WORLDSymposium^™ 2020 Preliminary Program* on Lysosomal Diseases

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

6:15	Satellite Symposia
7:30	Chester B. Whitley University of Minnesota Minneapolis, MN, United States	Welcome & Presentation of 2020 Roscoe O. Brady Award for Innovation and Accomplishment
7:45	John 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
8:15	Jeffrey 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
8:30	Maria 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
8:45	Rebecca 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
9:00	Vera Niederkofler QPS Austria GmbH Grambach, Austria	Neuroinflammation in mouse models of two different lysosomal diseases
9:15	Kimmo 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
9:30	Lalitha 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
9:45	Break & Exhibits
10:15	Dao 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
10:30	Natalia 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
10:45	Malte Lenders University Hospital Muenster Muenster, Germany	Neutralizing anti-drug antibodies inhibit endothelial enzyme uptake and activity in Fabry disease
11:00	Zully Pulido Pontificia Universidad Javeriana Bogotá D.C., Colombia	Recombinant hexosaminidases conjugated to magnetite nanoparticles: Alternative therapeutic treatment routes in GM2 fibroblasts
11:15	Elena V. Batrakova University of North Carolina Durham, NC, United States	Extracellular vesicles as drug delivery vehicles for lysosomal enzyme TPP1 to treat Batten disease
11:30	Lunch – On Own or Satellite Symposia	Exhibit hall is open
11:45	Satellite Symposia

Translational Research I

Co-Chairs: Joseph J. Orsini & Amy Gaviglio

1:00	Brian Kevany Abeona Therapeutics Cleveland, OH, United States	A novel AAV capsid with improved tropism to heart, kidney and PNS for treatment of Fabry disease
1:15	Li Ou University of Minnesota Minneapolis, MN, United States	Liver-targeting gene editing achieves significant neurological benefits in MPS I mice
1:30	Scott Kerns Abeona Therapeutics Cleveland, OH, United States	Combination AAV delivery to target vision loss and CNS manifestations in CLN3 disease
1:45	Halil Dundar Gazi University Faculty of Medicine Ankara, Turkey	Triamterene-induced suppression of R227X premature termination codon in Fabry disease
2:00	Marisa 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
2:15	Paul 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
2:30	Ari 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
2:45	Break & Exhibits
3:15	Michael H. Gelb University of Washington Seattle, WA, United States	A universal newborn and diagnostic screening platform for lysosomal diseases and beyond
3:30	Melissa Wasserstein Children’s Hospital at Montefiore Bronx, NY, United States	“ScreenPlus”: A comprehensive, dynamic, multi-disorder newborn screening pilot program
3:45	Ankit 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
4:00	Dominique 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
4:15	Dau-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
4:30	Poster Reception in the Exhibit Hall
6:30	Satellite 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

6:15	Satellite Symposia
7:30	Chester B. Whitley University of Minnesota Minneapolis, MN, United States	Welcome & 2020 Patient Advocate Leader Announcement and Presentation to Cara O’Neill
7:45	Chester B. Whitley University of Minnesota Minneapolis, MN, United States	Keynote Address: Navigating Clinical Trials
8:15	Nicholas 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
8:30	Derralynn A. Hughes University College London London, United Kingdom	First-in-human study of a liver-directed AAV gene therapy (FLT190) in Fabry disease
8:45	Margaret 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
9:00	Donna L. Bernstein Mount Sinai School of Medicine New York, NY, United States	Lysosomal acid lipase deficiency and hematologic cancer predisposition
9:15	Jane 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
9:30	Fulvio 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
9:45	Break & Exhibits
10:15	George 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
10:30	Erik 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
10:45	Jacinthe Gingras Homology Medicines Bedford, MA, United States	HMI-202: Investigational gene therapy for treatment of metachromatic leukodystrophy (MLD)
11:00	Umut Cagin Genethon Évry, France	Liver expression of secretable GAA rescues advanced Pompe disease at the biochemical, functional, and transcriptional level in Gaa-/- mice
11:15	Carlos 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
11:30	Lunch – On Own or Satellite Symposia	Exhibit hall is open
11:45	Satellite Symposia

Clinical Trials I: Clinical Trials for Registration

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

1:00	John Mitchell Montreal Children’s Hospital Montreal, QC, Canada	Farber disease (acid ceramidase deficiency) natural history study: Prospective and retrospective clinical data
1:15	Manisha 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
1:30	Christoph 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
1:45	George 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
2:00	Nuthana 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
2:15	Kevin 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)
2:30	Frits Wijburg Amsterdam UMC Amsterdam, Netherlands	Phase 2-3 gene therapy trial using adeno-associated virus vector for patients with mucopolysaccharidosis type IIIA
2:45	Break & Exhibits
3:15	Kim 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)
3:30	Raymond 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
3:45	Julia B. Hennermann University Medical Center Mainz Mainz, Germany	Puberty, fertility and pregnancy in patients with mucopolysaccharidosis and mucolipidosis: A multicentre cross-sectional study
4:00	Torayuki 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
4:15	Marc 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
4:30	Poster Reception in the Exhibit Hall
6:30	Satellite 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

6:15	Satellite Symposia
7:25	Chester B. Whitley University of Minnesota Minneapolis, MN, United States	Welcome
7:30	Peter 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
8:00	Samuel 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
8:15	Francesca 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
8:30	Emily 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
8:45	David 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
9:00	Christoph 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
9:15	Raphael 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
9:30	Pramod 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
9:45	Break
10:15	David 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
10:30	Mazen 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
10:45	Stephanie 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
11:00	Paul 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
11:15	Angela 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
11:30	Lunch – On Own or Satellite Symposia
11:45	Satellite 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.

1:00	Dwight 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
1:15	Sean 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
1:30	Alissa Brandes Prevail Therapeutics New York, NY, United States	Gene therapy PR006 increased progranulin levels and improved lysosomal related phenotypes in model systems
1:45	Birgitte 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
2:00	Lin 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
2:15	Manolo Bellotto Gain Therapeutics Lugano, Switzerland	Brain penetrant structurally targeted allosteric regulators for treating GLB1-related disorders
2:30	Julie 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
2:45	Break
3:15	William 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
3:30	Nicholas 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
3:45	Linda Ingemann Orphazyme A/S Copenhagen N, Denmark	Rescue of NPC1 protein and effect on biomarkers by arimoclomol treatment in Niemann-Pick disease type C
4:00	Emanuela 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
4:15	R. 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
4:30-5:30	Networking Reception
5:00-7:00	Lysosomal Disease Network (LDN) Annual Meeting