WORLDSymposium 2016 Program

1:00 – 5:00 Pre-Conference Symposium Emerging Trends: State of the Art for Experts
(Registration required)
5:15 Handprints Across America Please join other WORLDSymposium attendees in the Palm Foyer for a Rare Disease Day Handprints Across America photo from WORLDSymposium.
6:00 – 8:00 Satellite Symposium
Supported by PTC Therapeutics
MPS I: New horizons and opportunities for change

Basic and bench research. Following the opening remarks, 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. On Tuesday, the noon hour is reserved for a meeting with the WORLDSymposia Council of Patient Advocates (COPA)™ that focuses on patient involvement in research planning and subject recruitment. Download the WORLDSymposium 2016 program (PDF 275KB).

Basic Science I

Co-Chairs: Walter Low, Danuta Krotoski, Gregory Grabowski

6:30 Satellite Symposium
Supported by BioMarin Pharmaceutical Inc.
Optimizing Treatment in Morquio A: Capturing multi-domain impact through patient-directed outcomes
7:50 Chester B. Whitley
University of Minnesota
Minneapolis, MN, United States
Welcome and Opening Remarks
8:00 WORLDSymposium 2016 Award for Innovation and Accomplishment
8:30 Chrissa Dwyer
University of California San Diego
La Jolla, CA, United States
Lysosomal degradation of heparan sulfate is required for normal development of the neural circuitry
8:45 Camila de Aragao
CHU Sainte-Justine Mother and Child University Hospital Center
Montreal, QC, Canada
Synaptic dysfunction in Sanfilippo syndrome type C
9:00 Vincent Puy
CHU Amiens, Centre de Biologie Humaine
Amiens, France
Alteration of cerebral iron metabolism in Sanfilippo syndrome
9:15 S. Pablo Sardi
Genzyme, a Sanofi company
Framingham, MA, United States
Glucosylceramide synthase inhibition reduces α-synuclein pathology and improves cognition in murine models of synucleinopathy
9:30 Mia Horowitz
Tel Aviv University
Ramat Aviv, Israel
Presence of mutant GBA allele leads to ER stress and development of Parkinson’s disease
9:45 Yvonne L. Latour
National Institutes of Health
Bethesda, MD, United States
Development of isogenic human cerebral organoids with beta-galactosidase deficiency
10:00 Break & Exhibits
10:15 Manoj K. Pandey
Cincinnati Children’s Hospital Medical Center
Cincinnati, OH, United States
Immune cells attack and neurodegeneration in Gaucher disease
10:30 Debora Bertholdo
DAPI – Diagnóstico Avançado por Imagem
Curitiba, Brazil
Structural changes in the brain of patients with Gaucher disease
10:45 Volkan Seyrantepe
Izmir Institute of Technology
Izmir, Turkey
Deletion of sialidase NEU3 causes progressive neurodegeneration in Tay-Sachs mice
11:00 Andreas Schaaf
Greenovation Biotech GmbH
Freiburg, Germany
Moss−aGal: preclinical evaluation of a plant made enzyme replacement for Fabry disease
11:15 Jin-Song Shen
Baylor Research Institute
Dallas, TX, United States
Sortilin expression and uptake of α-galactosidase A: a general mechanism of endocytosis in Fabry disease cell types
11:30 Lunch Break Council of Patient Advocates (COPA) Lunch Meeting

or Lunch Satellite Symposium
Non-immune hydrops fetalis (NIHF) in lysosomal storage diseases
Supported by Ultragenyx Pharmaceutical Inc.

or Lunch on Your Own

Basic Science II

Co-Chairs: Scott McIvor, Rashmi Gopal-Srivastava

1:00 Takahiro Tsukimura
Meiji Pharmaceutical University
Kiyose, Japan
Anti-α-galactosidase A antibodies and serum-mediated inhibition in Fabry disease
1:15 Derrick T. Deming
University of Massachusetts Amherst
Amherst, MA, United States
The molecular basis of Pompe disease: crystal structure of acid alpha-glucosidase
1:30 Nina Raben
National Institutes of Health
Bethesda, MD, United States
Pompe disease: from pathophysiology to therapy and back again
1:45 Richard Steet
University of Georgia
Athens, GA, United States
Cathepsin-mediated alterations in TGF-β related signaling underlie the cartilage and bone defects associated with impaired lysosomal targeting
2:00 Zhirui Jiang
The University of Adelaide
Adelaide, Australia
Reduced chondrocyte proliferation and hypertrophy contribute to delayed endochondral bone formation in murine mucopolysaccharidosis VII
2:15 Alessandra d’Azzo
St.Jude Children’s Research Hospital
Memphis, TN, United States
Pathogenic cascade downstream of NEU1 regulated lysosomal exocytosis
2:30 Jonathan H. LeBowitz
BioMarin
Novato, CA, United States
Utilizing activity assays and population-wide allele frequencies to assess the contribution of novel mutations in NAGLU to MPS IIIB incidence
2:45 Break & Exhibits
3:00 Maria Fuller
SA Pathology
North Adelaide, Australia
Manipulation of regional brain bis(monoacylglycero)phosphate in the MPS I mouse by dietary fatty acid supplementation
3:15 Kanut Laoharawee
University of Minnesota
Minneapolis, MN, United States
AAV9 mediated correction of iduronate-2-sulfatase deficiency in the central nervous system of mucopolysaccharidosis type II mice
3:30 Kanagaraj Subramanian
The Scripps Research Institute
La Jolla, CA, United States
Quantitative analysis of the proteome response to histone deacetylase inhibitor in Niemann-Pick disease
3:45 Li Ou
Department of Pediatrics, University of Minnesota
Minneapolis, MN, United States
ZFN-mediated correction of murine MPS I model by expression of the human IDUA cDNA from the albumin “safe harbor” locus
4:00 Richie Khanna
Amicus Therapeutics
Cranbury, NJ, United States
Co-administration of the pharmacological chaperone AT2221 with a proprietary recombinant human acid alfa-glucosidase leads to greater plasma exposure and substrate reduction compared to alglucosidase alfa
4:15 Mustafa A. Kamani
University Health Network
Toronto, ON, Canada
Reduced glucocerebrosidase activity improves acid ceramidase deficient mice
4:30 Poster Reception & Presentation
6:30 Satellite Symposium
Supported by Amicus Therapeutics
The Many Faces of Lysosomal Disease: A Global Perspective

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. Download the WORLDSymposium 2016 program (PDF 275KB).

Translational Research I

Co-Chairs: Jill Morris, Raphael Schiffmann

6:30 Satellite Symposium
Supported by Shire
Discovery and Research Platforms in Rare Disease
7:50 Chester B. Whitley
University of Minnesota
Minneapolis, MN, United States
Announcements
8:00 Christopher P. Austin
National Center for Advancing Translational Sciences (NCATS) at the National Institutes of Health (NIH).
Keynote Speaker: Catalyzing Translational Innovation
8:30 Lalitha Belur
University of Minnesota
Minneapolis, MN, United States
Intranasal gene delivery of AAV9 iduronidase: a non-invasive and effective gene therapy approach for prevention of neurologic disease in a murine model of mucopolysaccharidosis type I
8:45 Tammy Kielian
University of Nebraska Medical Center
Omaha, NE, United States
Adeno-associated virus 9 gene therapy for juvenile neuronal ceroid lipofuscinosis
9:00 Walter L. Acosta
BioStrategies LLC
State University, AR, United States
Lectin-mediated delivery of α-L-iduronidase: a novel approach for MPS I enzyme replacement therapy
9:15 Elma Aflaki
NIH/NHGRI
Bethesda, MD, United States
iPSC-derived dopaminergic neurons from patients with Gaucher disease and Parkinsonism demonstrate the potential of a new glucocerebrosidase chaperone
9:30 Allison Bradbury
University of Pennsylvania
Philadelphia, PA, United States
Natural history study and preliminary assessment of therapies in canine globoid cell leukodystrophy
9:45 Haiyan Fu
Research Institute at Nationwide Children’s Hospital
Columbus, OH, United States
Functional benefits of systemic rAAV9-HIDS gene delivery in MPS II mouse model
10:00 Break & Exhibits  
10:15 Behzad Najafian
University of Washington
Seattle, WA, United States
Podocyte globotriaosylceramide (GL-3) content in male adult patients with Fabry disease reduces following 6-12 months of treatment with migalastat
10:30 Baodong Sun
Duke University School of Medicine
Durham, NC, United States
New perspectives for ERT in Pompe disease: extending the action of the enzyme to cytosolic targets
10:45 Mark Tarnopolsky
McMaster University
Hamilton, ON, Canada
Exosome-mRNA and exosome-protein therapy for Niemann-Pick disease type C
11:00 Rasa Ghaffarian
University of Maryland
College Park, MD, United States
ICAM-1 targeting by direct conjugation enhances gastrointestinal transcytosis and encapsulation enables gastric protection and controlled released for oral enzyme delivery
11:15 Sang-oh Han
Duke University Medical Center
Durham, NC, United States
Minimum effective dose for immune tolerance induction with an adeno-associated virus vector in Pompe disease
11:30 Lunch Break Lunch Satellite Symposium
From diagnosis to treatment: a multidisciplinary approach for the management of Type I Gaucher disease
Supported by Shire International
or Lunch on Your Own

Translational Research II

Co-Chairs: Danilo Tagle, Dolan Sondhi

1:00 Rachel L. Manthe
University of Maryland
College Park, MD, United States
Enhanced lysosomal enzyme delivery across the blood-brain barrier by modulating the valency of ICAM-1-targeted nanocarriers
1:15 Adeel Safdar
McMaster University
Hamilton, ON, Canada
Exosome-mRNA (EXERNA) therapy for Pompe disease
1:30 Heather L. Gray-Edwards
Auburn University
Auburn University, AL, United States
Long term survival after gene therapy in a feline model of Sandhoff disease
1:45 Alia Ahmed
University of Minnesota
Minneapolis, MN, United States
Association of physical symptom score (PSS) with age and cognitive measures in attenuated mucopolysaccharidosis types I, II and VI
2:00 Mika Aoyagi-Scharber
BioMarin Pharmaceutical Inc.
Novato, CA, United States
Time- and dose-dependent normalization of pathological lysosomal storage and biochemistry in the mucopolysaccharidosis ΙΙΙΒ (MPS ΙΙΙΒ, Sanfilippo Β) mouse model by intracerebroventricular enzyme replacement therapy with ΒΜΝ 250, a ΝAGLU-ΙGF2 fusion protein
2:15 Lauren C Boudewyn
Albert Einstein College of Medicine
Bronx, NY, United States
Assessment of n-butyl-deoxynojirimycin as a therapeutic option for mucolipidosis type IV
2:30 Russell DeKelver
Sangamo BioSciences
Richmond, CA, United States
ZFN-mediated in vivo genome editing results in supraphysiological levels of human iduronate 2-sulfatase and phenotypic correction in a murine MPS II model
2:45 Break & Exhibits
3:00 Coy Heldermon
University of Florida
Gainesville, FL, United States
MRI findings reveal corollaries in brain pathology between murine and human MPS IIIB brains
3:15 Zoheb B. Kazi
Duke University
Durham, NC, United States
Prophylactic immune modulation in infantile Ρompe disease using low-dose methotrexate induction: a safe, inexpensive, widely accessible, and efficacious strategy
3:30 Yedda 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
3:45 Aaron Meadows
Research Institute at Nationwide Children’s Hospital
Columbus, OH, United States
Functional correction of mucopolysaccharidosis I in adult mice by a systemic rAAV9-IDUA gene delivery
4:00 Angela Schulz
University Medical Center Hamburg-Eppendorf, Hamburg, Germany
Intracerebroventricular cerliponase alfa (BMN 190) in children with CLN2 disease: Interim results from a phase 1/2, open-label, dose-escalation study
4:15 Gizely N. Andrade
Albert Einstein College of Medicine
Bronx, NY, United States
Multisensory processing in lysosomal disorders: a behavioral and high-density electrophysiology investigation in Niemann-Pick disease type C and cystinosis
4:30 Poster Reception & Presentation
6:30 Satellite Symposium
CME Satellite Sponsored by MedIQ. Supported by an educational grant from Sanofi Genzyme

How Early is Early? When to Start ERT and Other Considerations for Optimizing Treatment of Fabry Disease

Clinical research. The entire third day is committed to presentations of results from clinical trials, in most cases, 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 2016 program (PDF 275KB).

Clinical Trials I

Co-Chairs: Stephen Groft, Elsa Shapiro

6:30 Satellite Symposium
Supported by BioMarin Pharmaceutical Inc.
Recognizing the signs of CLN2 disease – emerging evidence for a paradigm shift in CLN2 diagnosis
7:50 Chester B. Whitley
University of Minnesota
Minneapolis, MN, United States
Announcements
8:00 Barbara K. Burton
Ann & Robert H. Lurie Children’s Hospital
Chicago, IL, United States
Newborn screening for lysosomal diseases in Illinois
8:15 Renuka P. Limgala
Lysosomal and Rare Disorders Research and Treatment Center
Fairfax, VA, United States
Selective large scale screening for lysosomal disorders in minority groups shows higher incidence rates
8:30 Arunabha Ghosh
St Mary’s Hospital
Manchester, United Kingdom
IDUA mutational profile and genotype-phenotype correlations in mucopolysaccharidosis type I
8:45 Hernan Amartino
Hospital Universitario Austral
Buenos Aires, Argentina
New measure to assess severity of MPS II: the disease severity score
9:00 Nathan J. Rodgers
University of Minnesota
Minneapolis, MN, United States
Thirty year follow-up in Hurler syndrome after hematopoietic cell transplantation: the University of Minnesota experience
9:15 Christian J. Hendriksz
Salford Royal Foundation NHS Trust
Salford, United Kingdom
Impact of long-term elosulfase alfa treatment on pulmonary function in patients with Morquio syndrome type A
9:30 Paul R. Harmatz
UCSF Benioff Children’s Hospital Oakland
Oakland, CA, United States
Impact of elosulfase alfa in patients with Morquio syndrome type A who have limited ambulation: an open-label, phase 2 study
9:45 Deborah Elstein
Shaare Zedek Medical Center, affiliated with the Hebrew University-Hadassah Medical School
Jerusalem, Israel
Therapeutic goals and normal clinical values achieved within 4 years of initiating velaglucerase alfa in treatment-naïve patients with Gaucher disease in phase 3 studies
10:00 Break & Exhibits
10:15 Timothy M. Cox
University of Cambridge, Addenbrooke’s Hospital
Cambridge, United Kingdom
Four-year follow-up from the ENCORE trial: a randomized, controlled, non-inferiority study comparing eliglustat to imiglucerase in patients with Gaucher disease type 1 stabilized on enzyme replacement therapy
10:30 Patrick B. Deegan
Addenbrooke’s Hospital
Cambridge, United Kingdom
Risk factors for fracture in imiglucerase-treated Gaucher disease type 1 patients in the ICGG Gaucher Registry
10:45 Magy Abdelwahab
Cairo University Pediatric Hospital
Cairo, Egypt
Long-term follow up and sudden unexpected death in Gaucher disease type 3 in Egypt
11:00 Raul Chertkoff
Protalix BioTherapeutics
Carmiel, Israel
Long-term efficacy and safety results of taliglucerase alfa through 5 years in adult treatment-naïve patients with Gaucher disease
11:15 Gerald Cox
Sanofi Genzyme
Cambridge, MA, United States
Functional performance in patients with late-onset Tay-Sachs and Sandhoff diseases
11:30 Lunch Break
Supported by Sanofi Genzyme

Patients, exogenous enzymes, and substrate synthesis inhibition: A quarter-century of managing Gaucher disease
Lunch Satellite Symposium

or Lunch on Your Own

Clinical Trials II

Co-Chairs: James Cloyd, Ari Zimran

1:00 Luciana Giugliani
Hospital de Clínicas de Porto Alegre
Porto Algre, Brazil
Disease duration and survival in Brazilian Niemann-Pick disease type C patients: Preliminary data on potential impact of miglustat
1:15 Forbes D. Porter
NIH
Bethesda, MD, United States
Phase 1/2 evaluation of intrathecal 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick disease, type C1
1:30 Christine Dali
Department of Clinical Genetics, Rigshospitalet
Copenhagen, Denmark
Intrathecal delivery of recombinant human arylsulfatase A in children with late-infantile metachromatic leukodystrophy
1:45 Loren Pena
Duke University
Durham, NC, United States
Phase 1 exploratory efficacy of the novel enzyme replacement therapy neoGAA in treatment-naïve and alglucosidase alfa-treated late-onset Pompe disease patients
2:00 Mark Friedman
Alexion Pharmaceuticals, Inc.
Lexington, MA, United States
Safety findings from 3 trials of treatment with sebelipase alfa in children and adults with lysosomal acid lipase deficiency
2:15 Simon A. Jones
Manchester Centre for Genomic Medicine, St Mary’s Hospital, Central Manchester Foundation Trust, University of Manchester
Manchester, United Kingdom
Effect of sebelipase alfa on survival and liver function in infants with rapidly progressive lysosomal acid lipase deficiency: 2-year follow-up data
2:30 Robert J. Desnick
Icahn School of Medicine at Mount Sinai
New York, NY, United States
Evolution of cardiac pathology in type 1 classic Fabry disease: progressive cardiomyocyte enlargement leads to increased cell death and fibrosis, and correlates with severity of ventricular hypertrophy
2:45 Break  
3:00 Franklin K. Johnson
Amicus Therapeutics
Cranbury, NJ, United States
Comparison of integrated white blood cell alpha-galactosidase A activity exposure between every-other-day orally administered migalastat and biweekly infusions of agalsidase beta or agalsidase alfa
3:15 Derralynn Hughes
University College London
London, United Kingdom
Novel treatment for Fabry disease – IV administration of plant derived alpha-GAL-A enzyme safety and efficacy interim report
3:30 Patricio Aguiar
Centro Hospitalar Lisboa Norte
Lisbon, Portugal
Urinary type VI collagen: better than albuminuria to identify incipient Fabry nephropathy
3:45 David G. Warnock
UAB
Birmingham, AL, United States
Anti-proteinuric therapy and Fabry nephropathy; factors associated with preserved kidney function during agalsidase-beta therapy
4:00 Dau-Ming Niu
Taipei Veteran General Hospital
Taipei, Taiwan
Revisited later-onset cardiac type Fabry disease – cardiac damages progressed in silence – experiences from an extremely high prevalent area, Taiwan
4:15 Suma P. Shankar
Emory University School of Medicine
Atlanta, GA, United States
Eye findings in Fabry disease and correlation with disease severity
6:00 Banquet and Award Ceremony