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  Previous Meetings:
 

 

ANNUAL SYMPOSIUM 2010
(February 2010, Miami, FL, USA)
download .pdf 

 

ANNUAL SYMPOSIUM 2009
(February 2009, San Diego, CA, USA)
Program

ANNUAL SYMPOSIUM 2008
(February 2008, Las Vegas, NV, USA)
Meeting Program Now Online!

And as a .pdf file
 

ANNUAL SYMPOSIUM 2006

Update: The Proceedings of the LDN WORLD Symposium 2006 are now published in the December 2007 issue of
Molecular Genetics and Metabolism

(Volume 92, Issue 4, Pages S1-S34, 287-378)


ANNUAL SYMPOSIUM 2005
Program and Abstracts (640kb .pdf file)

ANNUAL SYMPOSIUM 2004
Program


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10th Annual
WORLDSymposium
San Diego, CA - USA
February 11-13, 2014


February 11-13: "WORLD Symposium"

February 10 : "Lysosomes 101"

February 14 : "NIH-funded LDN Investigator's Meeting"


Register for the WORLD Symposium 2014

Abstract submissions are closed.

The Symposium will take place at

The Manchester Grand Hyatt
One Market Place
San Diego, CA - USA



Our room block at the Manchester Grand Hyatt IS SOLD OUT!

NEW THIS YEAR at the 10th Annual WORLDSymposium 2014

TOOLKIT: Workshop on 'Tools' for assessment of brain structure and function           
Tuesday, February 11, 2014:   6-8 PM
Agenda:

  1. Introduction to evaluation of disease progression and treatment effects in neurodegenerative disease (Elsa Shapiro, PhD, University of MN, Minneapolis, MN)
  2. Neurocognitive assessment techniques in young and impaired children  (Kathleen Delaney, University of MN, Minneapolis, MN)
  3. Volumetric and other types of MRI assessment (Igor Nestrasil, University of MN, Minneapolis, MN)
  4. Panel of experts:  
    1. Jonathan Mink:  Disease-specific clinical rating scales;
    2. Maria Escolar:  Tractography; 
    3. Jonathan Dyke: MR Spectroscopy;
    4. James Provenzale: DTI

This program is intended to provide a discussion of challenges to data collection and ways to overcome these challenges to produce valid and reliable research data.  There will be short presentations and discussion.  The target audience is new researchers in lysosomal diseases as well as to experienced researchers to exchange ideas.  This workshop will be oriented to techniques, not to results. Register online for this session for only $35 at the early discount rate. ($55 after January 10, 2014)
 
Register Now!
A discounted rate is in effect for early registrations. To ensure the discounted rate, please go to the WORLDSymposium website at www.WORLDSymposium2014.com.

Tuesday, February 11, 2014

Basic Science I       Co-Chairs: Roscoe Brady and Perry Hackett

8:00

Chester B Whitley

University of Minnesota

Minneapolis, MN, United States

Welcome and opening remarks

 

8:15

Gregory A Grabowski

Cincinnati Children's Hospital Medical Center

Cincinnati, OH, United States

Keynote address: How did we get here, and where are we going?

 

8:45

Kirsten E McKay

Birmingham Women's Hospital

Birmingham, United Kingdom

Detection of Niemann-Pick disease type C mutations in infants with liver disease using targeted next generation sequencing

 

9:00

Emyr Lloyd-Evans

Cardiff University

Cardiff, United Kingdom

Uncovering the mechanism by which miglustat mediates benefit in NPC disease; role of acid sphingomyelinase in NPC disease pathogenesis

 

9:15

Mengqiao Wang

National Center for Advancing Translational Sciences,

National Institutes of Health

Rockville, MD, United States

Delta-tocopherol facilitates generation of induced pluripotent stem cells from fibroblasts with Niemann-Pick disease type C

 

9:30

Yoshikatsu Eto

Institute of Neurological Disease

Kawasaki City, Japan

Generation and application of iPS cells for lysosomal disorders

 

9:45

Jeong-A Lim

NIAMS/NIH

Bethesda, MD, United States

Mitochondrial abnormalities in Pompe disease

 

10:00

Break & Exhibits

 

 

 

 

10:15

Paula Rozenfeld

Universidad Nacional de La Plata, LISIN

La Plata, Argentina

Osteoclastogenesis functional study of osteoclasts precursors from Gaucher disease patients

 

10:30

Rick Hamler

Amicus Therapeutics

Cranbury, NJ, United States

Glucosylceramide and glucosylsphingosine quantitation by liquid chromotography-tandem mass spectrometry to enable studies of neuronopathic Gaucher disease

 

10:45

Mia Horowitz

Tel Aviv University

Ramat Aviv, Israel

The connection between ERAD, UPR, Gaucher disease and Parkinson disease

 

11:00

Gheona Altarescu

Shaare Zedek Medical Center

Jerusalem, Israel

α-Synuclein polymorphisms in patients with Gaucher disease and Parkinson disease

 

11:15

Manoj K Pandey

Division of Human Genetics, Cincinnati Children?s Hospital Medical Center

Cincinnati, OH, United States

Gaucher disease: glucosylceramide-mediated TLR4-MyD88 induction cause enhanced CXCL-13 secretion and increased B cell trafficking in a mouse model

 

11:30

Lunch Break

 

 

 

 

 

Basic Science II     Co-Chairs: Elizabeth Neufeld and Scott McIvor

 

 

 

1:00

Anatália Labilloy

University of Pittsburgh

Pittsburgh, PA, United States

Altered dynamics of a lipid raft associated protein in a kidney model of Fabry disease

 

1:15

Xingli Meng

Baylor Research Institute

Dallas, TX, United States

Abnormal intracellular calcium handling: a key pathogenic and therapeutic target of the cardiac manifestations in Fabry disease

 

1:30

Haiyan Fu

Research Institute at Nationwide Children's Hospital

Columbus, OH, United States

Correction of broad molecular impairments in a mouse model of MPS IIIA by systemic rAAVrh74-hSGSH gene delivery

 

1:45

Janine Gilkes

University of Florida

Gainesville, FL, United States

AAV8 is preferential candidate for neonatal gene transfer in Sanfilippo syndrome type B model

 

2:00

Keisuke Kitakaze

The University of Tokushima

Tokushima, Japan

Replacement effects of human modified lysosomal β-hexosaminidase B on Tay-Sachs and Sandhoff disease models and Imaging with novel pH-activatable fluorescent probes

 

2:15

Shaalee Dworski

University of Toronto

Toronto, ON, Canada

Altered MCP-1 and ceramide metabolite levels in serum from Farber mice and Farber patients

 

2:30

Raymond Y Wang

CHOC Children's Specialists

Orange, CA, United States

Aortic gene expression from the canine model of MPS I identifies upregulation of genes related to antigen presentation and inflammatory cytokines, and downregulation of cellular adhesion and cytoskeletal genes

 

2:45

Jan Lukas

University of Rostock

Rostock, Germany

Small molecule enhancers for mutant enzymes in lysosomal disorders

 

3:00

Break & Exhibits

 

 

 

 

3:15

Jessica L Fletcher

The University of Sydney

Camperdown NSW, Australia

Early molecular changes in canine fucosidosis

 

3:30

Brittney Gurda

University of Pennsylvania

Philadelphia, PA, United States

Gene therapy for mucopolysaccharidosis VII: Evaluation of intrathecal rAAV vectors in the canine model

 

3:45

Yi Lun

Amicus Therapeutics

Cranbury, NJ, United States

Subcutaneous administration of recombinant human acid α-glucosidase co-formulated with the pharmacological chaperone AT2220 leads to lysosomal uptake of rhGAA and glycogen reduction in disease-relevant tissues of Pompe disease mice

 

4:00

Noriko Miyake

Nippon Medical School

Tokyo, Japan

Gene therapy of MLD model mice by intrathecal and intravenous injection of AAV9 vector

 

4:15

Volkan Seyrantepe

Izmir Institute of Technology

Izmir, Turkey

Mass spectrometry and thin layer chromatography analysis of brain gangliosides in Tay-Sachs disease mouse models

 

 

Wednesday, February 12, 2014

 

Translational Research I      Co-Chairs: Greg Grabowski and Kathy Ponder

 

8:00

Featured Presentation

 

 

 

 

8:30

Tomo Sawada

Albert Einstein College of Medicine

Bronx, NY, United States

Farber disease: characterization of behavior and brain pathology in a new murine model

 

8:45

Martina Cesani

San Raffaele Scientific Institute

Milan, Italy

Metallothionein transcripts are dynamic markers for brain disease in lysosomal disorders

 

9:00

Kathryn B Sheets

Duke University Medical Center

Durham, NC, United States

The emerging natural history of cross-reactive immunologic material (CRIM)-negative Infantile Pompe disease patients treated with recombinant human GAA

 

9:15

Tyler Mark Pierson

Cedars-Sinai Medical Center

Los Angeles, CA, United States

Hereditary spastic paraplegias types 15 and 11 are associated with lysosomal abnormalities

 

9:30

Frits A Wijburg

Academic Medical Center (AMC)

Amsterdam, Netherlands

Early phenotype prediction in mucopolysaccharidosis type I based on genotype, residual enzyme activity and clinical characteristics: a prerequisite for introduction of newborn screening

 

9:45

Sandra Leistner-Segal

Hospital de Clínicas de Porto Alegre

Porto Alegre/RS, Brazil

Prediction of the molecular consequences of amino acid substitutions in the GALNS gene using in silico tools

 

10:00

Break & Exhibits

 

 

 

 

10:15

Patrick V Hopkins

Missouri State Public Health Laboratory

Jefferson City, MO,

United States

Missouri's first year experience with full population pilot screening for Pompe, Gaucher, Fabry and Hurler disorders using digital microfluidics methodology

 

10:30

Yin-Hsiu Chien

National Taiwan University Hospital

Taipei, Taiwan

Survival and developmental milestones among Pompe Disease Registry patients with classic infantile-onset Pompe disease with different timing of initiation of treatment with enzyme replacement therapy (ERT)

 

10:45

Ying Sun

Cincinnati Children's Hospital Medical Center

Cincinnati, OH, United States

Clinical, biochemical and histopathological effects of 11 years of enzyme therapy in Gaucher disease type 3: unexpected CNS vascular and cellular manifestations

 

11:00

Javier Gervas-Arruga

IACS

Zaragoza, Spain

Influence of genetic variability related to bone remodeling and cytokine profile in the development of bone involvement in Gaucher disease

 

11:15

Tama Dinur

Shaare Zedek Medical Center

Jerusalem, Israel

Parkinson disease penetrance in patients with Gaucher disease and in glucocerebrosidase mutation carriers

 

11:30

Lunch Break

 

 

 

 

 

Translational Research II      Co-Chairs: Walter Low and Patti Dickson

 

 

 

1:00

Eveline Langereis

Academic Medical Center Amsterdam

Amsterdam, Netherlands

Biomarker levels in MPS I patients on long term enzyme replacement therapy: correlations with antibody levels and antibody mediated cellular uptake inhibition

 

1:15

Ari Zimran

Gaucher Clinic, Shaare Zedek Medical Center

Jerusalem, Israel

Oral administration of glucocerebrosidase for the treatment of Gaucher disease: a completely new approach

 

1:30

Gwendolyn G Gunn

University of Alabama at Birmingham

Birmingham, AL, United States

Long-term nonsense suppression therapy with NB84 moderates MPS IH disease progression

 

1:45

Calogera M Simonaro

Icahn School of Medicine at Mount Sinai

New York, NY, United States

Comparison of subcutaneous and oral pentosan polysulfate treatment in a rat model of mucopolysaccharidosis type VI

 

2:00

Joseph V Rutkowski

Synageva BioPharma

Lexington, MA, United States

Intravenous SBC-103, a recombinant human alpha-n-acetylglucosaminidase reduces CNS heparan sulfate content in a mucopolysaccharidosis IIIB mouse model

 

2:15

Jean E Lachowicz

Angiochem

Montreal, QC, Canada

Using the peptide angiopep-2 to create a GFP fusion protein with the ability to cross the blood-brain barrier and enter cells in the mouse brain

 

2:30

Shih-hsin Kan

Harbor-UCLA/LABioMed

Torrance, CA, United States

Intracerebroventricular enzyme replacement therapy with glycosylation-independent lysosomal targeted NAGLU leads to widespread enzymatic activity, reduction of lysosomal storage and of secondary defects in brain of Sanfilippo syndrome type B mice

 

2:45

Hung Do

Callidus Biopharma, Inc.

Doylestown, PA, United States

Chemical conjugation of targeting peptide to ERT substantially improves binding for intended receptor and in vivo efficacy for clearing accumulated substrate in mouse models

 

3:00

Break & Exhibits

 

 

 

 

3:15

Ruben J Boado

ArmaGen Technologies

Calabasas, CA, United States

Re-engineering iduronate 2-sulfatase for penetration of the blood-brain barrier via transport on the insulin receptor

 

3:30

Dao Pan

Cincinnati Children's Hospital Medical Center

Cincinnati, OH, United States

Metabolic normalization and improvement of CNS deficits in mice with MPS I after long-term peripheral delivery of blood-brain barrier-targeted iduronidase

 

3:45

R. Scott McIvor

University of Minnesota

Minneapolis, MN, United States

Intrathecal and intranasal infusion of adeno-associated virus vector: non-invasive routes of administration achieving corrective levels of iduronidase expression throughout the brain for gene therapy of mucopolysaccharidosis type I

 

4:00

Christian J. Hendriksz

Salford Royal NHS Foundation Trust

Salford, United Kingdom

Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment

 

4:15

Stephanie Cherqui

University of California, San Diego

La Jolla, CA, United States

Hematopoietic stem cell gene therapy for cystinosis: a new hope for a multi-systemic degenerative disorder

 

4:30

Break & Exhibits

 

 

 

 

Thursday, February 13, 2014

 

Clinical Trials II     Co-Chairs: Ellen Sidransky and David Pearce

 

8:00

Stephanie Austin

Duke University Medical Center

Durham, NC, United States

Quantitative whole-body muscle MRI, clinical muscle group weakness, and muscle-map correlation in adult patients with Pompe disease

8:15

Troy C Lund

University of Minnesota

Minneapolis, MN, United States

Improvement in biomarkers after intrathecal iduronidase for children with MPS IH

8:30

Kelly King

University of Minnesota

Minneapolis, MN, United States

Attention and corpus callosum volumes in individuals with Hurler and Hurler-Scheie syndromes and controls

8:45

Cynthia J Tifft

National Human Genome Research Institute, NIH

Bethesda, MD, United States

Brain MRI in patients with GM1 gangliosidosis, type II: novel scoring system correlates with disease progression and severity

9:00

Jeanine Utz

University of Minnesota, Fairview

Minneapolis, MN, United States

Screening for CSF and serum biomarkers in infantile and juvenile gangliosidosis diseases

9:15

Jonathan W Mink

University of Rochester

Rochester, NY, United States

Movement disorders differ in different forms of neuronal ceroid lipofuscinosis

9:30

Jonathan P Dyke

Weill Cornell Medical College

New York, NY, United States

Differential degeneration of cortical thickness with disease progression in late infantile neuronal ceroid lipofuscinosis

9:45

 

 

Barry Byrne

University of Florida, School of Medicine

Gainesville, FL, United States

Preliminary clinical efficacy and safety of BMN 701, GILT-tagged recombinant human acid alpha glucosidase (rhGAA), in late onset Pompe disease: results of an extension study

10:00

 

 

Break & Exhibits

 

 

10:15

Robert J Desnick

Icahn School of Medicine at Mount Sinai

New York, NY, United States

Targeted sequencing of over 4,000 hypertrophic cardiomyopathy (HCM) patients for mutations causing HCM and Fabry disease: HCM mutations frequent in patients with GLA later-onset mutations, polymorphisms, and variants

10:30

Dominique P Germain

University of Versailles

Montigny, France

Tissular X chromosome inactivation studies as a decision making criteria for enzyme replacement therapy in females heterozygotes for Fabry disease

10:45

Arian Pano

Shire

Lexington, MA, United States

Safety and effect of open-label agalsidase alfa in treatment-naïve children with Fabry disease

11:00

Shawn Lipinski

LSD Unit, O and O Alpan LLC

Fairfax, VA, United States

The multinational experience on long-term enzyme replacement therapy in children with Fabry disease

11:15

Carrolee Barlow

Amicus Therapeutics

Cranbury, NJ, United States

Clinical results using a GLP-validated pharmacogenetic test identifies subjects responsive to migalastat HCl in the FACETS study

11:30

Lunch Break

 

 

 

 

Clinical Trials II     Co-Chairs: Jill Morris and Priya Kishnani

                       

1:00

John A Barranger

LSDCCN, Pittsburgh, PA, United States

Evaluation of glycosphingolipid clearance in patients with Fabry disease treated with agalsidase alfa who switched to agalsidase beta (the INFORM study)

 

1:15

Deborah Elstein

Gaucher Clinic, Shaare Zedek Medical Center and Hebrew University-Hadassah Medical School, Jerusalem, Israel

Safety and efficacy of long-term enzyme replacement therapy with velaglucerase alfa in patients with type I Gaucher disease transitioned from imiglucerase

1:30

Pilar Giraldo

Centro de Investigación Biomédica en Red de Enfermedades Raras and Hospital Universitario Miguel Servet

Zaragoza, Spain

Safety and efficacy of long-term Velaglucerase alfa therapy in treatment-naïve adults with type I Gaucher disease: results from phase III trials

1:45

Timothy M. Cox

University of Cambridge, Addenbrooke?s Hospital

Cambridge, United Kingdom

ENCORE: a randomized, controlled, open-label non-inferiority study comparing eliglustat to imiglucerase in Gaucher disease type I patients on enzyme replacement therapy who have reached therapeutic goals

2:00

Joel Charrow

Ann & Robert H. Lurie Children's Hospital of Chicago

Chicago, IL, United States

EDGE: a phase 3 study evaluating once versus twice daily dosing of eliglustat in patients with Gaucher disease type I: interim results from the lead-in period

2:15

Leorah Ross

Genzyme, a Sanofi company

Cambridge, MA, United States

Eliglustat safety profile based on a pooled analysis of data from four trials in Gaucher disease type I

2:30

Vassili Valayannopoulos

Hôpital Necker-Enfants Malades

Paris, France

Clinical effect of sebelipase alfa on survival and growth in infants with lysosomal acid lipase deficiency (Wolman disease)

2:45

Chester B Whitley

University of Minnesota

Minneapolis, MN, United States

Long term clinical effect and safety of sebelipase alfa in adults with lysosomal acid lipase deficiency

3:00

Break

 

 

 

3:15

Joseph Muenzer

University of North Carolina Chapel Hill

Chapel Hill, NC, United States

Investigational intrathecal (IT) enzyme replacement therapy for the severe form of Hunter syndrome (mucopolysaccharidosis II, MPS II)

3:30

Paul Harmatz

Children?s Hospital & Research Center Oakland

Oakland, CA, United States

Galsulfase for mucopolysaccharidosis type VI: analysis of clinical data since 2000

3:45

Simon Jones

Manchester Centre for Genomic Medicine St. Mary?s Hospital, CMFT, University of Manchester

Manchester, United Kingdom

An open-label, multicenter, ascending dose study of the tolerability and safety of recombinant human acid sphingomyelinase (rhASM) in patients with ASM deficiency (ASMD)

4:00

Joyce E Fox

Steven and Alexandra Cohen Children?s Medical Center

New York, NY, United States

Recombinant Human beta-glucuronidase enzyme replacement therapy for mucopolysaccharidosis type VII: report of the first patient treated

4:15

Marc C Patterson

Mayo Clinic

Rochester, MN, United States

Longitudinal data from the international registry for Niemann-Pick disease type C (NPC)

4:30

Chester B Whitley

University of Minnesota

Minneapolis, MN, United States

Concluding remarks

6:30

Reception and Banquet

 

 

 




Rare Disease Report is a media partner with the Lysosomal Disease Network

SUBMISSION OF MATERIALS TALLY FOR LDN PROGRESS REPORT
Study # P.I. Protocol Title ClinicalTrials.gov ClinicalTrials.gov Reference Number MyNCBI Publication Language Progress Report
6702 S. Michael Mauer Natural History and Structural Functional Relationships in Fabry Renal Disease X NCT01581424      
6703 Elsa G. Shapiro Longitudinal Studies of Brain Structure and Function in MPS Disorders X NCT01870375      
6704 Raphael Schiffmann The Natural History of Mucolipidosis Type IV X NCT01067742      
6705 Lynda Polgreen Longitudinal Study of Bone and Endocrine Disease in Children with MPS I, II, and VI: A Multicenter Study of the Lysosomal Disease Network X NCT01521429      
6706 Gregory Grabowski A Historical Chart Review and Longitudinal Follow-Up of Identified Patients with Wolman Disease or Cholesteryl Ester Storage Disease, Lysosomal Acid Lipase Deficiency X NCT01884220      
6707 Elsa G. Shapiro Characterizing the Neurobehavioral Phenotype(s) in MPS III X NCT01873911      
6708 William Wilcox Pulmonary Disease and Exercise Tolerance in Boys with Fabry Disease X NCT01304875      
6709 Priya Kishnani Determination of Cross-Reactive Immunological Material (CRIM) Status and Longitudinal Follow-Up of Individuals with Pompe Disease X NCT01665326      
6710 Michael Msall Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children          
6712 Sara Cathey Longitudinal Studies of the Glycoproteinoses X NCT01891422      
6713 Chester B. Whitley A Natural History Study of Hexosaminidase Deficiency X NCT00668187      
6714 A. Chen/P. Dickson A Study of Intrathecal Enzyme Replacement for Cognitive Decline in Mucopolysaccharidosis I X NCT00852358      
6715 Marc Patterson Longitudinal Study of Cognition with Niemann-Pick Disease, Type C X NCT01899950      
6716 Douglas Ballon Genotype-Phenotype Correlations of Late Infantile Neuronal Ceroid Lipofuscinosis X NCT01035424      
6717 Jonathan Mink Clinical and Neuropsychological Investigations in Batten Disease X NCT01873924      
6718 Chester B. Whitley Gene Therapy for Tay-Sachs Disease (Phase 1: Natural History Data Gather) X NCT01869270      
6720 R. Wang/A. Kelly Carotid Structure and Function in MPS Syndromes: A Multicenter Study of the Lysosomal Disease Network X NCT01586871      
6721 James Cloyd Intravenous N-acetylcysteine for the Treatment of Gaucher's Disease and Parkinson's Disease X NCT01427517      
The Lysosomal Diseases
with links to PubMed information
Hurler syndrome
Morquio syndrome
Maroteaux-Lamy syndrome
Sly syndrome
Mucopolysaccharidosis type IX
Multiple sulfatase deficiency
Batten disease
Tay-Sachs disease
Pompe disease
Batten disease
Batten disease, late infantile
Northern Epilepsy
Pycnodysostosis
Schindler disease
Sialuria, Salla disease

LDN / WORLD SymposiumOffice of Rare Diseases Research