Emerging Trends (Monday 8:00-11:30 AM); Basic and Bench Science (Monday 1:00-4:30 PM).
Following Emerging Trends in the morning and the Young Investigator Awards, presentations in the afternoon session 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. Download the WORLDSymposium 2020 program (PDF 150KB).

8:00Pre-Conference SymposiumEmerging Trends: State-of-the-Art for Experts
(Registration required)
11:30Lunch – On Own 

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

Co-Chairs: Jill A. Morris & Danilo A. Tagle

1:00Chester B. Whitley
University of Minnesota
Minneapolis, MN, United States
Welcome & Announcements
Presentation of 2020 Young Investigator Award
1:15Soumeya Bekri
Rouen University Hospital
Rouen, France
Predictive biological patterns in Fabry disease revealed by integrative omics machine learning analysis
1:30Anastasia G. Henry
Denali Therapeutics
South San Francisco, CA, United States
Brain delivery and efficacy of an intravenously-administered lysosomal enzyme using a blood-brain barrier transport vehicle
1:45Petra Oliva
ARCHIMEDlife
Vienna, Austria
Differential diagnosis of Niemann-Pick disease types A and B in cases of suspected Gaucher disease
2:00Shaun C. Bolton
University Hospital Birmingham NHS Foundation Trust
Birmingham, United Kingdom
International Niemann-Pick Disease Registry (INPDR): The characteristics of ASMD and NPC patients
2:15Ibane Abasolo
Vall d’Hebron Institute of Research
Barcelona, Spain
Extracellular vesicles increase the enzymatic activity of lysosomal proteins and improve the efficacy of enzyme replacement therapy in Fabry disease
2:30Behzad Najafian
University of Washington
Seattle, WA, United States
Podocyte globotriaosylceramide (GL-3) content in female adult patients with Fabry disease and amenable mutations reduces following 6 months of treatment with migalastat
2:45Break 
3:15Weihua Tian
University of Copenhagen
Copenhagen, Denmark
Long-acting glyco-design (LAGD) for improved kinetics and distribution of α-galactosidase A
3:30Poulomee Bose
Centre Hospitalier Universitaire Sainte-Justine (CHU St. Justine)
Montreal, QC, Canada
Early synaptic dysfunction in MPS IIIC
3:45Takumi Era
IMEG, Kumamto University
Kumamoto, Japan
Presynaptic dysfunction in neurons derived from Tay-Sachs-iPSCs
4:00Sarah Kim
University of Minnesota
Minneapolis, MN, United States
Quantification of cerebrospinal fluid chitotriosidase in a clinical laboratory is validated for use in diagnosis and clinical trials
4:15Mohammad A. Hossain
Advanced Clinical Research Centre
Kawasaki, Kanagawa, Japan
DNA methylation study of GLA gene and its association with autophagy and clinical severity of heterozygous Fabry disease females
4:30Poster Reception in the Exhibit Hall 

Basic and Bench Science (Tuesday 7:30-11:30 AM). Basic and bench science presentations continued on Tuesday morning after the presentation of the Roscoe O. Brady Award for Innovation and Accomplishment, and featured award recipient presentation. Translational Research (Tuesday 1:00-4:30 PM). Presentations in these sessions turn 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. Download the WORLDSymposium 2020 program (PDF 150KB).

Basic Science II: Developing Therapeutic Approaches in the Laboratory

Co-Chairs: Brian Bigger & Sarah Kim

6:15Satellite Symposia 
7:30Chester B. Whitley
University of Minnesota
Minneapolis, MN, United States
Welcome & Presentation of 2020 Roscoe O. Brady Award for Innovation and Accomplishment
7:45John F. Crowley
Amicus Therapeutics, Inc.
Cranbury, NJ, United States
2020 Roscoe O. Brady Award for Innovation and Accomplishment Address: The Moral Obligation to Ensure Access to Medicines for All Patients in Need
8:15Jeffrey Y. Huang
Children’s Hospital of Orange County
Orange, CA, United States
Longitudinal assessment and immune response to recombinant GAA in CRISPR-Cas9 generated Pompe disease knock-in mice
8:30Maria Dolores Ledesma
Centro Biologia Molecular Severo Ochoa
Madrid, Spain
Inhibition of fatty acid amide hydrolase prevents pathology in a mouse model of acid sphingomyelinase deficiency by rescuing downregulated endocannabinoid signalling
8:45Rebecca C. Ahrens-Nicklas
The Children’s Hospital of Philadelphia
Philadelphia, PA, United States
Efficacy of cell-type specific rescue in a new mouse model of CLN3 disease
9:00Vera Niederkofler
QPS Austria GmbH
Grambach, Austria
Neuroinflammation in mouse models of two different lysosomal diseases
9:15Kimmo Lehtimäki
Charles River Discovery
Kuopio, Finland
Longitudinal characterization of the Cln8mnd-/- mouse model of CLN8 Batten disease fine motor performance, retinal degeneration, brain pathology, and metabolic changes
9:30Lalitha Belur
University of Minnesota
Minneapolis, MN, United States
Systemic high-level IDUA enzyme activity with correction of neurologic deficit in mucopolysaccharidosis type I mice by ex vivo lentiviral transduction of hematopoietic stem cells
9:45Break & Exhibits 
10:15Dao Pan
Cincinnati Children’s Hospital Medical Center
Cincinnati, OH, United States
miR-143 regulates lysosomal enzyme transport across blood-brain barrier and improves CNS treatment for Hurler syndrome
10:30Natalia Gomez-Ospina
Stanford University
Stanford, CA, United States
Monocyte lineage-specific glucocerebrosidase expression in human hematopoietic stem cells: A universal genome editing strategy for Gaucher disease
10:45Malte Lenders
University Hospital Muenster
Muenster, Germany
Neutralizing anti-drug antibodies inhibit endothelial enzyme uptake and activity in Fabry disease
11:00Zully Pulido
Pontificia Universidad Javeriana
Bogotá D.C., Colombia
Recombinant hexosaminidases conjugated to magnetite nanoparticles: Alternative therapeutic treatment routes in GM2 fibroblasts
11:15Elena V. Batrakova
University of North Carolina
Durham, NC, United States
Extracellular vesicles as drug delivery vehicles for lysosomal enzyme TPP1 to treat Batten disease
11:30Lunch – On Own or Satellite SymposiaExhibit hall is open
11:45Satellite Symposia 

Translational Research I

Co-Chairs: Joseph J. Orsini & Amy Gaviglio

1:00Brian Kevany
Abeona Therapeutics
Cleveland, OH, United States
A novel AAV capsid with improved tropism to heart, kidney and PNS for treatment of Fabry disease
1:15Li Ou
University of Minnesota
Minneapolis, MN, United States
Liver-targeting gene editing achieves significant neurological benefits in MPS I mice
1:30Scott Kerns
Abeona Therapeutics
Cleveland, OH, United States
Combination AAV delivery to target vision loss and CNS manifestations in CLN3 disease
1:45Halil Dundar
Gazi University Faculty of Medicine
Ankara, Turkey
Triamterene-induced suppression of R227X premature termination codon in Fabry disease
2:00Marisa Eve Pulcrano
University of California, San Francisco
San Francisco, CA, United States
Translating a novel fetal therapy for lysosomal diseases into clinical care: The race for approval to treat one patient with mucopolysaccharidosis type VII
2:15Paul J. Orchard
University of Minnesota
Minneapolis, MN, United States
High dose hematopoietic stem cell transplantation leads to rapid hematopoietic and microglial recovery and disease correction in a mouse model of Hurler syndrome
2:30Ari Zimran
Shaare Zedek Medical Center
Jerusalem, Israel
Real life data on the safety and efficacy of ambroxol for patients with Gaucher disease or GBA-related Parkinson disease
2:45Break & Exhibits 
3:15Michael H. Gelb
University of Washington
Seattle, WA, United States
A universal newborn and diagnostic screening platform for lysosomal diseases and beyond
3:30Melissa Wasserstein
Children’s Hospital at Montefiore
Bronx, NY, United States
“ScreenPlus”: A comprehensive, dynamic, multi-disorder newborn screening pilot program
3:45Ankit K. Desai
Duke University
Durham, NC, United States
Benefits of prophylactic short-course immunomodulation in patients with infantile Pompe disease: Demonstration of long-term safety and efficacy in a large cohort
4:00Dominique P. Germain
University of Versailles–
St. Quentin en Yvelines (UVSQ)
Montigny, France
The benefits, challenges and regional differences of family screening in rare genetic diseases: Lessons from Fabry disease
4:15Dau-Ming Niu
Taipei Veterans General Hospital
Taipei, Taiwan
Early detection of the irreversible cardiac damages in the adults with late onset Fabry disease in a large cohort study via newborn screening
4:30Poster Reception in the Exhibit Hall 
6:30Satellite Symposia 

Translational Research (Wednesday 7:30-11:30 AM). Presentations in these sessions 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. Clinical Trials for Registration and Clinical Outcomes (Wednesday 1:00-4:30 PM). These sessions were committed to presentations of results from clinical trials, in most cases, the actual application of new agents in humans affected by these conditions. These sessions included presentations related to re-thinking the definition of biomarkers for lysosomal disease. Download the WORLDSymposium 2020 program (PDF 150KB).

Translational Research II

Co-Chairs: Philip J. Brooks & Ellen Sidransky

6:15Satellite Symposia 
7:30Chester B. Whitley
University of Minnesota
Minneapolis, MN, United States
Welcome & 2020 Patient Advocate Leader Announcement and Presentation to Cara O’Neill
7:45Chester B. Whitley
University of Minnesota
Minneapolis, MN, United States
Keynote Address: Navigating Clinical Trials
8:15Nicholas A. Bascou
University of Pittsburgh Medical Center (UPMC) Children’s Hospital of Pittsburgh
Pittsburgh, PA, United States
A prospective natural history study of metachromatic leukodystrophy: A 20 year study
8:30Derralynn A. Hughes
University College London
London, United Kingdom
First-in-human study of a liver-directed AAV gene therapy (FLT190) in Fabry disease
8:45Margaret McGovern
Stony Brook School of Medicine
Stony Brook, NY, United States
Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: Eleven years of observation
9:00Donna L. Bernstein
Mount Sinai School of Medicine
New York, NY, United States
Lysosomal acid lipase deficiency and hematologic cancer predisposition
9:15Jane Louise Kinsella
Royal Manchester Children’s Hospital
Manchester, United Kingdom
Case report of the first patient treated with ex-vivo autologous haematopoietic stem cell gene therapy transplant in mucopolysaccharidosis type IIIA
9:30Fulvio Mavilio
Audentes Therapeutics
San Francisco, CA, United States
Pre-clinical safety and efficacy findings of AT845, a novel gene replacement therapy for Pompe disease targeting skeletal muscle and heart
9:45Break & Exhibits 
10:15George Karkashadze
Scientific Research Institute of Pediatrics and Child Health CCH RAoS
Moscow, Russian Federation
Abnormalities in the cerebral cortex in Gaucher disease type 1: Findings from the ENIGMA storage disease working group
10:30Erik A. Lykken
University of Texas (UT) Southwestern Medical Center
Dallas, TX, United States
Combination intrathecal and intravenous gene therapy reveals a dominant role for treatment age in determining survival and behavioral outcomes in the mouse model of infantile neuronal ceroid lipofuscinosis
10:45Jacinthe Gingras
Homology Medicines
Bedford, MA, United States
HMI-202: Investigational gene therapy for treatment of metachromatic leukodystrophy (MLD)
11:00Umut Cagin
Genethon
Évry, France
Liver expression of secretable GAA rescues advanced Pompe disease at the biochemical, functional, and transcriptional level in Gaa-/- mice
11:15Carlos J. Miranda
Freeline Therapeutics
Stevenage, United Kingdom
One-off liver directed AAV gene therapy achieves long term uptake of acid beta-glucocerebrosidase by macrophages of affected tissues in Gaucher disease
11:30Lunch – On Own or Satellite SymposiaExhibit hall is open
11:45Satellite Symposia 

Clinical Trials I: Clinical Trials for Registration

Co-Chairs: Stephen C. Groft & Tiina K. Urv

1:00John Mitchell
Montreal Children’s Hospital
Montreal, QC, Canada
Farber disease (acid ceramidase deficiency) natural history study: Prospective and retrospective clinical data
1:15Manisha Balwani
Icahn School of Medicine at Mount Sinai Hospital
New York, NY, United States
Clinical manifestations of lysosomal acid lipase deficiency (LAL-D): The international LAL-D Registry
1:30Christoph Schwering
University Medical Center Hamburg- Eppendorf
Hamburg, Germany
Development of the “Hamburg best practice guidelines for ICV-enzyme replacement therapy (ERT) in CLN2 disease” based on 5 years treatment experience in 48 patients
1:45George Diaz
Icahn School of Medicine at Mount Sinai
New York, NY, United States
Preliminary data from first clinical trial of enzyme replacement therapy with olipudase alfa in pediatric patients with chronic visceral and neurovisceral acid sphingomyelinase deficiency
2:00Nuthana Prathivadi Bhayankaram
Royal Manchester Children’s Hospital
Manchester, United Kingdom
Umbilical cord blood transplant is the preferred stem cell source in children with MPS IH (Hurler syndrome) undergoing hematopoietic stem cell transplantation
2:15Kevin M. Flanigan
Nationwide Children’s Hospital
Columbus, OH, United States
Interim results of Transpher A, a multicenter, single-dose, phase 1/2 clinical trial of ABO-102 gene therapy for Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA)
2:30Frits Wijburg
Amsterdam UMC
Amsterdam, Netherlands
Phase 2-3 gene therapy trial using adeno-associated virus vector for patients with mucopolysaccharidosis type IIIA
2:45Break & Exhibits 
3:15Kim L. McBride
Nationwide Children’s Hospital
Columbus, OH, United States
Safety, tolerability and preliminary evidence of biopotency in Transpher B, a multicenter, single-dose, phase 1/2 clinical trial of ABO-101 gene therapy for Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB)
3:30Raymond Y. Wang
Children’s Hospital of Orange County (CHOC) Children’s Specialists
Orange, CA, United States
Long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis type VII
3:45Julia B. Hennermann
University Medical Center Mainz
Mainz, Germany
Puberty, fertility and pregnancy in patients with mucopolysaccharidosis and mucolipidosis: A multicentre cross-sectional study
4:00Torayuki Okuyama
National Center for Child Health and Development
Tokyo, Japan
Therapy for MPS II with an intravenous blood-brain barrier-crossing enzyme (JR-141): 26-week results from a phase 3 study in Japan suggesting significant efficacy against central nervous system and systemic symptoms
4:15Marc Patterson
Mayo Clinic
Rochester, MN, United States
Efficacy and safety of arimoclomol in patients with Niemann-Pick disease type C: Results from a double-blind, randomized placebo-controlled trial with a novel treatment
4:30Poster Reception in the Exhibit Hall 
6:30Satellite Symposia 

Clinical Trials for Registration and Clinical Outcomes (Thursday 7:30-11:30 AM). These sessions were committed to presentations of results from clinical trials, in most cases, the actual application of new agents in humans affected by these conditions. These sessions included presentations related to re-thinking the definition of biomarkers for lysosomal disease. NEW: Industry Contemporary Forum (Non-CME) (Thursday, 1:00-4:30 PM). These non-CME platform presentations were specifically for corporate first authors and provided attendees with cutting-edge industry research, data and developments. Industry authors who submitted an abstract prior to the October 1, 2019 deadline and selected the abstract category “Contemporary Forum” were included in the abstract review and selection process for this session. (Abstracts from all other categories may be included here if the first author is from industry.) Download the WORLDSymposium 2020 program (PDF 150KB).

Clinical Trials II: Clinical Outcomes

Co-Chairs: Yoshikatsu Eto & Priya S. Kishnani

6:15Satellite Symposia 
7:25Chester B. Whitley
University of Minnesota
Minneapolis, MN, United States
Welcome
7:30Peter Marks
Center for Biologics Evaluation and Research
U.S. Food and Drug Administration
Silver Spring, MD, United States
Keynote Address: The Shift from Personalized to Individualized Therapies
8:00Samuel Gröschel
University Children’s Hospital
Tübingen, Germany
Effect of intrathecal recombinant human arylsulfatase A enzyme replacement therapy on structural brain MRI in children with metachromatic leukodystrophy
8:15Francesca Fumagalli
San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), IRCCS San Raffaele Scientific Institute
Milano, Italy
Lentiviral hematopoietic stem and progenitor cell gene therapy (HSPC-GT) for metachromatic leukodystrophy (MLD): Clinical outcomes from 33 patients
8:30Emily de los Reyes
Nationwide Children’s Hospital
Columbus, OH
Single-dose AAV9-CLN6 gene transfer stabilizes motor and language function in CLN6-type Batten disease: Interim results from the first clinical gene therapy trial
8:45David G. Warnock
University of Alabama
Birmingham, CA, United States
Pegunigalsidase alfa, a novel PEGylated ERT, evaluated in Fabry disease patients with progressing kidney disease, RCT study design
9:00Christoph Wanner
University of Würzburg
Würzburg, Germany
Rationale and design of the MODIFY study: A phase 3 multicenter, double-blind, randomized, placebo-controlled, parallel-group study to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects
9:15Raphael Schiffmann
Baylor Research Institute
Dallas, TX, United States
Venglustat combined with imiglucerase positively affects neurological features and brain connectivity in adults with Gaucher disease type 3
9:30Pramod K. Mistry
Yale University School of Medicine
New Haven, CT, United States
Individual patient responses to eliglustat in treatment-naïve adults with Gaucher disease type 1: Final data from the phase 3 ENGAGE trial
9:45Break 
10:15David Kronn
New York Medical College
Valhalla, NY, United States
Mini-COMET study: Safety, immunogenicity, and preliminary efficacy for repeat avalglucosidase alfa dosing in patients with infantile-onset Pompe disease (IOPD) who were previously treated with alglucosidase alfa and demonstrated clinical decline
10:30Mazen M. Dimachkie
University of Kansas Medical Center
Kansas City, KS, United States
NEO1 and NEO-EXT studies: Long-term safety and exploratory efficacy of repeat avalglucosidase alfa dosing for 5.5 years in late-onset Pompe disease patients
10:45Stephanie Austin
Duke University
Durham, NC, United States
Extended treatment with VAL-1221, a novel protein targeting cytoplasmic glycogen, in patients with late-onset Pompe disease
11:00Paul Harmatz
University of California – San Francisco (UCSF) Benioff Children’s Hospital
Oakland, CA, United States
A new randomized placebo controlled study to establish the safety and efficacy of velmanase alfa (human recombinant alpha-mannosidase) enzyme replacement therapy for the treatment of alpha-mannosidosis
11:15Angela Schulz
University Medical Center Hamburg-Eppendorf
Hamburg, Germany
Cerliponase alfa for the treatment of CLN2 disease in an expanded patient cohort including children younger than three years: Interim results from an ongoing clinical study
11:30Lunch – On Own or Satellite Symposia 
11:45Satellite Symposia 

Contemporary Forum

Co-Chairs: R. Scott McIvor & Anne R. Pariser

The following session is not available for CME/CE accreditation; CEU credits for GCs may apply.

1:00Dwight Koeberl
Duke University School of Medicine
Durham, NC, United States
A phase 1 study of gene therapy with ACTUS-101 in late-onset Pompe disease
1:15Sean M. Armour
Spark Therapeutics, Inc.
Philadelphia, PA, United States
Preclinical development of SPK-3006, an investigational liver-directed AAV gene therapy for the treatment of Pompe disease
1:30Alissa Brandes
Prevail Therapeutics
New York, NY, United States
Gene therapy PR006 increased progranulin levels and improved lysosomal related phenotypes in model systems
1:45Birgitte Volck
AVROBIO, Inc.
Cambridge, MA, United States
Gb3 substrate in endothelial cells of renal peritubular capillaries was reduced in a previously untreated classic Fabry male patient treated with AVR-RD-01 investigational lentiviral gene therapy
2:00Lin Liu
M6P Therapeutics
St. Louis, MO, United States
A new platform technology for next generation lysosomal enzyme replacement and potential gene therapy in the treatment of lysosomal diseases
2:15Manolo Bellotto
Gain Therapeutics
Lugano, Switzerland
Brain penetrant structurally targeted allosteric regulators for treating GLB1-related disorders
2:30Julie C. Ullman
Denali Therapeutics
South San Francisco, CA, United States
Novel FACS based method demonstrates CNS cell-type distribution and efficacy of a BBB penetrant ERT in a mouse model of MPS II
2:45Break 
3:15William Casey Hallows
Codexis
Redwood City, CA, United States
Engineering α-galactosidase A (GLA) to improve protein stability, efficacy and reduced immune response for the treatment of Fabry disease
3:30Nicholas France
E-Scape Bio, Inc.
San Francisco, CA, United States
Sphingosine-1-phosphate receptor type 5 (S1P5) agonism: A potential new mechanism for the treatment of neuronopathic features of Niemann-Pick disease type C and neurodegenerative sphingolipidoses
3:45Linda Ingemann
Orphazyme A/S
Copenhagen N, Denmark
Rescue of NPC1 protein and effect on biomarkers by arimoclomol treatment in Niemann-Pick disease type C
4:00Emanuela Izzo
BioMarin Pharmaceutical Inc.
Novato, CA, United States
Utility of gene panel testing in children with seizure onset after 2 years of age: Results from a European and Middle Eastern epilepsy genetic testing program
4:15R. Scott McIvor
Immusoft Corporation
Seattle, WA, United States
Iduronidase-transposed human B lymphocytes correct enzyme deficiency and glycosaminoglycan storage disease in immunodeficient MPS I mice
4:30-5:30Networking Reception 
5:00-7:00Lysosomal Disease Network (LDN) Annual Meeting