher disease
4:00 Uma Ramaswami
Royal Free London NHS Foundation Trust
University College London
London, United Kingdom
Migalastat: Single centre experience of adult patients with Fabry disease from the Royal Free London NHS Foundation Trust, UK
4:15 Christian J. Hendriksz
Steve Biko Academic Hospital
Pretoria, South Africa
Evidence-based, expert-agreed recommendations for the management of patients with MPS IVA/VI: Recommendations to replace the specific missing enzyme
4:30 Adjourn & Networking Reception Open to All Attendees; Regency Rotunda
5:30 Council of Research Experts (CORE) Meeting The Lysosomal Disease Network (LDN) annual Council of Research Experts (CORE) meeting for NIH-funded investigators

*This will be a preliminary program only. ALL times and speakers will be subject to change. Be sure to check back weekly as updates are made.

Attention to All Platform Speakers: It is the policy of WORLDSymposium to publish all abstracts with the list of authors exactly as the abstract was submitted to WORLDSymposium. The first author of the submitted abstract will be listed as the Platform Speaker (presenting author) on the Preliminary Program, Agenda, and Poster List.

All requests for changes to the Platform Speaker (presenting author) will be reviewed by the WORLDSymposium Planning Committee prior to approval. No changes will be made to the Preliminary Program posted online; any changes to the Platform Speaker will be announced from the podium by the co-chairs only at the time of the platform presentation. The Preliminary Program will remain published with the original first author, and all communication will continue to go to the first author of the abstract.

The submitting first author will continue to  receive all instructions from the automated abstract notification system. Please be sure that the first author is aware they will need to forward any  email instructions for PowerPoint preparation, and for advance review of presentations. Meeting the presentation guidelines and submitting presentations for prior review must be done to meet ACCME accreditation requirements.

Platform Speaker and Poster Presenter instructions will be sent to first authors soon. Information will also be posted here on the website as soon as it is available.

Reference the Frequently Asked Questions pages for additional information.


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